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Transcript
2014
Bridging the World of Endocrinology
23-26 October, 2014
Regnum Carya Hotel, Antalya - Turkey
SELECTED CASES
w w w . e n d o b r i d g e . o r g
2014
SELECTED CASES
DATE
TIME
SESSION
HALL
SUBJECT
24.10
11.20-12.50
Pituitary
A
O-02 / CUSHING'S SYNDROME DURING PREGNANCY
24.10
11.20-12.50
Pituitary
A
O-03 / AN ACTH DEPENDENT CUSHING’S SYNDROME
WITH UNKNOWN ECTOPIC ORIGIN
24.10
11.20-12.50
Pituitary
A
O-04 / HYPOPHYSITIS IN A MALE PATIENT
24.10
11.20-12.50
Thyroid
B
O-09 / PROGRESSIVE SEVERE DYSPNEA AND
HYPOXIA DUE TO THYROID LYMPHOMA: STEROID
ADMINISTRATION MAY BE LIFE-SAVING
24.10
11.20-12.50
Obesity / Lipids
C
O-12 / GESTATIONAL DIABETES MELLITUS
ACCOMPANIED WITH SEVERE NON-FAMILIAL
HYPERTRIGLYCERIDEMIA, A CASE REPORT
24.10
11:20-12:50
Male
reproductive
endocrinology
D
O-13 / IDENTIFYING MALE HYPOGONADISM,
RECOGNIZING THE ASSOCIATION OF HYPOGONADISM
WITH COMORBIDITIES SUCH AS METABOLIC
SYNDROME, DIABETES AND OBESITY
24.10
14.00-15.30
Pituitary
A
O-06 / ROLE OF STEREOTACTIC RADIOSURGERY FOR
TREATMENT OF HYPOPHYSITIS
24.10
14.00-15.30
Pituitary
A
O-07 / RESTORATION OF FERTILITY IN A MAN WITH
MACROPROLACTINOMA AND POSTOPERATIVE
HYPOPITUITARISM
24.10
14.00-15.30
Pituitary
A
O-08 / SILENT CORTICOTROPH PITUITARY ADENOMA
PROGRESSING TO CUSHING DISEASE
24.10
14.00-15.30
Thyroid
B
O-10 / PAPILLARY MICROCARCINOMA IN A PATIENT
WITH MULTIPLE FINE NEEDLE THYROID ASPIRATIONS
RESULTING IN ATYPIA OF UNDETERMINED
SIGNIFICANCE
24.10
14.00-15.30
Thyroid
B
O-11 / A RARE CONDITION: UNILATERAL GRAVES’
DISEASE
24.10
14:00-15:30
Female
reproductive
endocrinology
D
O-14 / INFERTILITY DUE TO COMBINATION OF
ENDOCRINE, AUTOIMMUNE AND GENETIC CAUSES
24.10
14:00-15:30
Female
reproductive
endocrinology
D
O-15 / APPROACH TO CONGENITAL ADRENAL
HYPERPLASIA IN PREGNANCY
24.10
14:00-15:30
Female
reproductive
endocrinology
D
O-16 / TESTOSTERONE AND CORTISOL
SECRETING OVARIAN STEROID CELL TUMOR IN A
POSTMENOPAUSAL WOMAN: AN UNUSUAL CAUSE OF
HIRSUTISM
24.10
14:00-15:30
Female
reproductive
endocrinology
D
O-19 / A YOUNG WOMAN WITH DIABETES & PRIMARY
AMENORRHOEA
23-26 October, 2014
5
Regnum Carya Hotel, Antalya - Turkey
2014
DATE
TIME
SESSION
HALL
25.10
11.20-12.50
Diabetes
A
O-17 / DO GUIDELINES ALWAYS SHOW THE
DIRECTION?
25.10
11:20-12:50
Diabetes
A
O-18 / A GIRL WITH SEVERE INSULIN RESISTANCE
AND TYPE 2 DM DIAGNOSED AS ALSTROM SYNDROME
25.10
11:20-12:50
Adrenal
B
O-23 / A RARE CAUSE OF ADRENOCORTICOTROPIC
HORMONE INDEPENDENT CUSHING'S SYNDROME
25.10
11:20-12:50
Adrenal
B
O-24 / A RARE CASE:MALIGNANT PARAGANGLIOMA
25.10
11:20-12:50
Bone / Calcium
C
O-20 / A 43-YEAR OLD MAN WITH SEVERE
OSTEOPOROSIS
25.10
11.20-12.50
Bone/Calcium
C
O-25 / CASE STUDY OF POSTMENOPAUSAL WOMAN
25.10
11:20-12:50
Bone/Calcium
C
O-26 / A RARE CAUSE OF PRIMARY
HYPERPARATHYROIDISM: PARATHYROID CARCINOMA
25.10
11:20-12:50
Neuroendocrine
tumors
D
O-29 / ECTOPIC ACTH SYNDROME
25.10
14:00-15:30
Adrenal
B
O-21 / PRIMARY ADRENAL LYMPHOMA AS A RARE
CAUSE OF UNILATERAL ADRENAL MASS
25.10
14:00-15:30
Adrenal
B
O-22 / A RARE CAUSE OF HYPERTENSION,
ALDOSTERONE SECRETING ADRENOCORTICAL
NEOPLASIA ; A CASE REPORT
25.10
14.00-15.30
Bone/Calcium
C
O-27 / A VEILED FEMALE PATIENT WITH
OSTEOMALACIA DIAGNOSED AS CELIAC DISEASE
25.10
14.00-15.30
Bone/Calcium
C
O-28 / THE USE OF CINACALCET IN PRIMARY
HYPERPARATHYROIDISM: A PRACTICE REVIEW
25.10
14.00-15.30
Neuroendocrine
tumors
D
O-30 / AN INSULINOMA LOCALISED BY BOTH IMAGING
STUDIES AND SELECTIVE ARTERIAL CALCIUM
STIMULATION TEST
23-26 October, 2014
SUBJECT
6
Regnum Carya Hotel, Antalya - Turkey
2014
ORAL
PRESENTATIONS
23-26 October, 2014
7
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2014
O-02
Pituitary
CUSHING’S SYNDROME DURING PREGNANCY
NAFIYE HELVACI, MIYASE BAYRAKTAR
HACETTEPE UNIVERSITY SCHOOL OF MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND
METABOLISM,ANKARA, TURKEY
Introduction: Cushing’ syndrome (CS) is extremely rare in
pregnancy with fewer than 150 cases in the world literature
as individual cases and small case series. The clinical diagnosis of CS may be missed because of the overlapping
features of weight gain, hypertension, fatigue, hyperglycemia, and emotional changes that occur in pregnancy. The
biochemical diagnosis may also be difficult to establish because of the normal hypercortisolism of pregnancy. Here,
we report a case of CS during pregnancy due to a pituitary
adenoma presenting with severe hypertension and diabetes.
Clinical case: A 33-year-old pregnant woman (gravida 2
para 1) was admitted at 12 weeks of gestation with the complaints of headache, blurred vision, increased somnolence,
and asthenia. On admission, she was found to have a blood
pressure of 170/95 mmHg. Physical examination revealed
mild moon face, facial acne, hirsutism, wide and purple striae over the abdomen, and grade 3 pitting bipedal edema. Severe proximal muscle weakness was also noticed. Laboratory
investigations showed hyperglycemia, severe hypokalemia,
and proteinuria. Further investigations revealed high urinary
and serum cortisol levels with loss of the normal circadian
variation, accompanied by lack of supression of serum cortisol after both 2 and 8 mg of dexamethasone, supporting
23-26 October, 2014
the diagnosis of CS. She was started on anti-hypertensive
treatment with alpha-methyldopa. Her blood pressure remain elevated with maximum dose of alpha-methyldopa, so
nifedipine was subsequently added. Diabetes was managed
with basal-bolus insuline therapy. During follow-up, her
blood pressure remained uncontrolled, the degree of edema increased, her platelet level began to decrease, and her
conciousness level began to disturb. After the consultation
with obstetricians, termination of pregnancy was decided.
A therapeutic abortion was performed at the 14 weeks of
gestation. After abortion, pituitary MRI was obtained and revealed a 4-mm lesion on the right side of the pituitary. Inferior petrosal sinus sampling demonstrated a maximum central to peripheral ACTH gradient of 12.9, indicating CD. The
patient underwent transsphenoidal surgery. Histopathological examination confirmed a pituitary adenoma with positive immunohistochemical staining for ACTH. Postoperative
seum ACTH and cortisol levels were suggestive of complete
remission and hypertension, diabetes, and proteinuria resolved very soon after the operation. Conclusion: If undiagnosed and hence untreated, outcomes are poor for both
mother and the fetus in CS during pregnancy. Best outcome
is achieved by a multidisciplinary approach towards an individualised management.
8
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2014
O-03
Pituitary
AN ACTH DEPENDENT CUSHING’ SYNDROME WITH
UNKNOWN ECTOPIC ORIGIN
ISMAIL BEYPINAR1, DEMET SAHINER LAZZARI1, HUMEYRA BOZOGLAN2, RAMAZAN SARI2,
HASAN ALTUNBAS2, MUSTAFA KEMAL BALCI2
2
1
DEPARTMENT OF INTERNAL MEDICINE
DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
ACTH-dependent Cushing’ syndrome (CS) is characterized
by ACTH excess, arising either from tumors of the pituitary
or ectopic tumors like small cell lung carcinomas, medullary thyroid carcinomas, pheochromocytomas, as well as
thymic, pancreatic, and bronchial carcinoids which are often
indolent. High dose dexamethasone suppression and CRH
stimulation tests, magnetic resonance imaging (MRI) and inferior petrosal sinus sampling (IPSS) is the diagnostic tests
for distinguishing between pituitary and ectopic ACTH-secreting tumors. We are presenting here an ACTH-dependent
Cushing’ syndrome case with unknown ectopic origin.
than 1 cm and not strongly visualized. Bronchoscopic biopsy and mediastinoscopy weren €™t suitable for the lesions
and bronhco-alveolar lavage was not diagnostic. IPSS was
performed two times and it’ results supported ectopic ACTH
syndrome (EAS). FDG PET was negative for localization of
the ectopic ACTH secretion. Ketoconazole was given for
blocking of adrenal corticosteroid synthesis before operation. The patient underwent to bilateral adrenolectomy and
the pathology was bilateral adrenal cortex hyperplasia. The
prednisolone and fludrocortisone was started and the patient has followed up for the origin of EAS.
Clinical Case: A 18 year old women who applied with the
symptoms of hypertension, weight gain, strias on the abdomen. Basal ACTH and cortisol levels were 123 pg/ml and
36.19 mcg/dl, respectively. The diagnostic 2 mg and 8 mg
dexamethasone suppression are resulted with serum cortisol levels 15.7 and 25.5 mcg/dl, respectively. On MRI scan,
a hypo-intense 2.2x1.8 mm adenoma was found in the right
lobe of hypophysis. Abdominal tomography displayed bilateral adrenal gland hyperplasia. DOTA 68 GA scintigraphy
showed lymph nodes in the right hilus that were smaller
Conclusion: Localization of ectopic ACTH-secreting tumors
is often frustrating. Up to 50% of these neoplasms are not
initially detectable, despite complete radiological screening and venous ACTH sampling.Long-term follow-up is often necessary, and the primary lesion is generally discovered within 2 - 5 years of follow-up. Particular attention is
required to check the lung and thymus where epithelial or
carcinoid tumors are the main causes of ectopic ACTH production
23-26 October, 2014
9
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2014
O-04
Pituitary
HYPOPHYSITIS IN A MALE PATIENT
OZDEN OZDEMIR BASER1, EDA DEMIR ONAL1, NARIN NASIROGLU IMGA1, DILEK SENOZ BERKER1,
SERDAR GULER2
1
ANKARA NUMUNE EGITIM VE ARASTIRMA HASTANESI ENDOKRINOLOJI VE METABOLIZMA HASTALIKLARI UNITESI
2
CORUM HITIT UNIVERSITESI ENDOKRINOLOJI VE METABOLIZMA HASTALIKLARI UNITESI
Introduction: Several forms of inflammation of the pituitary
can be recognized histologically,including lymphocytic,granulomatous and xanthomatous. Lymphocytic hypophysitis is
the most common form.There is no specific biochemical or
serological marker.It occurs mostly in women especially in
the peripartum period and seen rarely in men.Here we report a male patient with hypophysitis.
82 mg/dl (70-110) Na:136 mmol/L (135-146), K:3,87 mmol/L
(3,5-5,1).His fT3:2,04 pg/ml (2.5-3,9) fT4: 0,05 ng/dl (0,611,2).TSH:0,46 µIU/ml (0,34-5,6),FSH:2,68 mIU/mL(1,2719,26),LH:0,1 mIU/mL(1,24-8,62),total testosteron
Case Report: A 28-year-old man admitted with complaints
of headache, naussea, fatigue and decreased libido for the
past 9 months.He had no past medical history of autoimmune disease. The first laboratory results were; glucose:
Resim 1
23-26 October, 2014
10
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2014
O-06
Pituitary
ROLE OF STEREOTACTIC RADIOSURGERY FOR
TREATMENT OF HYPOPHYSITIS
ESRA HATIPOGLU, PINAR KADIOGLU
DIVISION OF ENDOCRINOLOGY AND METABOLISM, DEPARTMENT OF INTERNAL MEDICINE, CERRAHPASA MEDICAL SCHOOL,
UNIVERSITY OF ISTANBUL, ISTANBUL, TURKEY
Background:There has been limited experience on the role
of radiosurgery for hypophysitis.
she is on 7.5 mg/day of prednisolon for about 10 months,
still she has not any recurrence.
Clinical Case: First case is a 42 years old female.4 years ago
she was admitted for her complaints of headache, menstrual irregularity and galactorrhea.Pituitary hormone levels at
first diagnosis are presented in Table 1.MRI revealed widening of the sella, with a 1 cm necrotic cystic lesion.She
underwent biopsy by transsphenoidal surgery.The histopathological work-up confirmed diagnosis of xanthomatous
hypophysitis.Whole body bone scintigraphy and FDG-PET
The second case is a 29 years old female.3 years ago she
was admitted for her complaints of headache, menstrual
irregularity, galactorrhea polydipsia and polyuria. Pituitary
hormone levels at first diagnosis are presented in Table
1.Water deprivation test confirmed central diabetes insipidus.MRI revealed paritial empty sella, pituitary height was 2
mm at midline and the infundibilum was thick with contrast
enhancement.The MRI findings were compatible with lymphocytic hypophysitis. Cabergoline and nasal desmopressin
acetate were initiated.During follow-up headaches did not
remit and menstrual irregularity did not improve.Also central hypothyroidism, growth hormone deficiency and hypocortisolism emerged. Hormone replacement therapies,50
mg/day AZT and 60 mg/day prednisolon were initiated.While
she was on 32 mg/day prednisolon she had bilateral avascular necrosis of the knees and hips. Steroid treatment was
changed to 15 mg/day of hydrocortisone, and Cyber-knife
stereotactic radiosurgery(CKR) was applied for the hypophysitis.2 months after CKR, findings on MRI improved slightly.14 months after CKR she has persistent hormone deficiencies and hyperprolactinemia however her headaches
improved.
did not reveal inflammation outside the hypophysis.Methylprednisolone (120 mg/day) was initiated and the dose was
decreased over 3 months.However she had recurrences of
headache, fever and nuchal rigidity at each attempt to decrease the dose.The recurrences were of hypophysitis and
improved after high dose steroid therapy.After a total of 4 recurrences azothiopurine(AZT) 50 mg/day was initiated however due to hepatotoxicity the dose could not be increased
further.Gamma-knife stereotactic radiosurgery(GKR) was
performed after 2 years of diagnosis.Sella MRI obtained 3
months after GKR showed the lesion decreased in size.Additionally headaches improved after GKR. About 8 months after GKR she had pituitary abscess which improved after antibiotherapy.AZT was discontinued and steroid was reduced
to low-replacement dose.After 2 years of GKN she has no
recurrence of hypophysitis. Her headache improved, and in
the latest sella MRI the lesion decreased further in size.
After GKR it was possible to decrease the steroid dose. Even
23-26 October, 2014
Conclusion:Stereotactic radiosurgery may be beneficial for
improvement of the symptoms in persistent hypophysitis
11
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2014
Resim 1
23-26 October, 2014
12
Regnum Carya Hotel, Antalya - Turkey
2014
O-07
Pituitary
RESTORATION OF FERTILITY IN A MAN WITH
MACROPROLACTINOMA AND POSTOPERATIVE
HYPOPITUITARISM
MELEK EDA ERTORER, OKAN BAKINER, EMRE BOZKIRLI, FILIZ E. HAYDARDEDEOGLU,
AYSENUR I. TORUN
BASKENT UNIVERSITY, FACULTY OF MEDICINE, DIVISION OF ENDOCRINOLOGY, ADANA
Introduction: Testosterone has been known to increase tumor size and elevate serum prolactin levels in men with resistant prolactinomas. Herein, we present a man with macroprolactinoma and postoperative hypopituitarism, whose
fertility was restored with high dose cabergoline (CAB), aromatase inhibitor and human chorionic gonadotropin (HCG).
Clinical Case: A 25-year-old man was admitted with the story
of a transcranial operation for pituitary macroadenoma performed at another center a year before. Headache and loss of
libido were his complaints before that operation, his baseline
serum prolactin was 470ng/ml (normal limits:4.6-21.4). Preoperative Magnetic Resonance Imaging (MRI) reported a pituitary mass of 45x26mm with compression of optic chiasm.
Immunhistochemical examination of operation specimens
demonstrated a prolactin (+) pituitary adenoma with Ki-67 3%.
He had postoperative hypopituitarism and was on levothyroxine 100mcg/day, transdermal testosterone 50mg/day, prednisolone 5mg/day and CAB 1.5mg/week on admission.In our
center, an adenoma fulfilling the pituitary fossa with erosion
of sphenoidal bone was reported at MRI. Serum prolactin was
measured following dilution and was 7205.2ng/ml. Diagnosis of
a macroprolactinoma with postoperative hypopituitarism was
23-26 October, 2014
performed. Considering about mass enlarging effect of testosterone on prolactinomas in men, transdermal testosterone
was withdrawn. Cabergoline dose was titrated up to 3.5mg/
week within a few weeks.At 24th week of high dose CAB, he
still suffered from sexual dysfunction. His prolactin was mildly
elevated, testosterone was undetectable. Pituitary MRI demonstrated significant tumor shrinkage. Anastrozole 1mg/day,
and transdermal testosterone 50mg/day were added. On the
first month of therapy, he reported significant improvement in
sexual functions, though his testosterone was low, but detectable, with stable prolactin.He again admitted for fertility, while
he was using those mentioned above. Pituitary MRI demonstrated insignificant tumor change. Transdermal testosterone
was stopped, HCG 5000IU twice/week was introduced. At third
month of therapy, his total testosterone was within high normal limits with elevated prolactin. Spermiogram demonstrated
motile sperms (of B-C-D groups) in his semen. Due to the risk
of tumor enlargement, sperm preservation was performed. His
former exogenous testosterone was reintroduced.
Conclusion: We believe this case is worth reporting as he
provides new therapeutic strategies for the treatment of resistant prolactinomas.
13
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2014
23-26 October, 2014
14
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2014
O-08
Pituitary
SILENT CORTICOTROPH PITUITARY ADENOMA
PROGRESSING TO CUSHING DISEASE
EKREM ALGUN1, KEREM ERSOY2, INAN ANAFOROGLU2
2
1
RTE UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF ENDOCRINOLOGY
TRABZON KANUNI EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
Introduction: Subclinical Cushing Syndrome has been firstly
defined in patients with adrenal incidentaloma who lack clinical
symptoms of hypercortisolism. Patients with incidental pituitary adenoma or adrenocortical carcinoma may also have this
syndrome. We present a case of subclinical Cushing syndrome
admitted with an incidental pituitary adenoma who developed
clinical Cushing disease during follow-up.
Clinical case: A 49-yr-old woman was referred for a pituitary
adenoma detected incidentally in cranial magnetic resonance
imaging (MRI) performed for dizziness by a neurologist. The
patient had no other complaint. She did not have diabetes mellitus or hypertension. At physical examination, blood pressure
was normal, her body mass index was 23 kg/m2. Facial plethora, moon-face or purple striae were not present. At laboratory examination, serum glucose, potassium and hormones of
anterior hypophysis were detected at reference ranges. Bone
mineral densitometry was normal. A 5x8 mm adenoma was
present at pituitary MRI. Endogenous autonomous hypercortisolemia was present with a morning ACTH level of 45 pg/ml revealing ACTH dependent Cushing. Pseudocushing was excluded by low dose dexamethasone supression test (DST) combined
with CRH. Inferior Petrosal Sinus Sampling test confirmed the
central origin (Table). Regarding lack of clinical symptoms of
Cushing syndrome, mutation analysis for a generalised glucocorticoid resistence syndrome was performed, it was negative.
Six months later, the patient did not have any complaints. Physical examination was normal. The size of the adenoma was the
same. After -one year from the last control visit, the patient admitted to the clinic with a complaint of progressive weight gain.
She had gained approximately 15 kg during the -six months before admission. At physical examination, she had facial plethora, moon-face, central obesity and supraclavicular fat pads.
There was no supression by DST, 24 hour urinary cortisol was
23-26 October, 2014
high (690 mcg/day). ACTH was 83.6 pg/ml. A progression in the
size of pituitary adenoma was detected (15x13 mm). Transsphenoidal pituitary surgery was suggested to the patient with
the diagnosis of clinical Cushing disease.
Conclusion: Among non-functional corticotroph adenomas,
approximately 6% are silent corticotroph adenomas causing
subclinical Cushing syndrome. Transforming risk of subclinical Cushing to clinical Cushing syndrome is a matter of debate.
Silent corticotroph adenomas have the potential of evolving to
Cushing’s disease, but it is not yet possible to predict which patient will have Cushing’s disease in future. The reason for lack
of clinical hypercortisolism has been attributed to abnormal
ACTH structure, diminished adrenal gland responsiveness or
levels of ACTH expression. Underlying genetic mechanisms or
predispositions triggered by radiation are thought to be likely causes. Silent corticotroph adenomas need long-term follow-up until better predictive markers are identified.
Resim 1
15
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2014
O-09
Thyroid
PROGRESSIVE SEVERE DYSPNEA AND HYPOXIA DUE
TO THYROID LYMPHOMA: STEROID ADMINISTRATION
MAY BE LIFE-SAVING
DERYA KOSEOGLU1, DILEK BERKER1, AYDIN ACAR2, SERDAR DENIZ3, SERDAR GULER4
ANKARA NUMUNE EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
ANKARA NUMUNE EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF OTORHINOLARYNGOLOGY HEAD AND NECK
SURGERY DEPARTMENT
3
ANKARA NUMUNE EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF INTERNAL MEDICINE
4
HITIT UNIVERSITY, FACULTY OF MEDICINE, ANKARA NUMUNE EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF
ENDOCRINOLOGY AND METABOLISM
1
2
Background: Thyroid nodules are common features with a
slow growth pattern even if they are malign. When sudden
rapid thyroid nodule growth occurs; hemorrhage into a benign or malign nodule, differentiating into anaplastic thyroid carcinoma, metastatic cancer and thyroid lymphoma
should be suspected. Primary thyroid lymphoma is an uncommon malignancy and its incidence was found to be 2.06
x 10-6 cases per year. Primary thyroid lymphoma is a very
uncommon malignancy, frequently presenting with rapidly
enlarging neck mass, hoarseness, dyspnea and dysphagia.
Dyspnea is seen in 55-65% of patient with primary thyroid
lymphoma, but presenting with progressive respiratory distress due to thyroid lymphoma is rare. Diagnosis is often established by fine needle aspiration (FNA) biopsy, open biopsy
and/or surgical intervention. FNA’ role in the diagnosis of
primary thyroid lymphoma is limited. Here we presented a
patient with severe progressive dyspnea and hypoxia, who
benefited from methylprednisolone atshort-term period and
was treated with surgery and chemotherapy afterwards.
Case presentation: A 70-year-old woman applied to the
emergency department with fatigue and severe progressive
dyspnea. She defined goitre for 6 months, which enlarged
rapidly for the last month. Progressive dyspnea and stridor
were present for 4 days, which had worsened in the last 12
hours. Physical examination revealed an enlarged thyroid
gland. The artery oxygen saturation was 59.2% and the ar-
23-26 October, 2014
terial PO2 was detected as 33.9 mmHg, despite an oxygen
supplement of 2 lt/m. Ultrasound of the neck showed a mass
of 7 cm in largest diameter in the left lobe of the thyroid. Hypothyroidism was detected on thyroid function tests. There
was tracheal deviation with no signs of pulmonary oedema
or pulmonary infiltrates on chest x ray. After admission her
dyspnea worsened and oxygen and bronchodilator treatment gave no benefit. Intravenous methylprednisolone was
administered, and the patient’ symptoms improved after
treatment. Meanwhile levothyroxine treatment was started
and FNA biopsy from the big mass was performed. The biopsy specimens were compatible with lymphocytic thyroiditis.
Computed tomography of the neck was performed, and a
thyroid mass with compression of the trachea was detected.
Total thyroidectomy was planned for acute airway obstruction and the need for precise diagnosis. While thyroidectomy, tracheostomy was also performed because the mass
was invading to the sublottic area. The mass was identified
as high grade diffuse large B-cell non-Hodgkin’ lymphoma.
After thyroidectomy chemotherapy was given and she has
been well till now.
Conclusion: Primary thyroid lymphoma may present with
severe dyspnea, and patients with rapidly enlarging neck
mass and dyspnea should be evaluated for primary thyroid
lymphoma. Prompt administration of steroid therapy may be
effective for improving respiratory symptoms.
16
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2014
O-10
Thyroid
PAPILLARY MICROCARCINOMA IN A PATIENT WITH
MULTIPLE FINE NEEDLE THYROID ASPIRATIONS
RESULTING IN ATYPIA OF UNDETERMINED
SIGNIFICANCE
BASAK SAYDAM1, OKAN BULENT YILDIZ2
2
1
HACETTEPE UNIVERSITY FACULTY OF MEDICINE / DEPARTMENT OF INTERNAL MEDICINE
HACETTEPE UNIVERSITY FACULTY OF MEDICINE / DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
Introduction: Fine needle aspiration (FNA); which is a safe,
accurate and cost-effective method, plays an important role
in the evaluation of patients with a thyroid nodule. FNA reduces unnecessary surgery for patients with benign nodules
and allows timely surgical intervention for patients with malignant nodules. However, the undetermined diagnostic category, which includes atypia of undetermined significance
(AUS) causes a heterogeneous group of diagnostic scenarios
and presents a major challenge for both pathologists and
clinicians. In the literature, malignancy risk for AUS ranges
from 6% to 48% for resected cases and 5% to 27% for all
cases. Here, we report a case of papillary microcarcinoma
who had recurrent FNA’s having different cytological results
in different times such as benign or consistent with AUS.
thyroid nodules smaller than 1 cm and she had a FNA result
consistent with Hashimoto thyroidits. In her seventh year of
follow-up; it is shown that one of the nodules in the left lobe
of the thyroid gland was enlarging (10x15x19mm), becoming
iso-hyperechogenic and having peripheral vascularisation.
The first FNA was reported as AUS. FNA was repeated 2
months later and cytology result was consistent with benign
follicular epithelioid cells and colloid. There were two other results of AUS in the following months with an interval
of 6 months and thyroid scintigraphy showed a normoactive
nodule in the left lobe. Because malignancy could not be
ruled out, total thyroidectomy was performed. The pathologic findings indicated papillary microcarcinoma (0.4 cm) and
chronic lymphocytic thyroiditis.
Clinical Case:A-47-year-old woman who had a diagnosis of
Hashimoto thyroiditis was admitted to the hospital for the
evaluation of her thyroid function. She was followed annualy
with thyroid ultrasonography, she had radiologically benign
Conclusion: The result of AUS in FNA causes a diagnostic
and therapeutic dilemma. Cytologic, clinical and radiologic
findings should be evaluated together when deciding to perform surgery or repeat FNA.
23-26 October, 2014
17
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2014
O-11
Thyroid
A RARE CONDITION: UNILATERAL GRAVES’ DISEASE
SEYID AHMET AY1, FERHAT DENIZ1, EBUZER KALENDER2, MUAMMER URHAN2, ARIF YONEM1
1
DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM, GULHANE MILITARY MEDICAL FACULTY HAYDARPASA TRAINING
HOSPITAL
2
DEPARTMENT OF NUCLEAR MEDICINE, GULHANE MILITARY MEDICAL FACULTY HAYDARPASA TRAINING HOSPITAL
Introduction: Graves €™ disease almost always presents as
a diffuse hyperfunctioning goiter involving both lobes of the
thyroid gland. There are only a few case reports of unilateral
Graves €™ disease not caused by the absence of the contralateral thyroid lobe in the literature. Herein, we describe
a case of unilateral Graves €™ disease involving the right
thyroid lobe of a bilobar gland.
Case Report: A 25-year-old man presented with symptoms
and signs of thyrotoxicosis; thyrotropin (TSH) was undetectable,
while free thyroxine (fT4) and free triiodothyronine (fT3) were increased. Thyroid scintigraphy with Tc99m showed that uptake
of the radioisotope was uniformly and unilaterally increased in
the right lobe, with no uptake in the left lobe of thyroid gland.
A color Doppler Ultrasonography of the thyroid gland was revealed a nonhomogeneous, enlarged and hypervascular right
lobe which was consistent with unilaterally Graves €™ disease.
Nevertheless, the left lobe of thyroid gland appeared homogeneous and hypovascular on ultrasound imaging. Finally, thyroid
autoantibodies were positive. Unilateral Graves €™ disease
was diagnosed, and treated with methimazole and propronalol.
In the sixth month, the complaints and laboratory (suppressed
TSH with T3 toxicosis) of the patient were not improved despite
adequate antithyroid therapy. He was referred for radioiodine
ablation therapy with 15 mCi of I-131 sodium iodide. After two
months of radioiodine ablation therapy, the patient had complete resolution of his hyperthyroid symptoms. However, his
fT4 and fT3 levels decreased significantly, while TSH levels
increased which was consistent with permanent hypothyroid
condition. Subsequently, the patient was taken levothyroxine
replacement therapy.
rare variant of Graves €™ disease. This hyperthyroid patient
has positive thyroid autoantibody, hypervascular and heterogeneously enlarged right thyroid lobe on ultrasonography
(compared to the hypovascularand homogeny left thyroid
lobe), and the uniformly distributed, increased Tc99m uptake
in the right thyroid lobe pointing to existence of unilateral
Graves €™ disease as the diagnosis. The pathophysiology of
unilateral Graves €™ disease has not been clearly elucidated, but clinicians should be aware that Graves €™ disease
can present with unilateral involvement of the thyroid gland.
1. Sakata S, Fuwa Y, Goto S, Fukui M, Yuasa H, Takuno H,
Sarui H, Matsui I, Ogawa T, Sasano N 1993 Two cases
of Graves €™disease with presentation of unilateral
diffuse uptake of ra-dioisotopes. J Endocrinol Invest
16:903 - 907.
2. Gratz S, Barth P, Arnold R, Behr TM 2004 Graves €™
disease with unilateral radioisotope uptake. Nuklearmedizin 43: N66 - 68.
3. Chen LC, Green JB. First reported case of unilateral
Graves’ disease in the left lobe of a bilobar thyroid gland.
Thyroid. 2011 ;21(6):683-6.
Conclusion: We report the unilateral Graves €™ disease
in the right lobe of a bilobar thyroid gland as an extremely
23-26 October, 2014
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Regnum Carya Hotel, Antalya - Turkey
2014
O-12
Lipids/Obesity
GESTATIONAL DIABETES MELLITUS
ACCOMPANIED WITH SEVERE NON-FAMILIAL
HYPERTRIGLYCERIDEMIA, A CASE REPORT
MAZHAR MUSLUM TUNA, FARUK KILINC, ZAFER PEKKOLAY, HIKMET SOYLU,
ALPASLAN KEMAL TUZCU
DICLE UNIVERCITY SCHOOL OF MEDICINE ENDOCRINOLOGY AND METABOLISM DEPARTMENT
Introduction: It is well known that plasma lipid levels increase during pregnancy due to increased estrogen, progesterone, and human placental lactogen. However, expected
elevations for triglyceride (TG) and total cholesterol levels
during a normal gestational period usually do not exceed
332 mg/dL and 337 mg/dL, respectively. Here, we present a
case report of 32 year old woman with gestational diabetes
and non-familial severe hypertriglyceridemia.
Case report: A 32 year old woman was admitted to our clinic at 27th week of her first pregnancy. She was diagnosed
as gestational diabetes after a 75 gr glucose loading test
and recommended of dietary restriction of glucose. She had
complaint of mild headache and fatigue. Neither abdominal pain, nor nause and vomiting was reported. No clinical
signs, suggestive of hyperlipidemia, were detected. She had
a sligtly increased level of triglyceride (240 mg/dl) and normal cholesterol levels before pregnancy and she had no relevant family history. Serum lipid profile revealed following
findings: TG: 15.600 mg/dl; total cholesterol: 459 mg/dl; HDL
cholesterol:43 mg/dl. Her amylase and lipase levels were
within normal limits. Abdominal ultrasound imaging was
unremarkable with absense of cholelithiasis and all antenatal obstetrical evaluation were normal. Fasting plasma glucose was 126 mg/dl, thyroid, liver and renal function tests
were normal. Intensive insulin therapy and low molecular
weight heparin (LMWH) were administered with medical
23-26 October, 2014
nutrition therapy (dietary restriction of carbonhidrate and
fat(20 gr per day)). After five days of treatment despite higher doses of insulin (80 IU/day), blood glucose levels were still
above the normal limit and triglyceride level was 12.300 mg/
dl. Metformin therapy was started to improve glucose sensitivity and lower triglyceride levels at 850 mg doses once a
day and titrated to three times a day. After three days with
metformin blood glucose was decreased within the target
range while TG level was remained higher. A therapeutic
plasmapheresis with human albumin infusion, targeting a
TG level below 1.000 mg/dl, for preventing acute pancreatitis
was performed. After one session of plasmapheresis which
was very painfull for the patient TG levels fell from 7.300 mg/
dl to 4460 mg/dl. The following day we suggested an additional apheresis session but she did not approved. She did
not tolerate omega -3 fatty acids. Her TG levels ranged from
750 mg/dl to 1100 mg/dl until delivery. She delivered at 38th
week of pregnancy via elective cesarean section a healthy
female baby with normal birth weight. Serum TG level decreased immediately to 380 mg/dl after delivery.
Discussion: Pregnancy had been reported to induce severe
hyperlipoproteinemia and these patients may carry risk of
developing hyperlipoproteinemia in their future life. Metformin therapy may be a good choice in management of
hypertriglyceridemia in patients with gestational diabetes
mellitus.
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2014
O-13
Male reproductive endocrinology
IDENTIFYING MALE HYPOGONADISM, RECOGNIZING
THE ASSOCIATION OF HYPOGONADISM WITH
COMORBIDITIES SUCH AS METABOLIC SYNDROME,
DIABETES AND OBESITY
SHOTA JANJGAVA, ELEN GIORGADZE, TAMAR ZEREKIDZE, MAKA KORINTELI, KETEVAN ASATIANI ,
NATIA CHKHEIDZE
NATIONAL INSTITUTE OF ENDOCRINOLOGY
Testosterone deficiency (TD) is an underdiagnosed and undertreated condition among Georgian men. Study of hypogonadism in males, revealed that 38.7% of men visiting a
primary care practice and aged 45 and older had positive
tests for hypogonadism, defined as a total testosterone (TT)
level <300 ng/dL.We reporta case of 48-year-old man, who
came to the clinicfor scheduled visit. Today, he complains
for fatigue, weight gain, and decreased libido, although he
denies erectile dysfunction. He states that his wife is concerned that he may be depressed, given his lack of interest
in sex. He takes glibenklamide/metformin for type 2 diabetes mellitus (T2DM), which was diagnosed 4 years ago.Body
mass index (BMI) was: 31.1 kg/m2, Bloodpressure (BP):
138/90 mmHg. He had HbA1c: 6.4%, serum TT level at 9:30
AMwas 290 ng/dL, which was confirmed by retest results.
23-26 October, 2014
Werecommended weight loss, Letrazolium and TRT. After 3
months, he returns for his scheduled follow-up evaluation.
He has lost 7 lb, reducing his BMI slightly to 30.1 kg/m2. His
blood pressure is 128/86 mm Hg, and his metabolic profile is
improved. His fasting plasma glucose has decreased to 101
mg/dL, and his HbA1C is 6.0%. His complete blood count and
liver function tests remain normal. he has experienced no
side effects from his TRT. His TT has increased andreached
target range (390 ng/dL). His mood has improved, and he
reports an increase in the frequency of intimacy with his
wife. Despite his controlled symptoms and improved overall
health profile, he is still overweight. He should be counseled
that if he continues to lose weight, he may further improve
his blood pressure and glycemic control as well as sexual
performance.
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2014
O-14
Female reproductive endocrinology
INFERTILITY DUE TO COMBINATION OF ENDOCRINE,
AUTOIMMUNE AND GENETIC CAUSES
LINA ZABULIENE1, ALGIRDAS UTKUS2, JURGITA URBONIENE3
CLINICS OF RHEUMATOLOGY, TRAUMATOLOGY-ORTHOPEDICS AND RECONSTRUCTIVE SURGERY, FACULTY OF MEDICINE,
VILNIUS UNIVERSITY; VILNIUS, LITHUANIA; ANTAKALNIO OUT-PATIENT CLINIC, VILNIUS, LITHUANIA
2
DEPARTMENT OF HUMAN AND MEDICAL GENETICS, FACULTY OF MEDICINE, VILNIUS UNIVERSITY; VILNIUS, LITHUANIA
3INFECTIOUS DISEASES AND TUBERCULOSIS HOSPITAL, VILNIUS UNIVERSITY HOSPITAL SANTARISKIU KLINIKOS, VILNIUS,
LITHUANIA
1
Introduction: Multiple gynaecological, endocrine, autoimmune and genetic conditions may lead to secondary infertility in women. There are evidences that antiphospholipid
syndrome, methylentetrahydrofolate reductase (MTHFR)
gene mutations, autoimmune thyroiditis, infertility and in vitro fertilization (IVF) failure might be associated.
Case report: A 34 years old Caucasian female was consulted by endocrinologist due to secondary infertility. Her pubertal development was normal, menstrual cycle was regular with ovulation every month. She has healthy 14 years old
daughter born at 7 months of gestation. Secondary infertility
was diagnosed in 2007. Since that time woman was investigated and treated in Lithuania, Latvia, Russia, Greece and
Turkey. She underwent 3 intrauterine insemination and 5 IVF
procedures. In July 2012 after the third IVF procedure she
conceived, but spontaneously aborted at 8th gestation week.
In 2010 during laparoscopy small patches of endometriosis
23-26 October, 2014
and ovarian cyst were destroyed. She underwent cervical
conisation due to cancer.
Since age of 4 she suffers from epilepsy and is taking gabapentin for several years. In 2011 subclinical hypothyroidism
and hyperprolactinaemia was diagnosed and treatment with
levothyroxin 50 mkg and bromocriptin 3.75 mg was started.
Her father had stroke and mother had two heart attacks and
deep veins thrombosis.
On examination secondary sexual features, weight, blood
pressure was normal. Data of the last pelvic ultrasound,
hysterosalpingogram and laparoscopy were normal. There
were no sellar changes on MRI.
Hormone profile: TSH 3.92 mIU/l (0.4 - 4); FT4 16.35 pmol/l
(12 - 23); FT3 5 pmol/l (3,5 - 6,5); ATPO 69,9 kIU/l (
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2014
O-15
Female reproductive endocrinology
APPROACH TO CONGENITAL ADRENAL
HYPERPLASIA IN PREGNANCY
Rovshan HASANOV, Mıyase BAYRAKTAR
DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND METABOLISM, HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE
Introduction: Congenital adrenal hyperplasia is an autosomal recessive disease, which is caused by defects in enzymes
involved in cortisol biosynthesis. In 95% of cases there is a
defect in the 21-hydroxylase enzymes. The gene responsible for the disease, CYP21A2, is located in the short arm of
chromosome 6 (6p21.3). There are more than 10 different
common mutations that cause the disease. Those mutations
typically cause three different types of 21-hydroxylase deficiencies: salt wasting, simple virilizing, and non-classical
congenital adrenal hyperplasia. Here we present a pregnant
patient with non-classical type congenital adrenal hyperplasia.
tal adrenal hyperplasia. Further analysis revealed two different
mutations in CYP21A2 gene: Q318S and P453S. Moreover, her
husband’ genetic analysis showed P453S mutation in CYP21A2
gene. Non-classical congenital adrenal hyperplasia was diagnosed and the patient was started on dexamethasone therapy
at 6th week of the pregnancy.
Gender analysis and genetic testing of the fetus has not concluded yet.
Clinical case: A 31 year-old woman presented to our clinic
with the intention of losing weight. She had hypothyroidism
and has been taking L-thyroxine replacement therapy. Past
medical history revealed two miscarriages, one at eleventh
and the other at sixth weeks of gestation. She had a seven
year-old son from consanguineous marriage.
Conclusion: The aim of prenatal treatment in congenital
adrenal hyperplasia is to suppress the fetal pituitary ACTH
secretion by exogenous glucocorticoids for reducing or preventing virilization of the external genitalia of the affected
female. For successful results, dexamethasone must be
started before ninth week of the pregnancy. Besides, if the
fetus is male or unaffected female, the treatment should be
discontinued, to avoid possible side effects of unnecessary
steroid use.
She had hirsutismus and irregular menstrual cycles. Ferriman Gallway score was 12 on physical examination.Laboratory
evaluation revealed high 17(OH) progesterone level (12.85ng/
ml), therefore, high dose ACTH stimulation test (250 mcg) was
performed (Table-1). The increased levels of 17(OH) progesterone in response to ACTH, supported the diagnosis of congeni-
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2014
O-16
Female reproductive endocrinology
TESTOSTERONE AND CORTISOL SECRETING OVARIAN
STEROID CELL TUMOR IN A POSTMENOPAUSAL
WOMAN: AN UNUSUAL CAUSE OF HIRSUTISM
INAN ANAFOROGLU1, ULKU METE URAL2, IBRAHIM SEHITOGLU3, OZGUR METE4, SLYVIA ASA4,
EKREM ALGUN5
1
TRABZON KANUNI EDUCATION AND RESEARCH HOSPITAL, DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM, TRABZON
2
RTE UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY,RIZE
3
RTE UNIVERSITY, FACULTY OF MEDICINE, DAPARTMENT OF PATHOLOGY, RIZE
4
UNIVERSITY OF TORONTO, DEPARTMENT OF LABORATORY MEDICINE AND PATHOBIOLOGY, TORONTO,
5
RTE UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM, RIZE
Introduction: Not otherwise specified (NOS) steroid cell tumors of the ovary are a group of sex-cord stromal tumors
that can produce steroids andaccount for less than 0.1% of
allovariantumors. They are usually associated with androgenic changes in 56-77% andCushingsyndrome in 6-10%. It
presents a real diagnostic challenge to both clinicians and
pathologists. We hereby report a 65-year-old postmenopausal woman presenting with Cushing syndrome and hyperandrogenemia due to a NOS steroid cell tumor of ovary.
Clinical case: The patient admitted with a complaint of
marked and progressive hirsutism that has been present for
2 years. She had a history of diabetes mellitus for 3 months,
hypertension and hperlipidemia for 10 years. Physical examination revealed signs of virilization with hirsutism (Ferriman-Gallwey scale, score 16), acnea and frontal balding.
She had a round and plethoric face, central adiposity and
supraclavicular fat pads. Laboratory work-up yielded hypercortisolemia, high levels of total testosterone, 149.5 ng/dL
(reference:14-76 ng/dL), free testosterone, 10.6 pg/ml (reference: 0.29-3.18), normal levels of DHEA-S, 160 µg/dL (reference: 35-430 µg/dL). Confirmation of Cushing syndrome
and exclusion of a possible pseudo-Cushing syndrome was
accomplished by further work-up. Her plasma adrenocorticotropic hormone (ACTH) level was relatively low (9 and <5
pg/mL) compatible with ACTH independent Cushing syndrome.Adrenal glands were completely normal, an ovarian
23-26 October, 2014
tumor was suspected. Neither computed tomography nor
magnetic resonance imaging scans showed any abnormality. PET/CT scan was also normal. A 20 mm, hyperechoic,
solid lesion in the right ovary was detected by transvaginal
ultrasonography. Ovarian neoplasm could not be excluded
during sonographic follow-up of the patient. The decision
for operation was made based on the persistence of small
sized ovarian mass and hysterectomy and bilateral salpingoophorectomy were performed. No intra or postoperative
complications were seen. Macroscopically, the size of mass
was found to be 1.9x1.7 cm. Upon microscopic examination,
the ovary contained a well delineated tumor composed of
clear and compact cells with scarce Reincke crystalloids.
The tumor cells exhibited nuclear reactivity for steroidogenic factor (SF-1) and strong cytoplasmic positivity for inhibin.
They were negative for ACTH, corticotropin releasing hormone (CRH) and Wilm’s tumor protein-1 (WT1). These histopathological features were consistent with a not otherwise
specified (NOS) steroid cell tumor of the ovary.
Conclusion: This case presents a rare co-existence of hyperandrogenemia and Cushing syndrome in a patient presenting with virilization. Postmenopausal virilization may
arise from adrenal or ovarian androgen-secreting tumors.
After exclusion of adrenal masses, oophorectomy may be
necessary to establish the definitive diagnosis for patients
with hirsutism and elevated testosterone levels.
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2014
O-17
Diabetes
DO GUIDELINES ALWAYS SHOW THE DIRECTION?
TAMAR ZEREKIDZE, ELEN GIORGADZE, SHOTA JANJGAVA
NATIONAL INSTITUTE OF ENDOCRINOLOGY
Introduction: For vast majority of Georgian people the cost
of healthcare is mostly paid by private insurance or services
out-of-pocket. The costs associated with this pattern of
payment vastly reduce the access to healthcare for people
with chronic diseases.
Clinical Case: This is the case study of one of the ordinary
Georgian patient.Mr. B is 64 years old man, who was
diagnosed type 2 diabetes 15 years ago. He has medical
history of myocardial infarction (MI) at the age 58 and
arterial hypertension II degree from the age 51. His last
visit to endocrinologist was 3 years ago. Since then he is
taking metformin 2000 mg/day, glimepiride 2 mg/day and
prescription from cardiologist: atorvastatin, ACE inhibitors
and cardioaspirin.He came to the clinic with several
complaints, such as: fatigue and excessive sweeting during
nighttime. As the patient has low income we could not
perform all necessary blood tests, but choose the ones with
greater informational value. The lab answers revealed that
patient’s HbA1c was 7.3%; he had elevated transaminase
levels (≈1.5 fold from ULN) and microalbumin and glucose
in the urinalysis. According to HbA1c levels glycaemia goal
was achieved for this patient, but we wondered why he had
excessive sweeting and glucose in urine if everything was
normal?! We asked for the glucose profile, which showed
23-26 October, 2014
glycemic variability during the whole day and night. Glycemic variability explained the false normal HbA1c level. The
next step was to choose the appropriate treatment that will
individually fit our patient. What does the modern international guidelines recommend for this particular situation?
Unfortunately nothing! This case is an example that every
diabetes is different from each other and individual treatment is important in achieving goal for each patient. We pay
attention on long duration of the disease, glucose variability,
elevated risk factors of cardio-vascular disease, impaired
liver function tests,mild diabetic nephropathy and low income. According to all this factors we choose low doses of
basal insulin (that is paid by government) and SU with lower
risks). After 2 weeks patient showed glucose profile without
any significant improvement. After 1 month we prescribed
DPP-4 inhibitors instead SU and the results were much
more better after 2 weeks. Importantly patient did not feel
any discomfort with this regimen and was happy with chosen
treatment in spite of high price of this new antihyperglycemic agents.
Conclusion: Guidelines not always show the right treatment
direction and individual based approach is very important for
each patient with type 2 diabetes.
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2014
O-18
Diabetes
A GIRL WITH SEVERE INSULIN RESISTANCE AND
TYPE 2 DM DIAGNOSED AS ALSTROM SYNDROME
ALPER CAGRI KARCI, ZEYNEP CETIN, MUSTAFA UNAL, SERDAR GULER
ANKARA NUMUNE EDUCATIONAL AND RESEARCH HOSPITAL ENDOCRINOLOGY AND METABOLISM DEPARTMENT
Alstrom syndrome is an autosomal recessive disease developing due to mutations in ALMS 1 gene. Alstrom syndrome is
a multiorgan disease characterized by retinal degeneration,
childhood obesity, insülin resistance, type 2 DM, hypertriglyceridemia, short stature, dilated cardiomyopathy, hepatic
and renal involvement. In this case report, a girl diagnosed
with type 2 DM at the age 7 and with Alstrom syndrome at
the age 25 is presented.
A 25 year old female patient referred to our clinic due to high
blood glucose. There was consanguine marriage between
parents and no history of diabetes was present in her five
brothers. Patient had nystagmus when she was 3 months
old ,her vision decreased constantly and she was totally blind
when she was 15 years old. DM was diagnosed when she was
7 years old and insülin treatment was initiated. She had
oligomenorrhea since menarche. In physical examination
her height 140 cm, weight 57 kg and waist circumference
91 cm measured and body mass index was calculated as 29
kg/m2. Fundus examination revealed retinitis pigmentosa.
Ferriman Galwey score was 8. Acanthosis nigricans, polydactly and syndactly were not seen. No pathologic finding
was observed in systemic examination. In laboratuary analysis blood glucose was 184 mg/dl, HbA1c: % 9, C-peptid level
7,09 ng/ml (0,9-7,1), creatinin 0,9 mg/dl (0,6-1,3) ,24 hour
urine protein excretion was 1400 mg/day. Serum triglyceride
level was 575 mg/dl ,HDL-K 29 mg/dl, LDL-K 104 mg/dl, AST
23-26 October, 2014
96 U/L (5-34), ALT 166 U/L (0-55) and GGT 176 U/L (9-36).
Albumin, bilrubin and INR level were normal, viral hepatitis
markers, ANA, Anti LKM and ASMA were negative. Abdomina USG revealed hepatomegaly and grade 3 steatosis. Total
testosteron and DHEA-S was 114 ng/dl (10-57) and 555 ng/
dl (95-511) respectively. TSH and IGF-1 values were normal.
Audimetric analysis showed mild type bilateral sensorineural hearing loss. Echocardiography was normal. At admission she was using insülin 160 U/day. Low fat and low calory diet was initiated. Ramipril 2,5 mg and metformin 500 mg/
day was started. Metformin dose was gradually increased to
2000 mg/day. At follow up visits blood glucose measurment
was over 200 mg/dl and sitagliptin 100 mg/day was added to
treatment. By this treatment blood glucose levels was improved and daily insülin need was decreased.
The diagnosis of Alstrom syndrome could be difficult as the
disease is rare, and some symptoms arise in infancy while
the others appear with the growth of the child and in adulthood. Marshall et al. determined major criteria according to
age groups in order to help diagnosis of Alstrom syndrome
(1). In the patient presented in this case report 1 major (nystagmus,blindness) and 5 minor criteria (obesity,type 2 DM,
hearing loss,hepatic disorder,short stature and hyperandrogenism) were present suggesting the diagnosis of Alstrom
syndrome. We didn €™t perform ALSM 1 mutation analysis.
In differential diagnosis due to lack of mental retardation.
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2014
O-19
Female Reproductive Endocrinology
A YOUNG WOMAN WITH DIABETES & PRIMARY
AMENORRHOEA
MUHAMMAD SHOAIB ZAIDI, ASIM HASSAN, EBTELAH ALMOQBEL
UNIVERSITY DIABETES CENTER,KING ABDULAZIZ UNIVERSITY HOSPITAL.
Introduction: Mayer–Rokitansky–Küster–Hauser (MRKH) syndromecombines congenital absence of the vagina with abnormal development of the uterus, ranging from a rudimentary
bicornuate uterus that may not open into the vaginal canal to a
virtually normal uterus. The incidence of the syndrome is one
in 4,500 female newborns. MRKH syndrome patients have a
correctly timed pubarche and thelarche with a normal female
karyotype (46, XX). MRKH occurs as a purely genital malformation (type 1), but may also occur with associated malformations
(type 2 and MURCS association; Müllerian,, Renal, Cervicothoracic Somite abnormalities).A failure of fusion of Müllerian
duct derivatives during gestational weeks 4–12 results in malformation of the vagina and uterus.
Case Presentation: We describe a case of 19 years old Saudi
woman with Type 1 diabetes for 6 years and primary hypothyroidism, having presented to the Endocrinology Clinic in
July 2013 with primary amenorrhoea, associated with cyclical abdominal pain for 4 years. Her secondary sexual characteristics had appeared at the age of 14 years. There was
no history of galactorrhea, hirsutism, visual disturbance or
anosmia. The patient was born pre-term at 8 months of gestation and had mild cerebral palsy. The family history was
unremarkable. Her younger sister, aged 17 years had normal menstrual cycles. On examination the patient’s BMI was
18.41 kg/m² and she was hemodynamically stable. There
were no dysmorphic features. The neurologic examination
revealed a limping gait and atrophy of right hand and right
lower-limb muscles. No syndactyly or scoliosis was observed. The rest of the systemic examination was unyielding.
The patient had normal secondary sexual characteristics
(Tanner 4). She was seen by the gynecologist who reported a
blind vagina. Subsequently, a progesterone challenge failed
23-26 October, 2014
to induce withdrawal bleeding.
Investigations revealed a normal CBC along with normal renal, hepatic, thyroid & bone profiles. Random blood glucose
was 163 mg/dl and HbA1c was 9.7 %. Serum Estradiol, FSH,
LH, Testosterone and DHEA levels were within normal limits. Urinalysis was normal. Karyotyping showed normal 46
XX female karyotype.
Radiology studies showed a normal chest film & no abnormality was detected in the skeletal survey. Echocardiogram
was unremarkable. MRI of abdomen & pelvis (Fig 1) revealed
an atretic uterine cervix without visualization of the vagina.
Otherwise, the uterine anatomy, ovaries & kidneys were reported as normal.
The patient was on Glargine & Aspart insulin and 50µg of
Thyroxine daily, besides 3 monthly depot Medroxy-progesterone acetate(150 mg) injection for the control of her cyclical abdominal pain.
Our patient was finally diagnosed to have the rarest form
of Mayer-Rokitansky-Kuster-Hauser syndrome (V5b, C0,
U0, A0, M0) ,as she had isolated vaginal atresia with normal
uterus. She was referred to a higher center for possible vaginoplasty .
Conclusion: In MRKH syndrome there is an uncommon occurrence in malformations of the distal genital system ,while
the spectrum of abnormalities occur more commonly in the
proximal part, with adnexal and extragenital malformations.
Our patient is unique in the sense, that she had the rarest
type of MRKH syndrome with vaginal atresia and normally
functioning uterus along with Type 1 diabetes and hypothyroidism.
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2014
O-20
Bone/Calcium
A 43-YEAR OLD MAN WITH SEVERE OSTEOPOROSIS
SELIN KUCUKYURT KAYA1, BULENT OKAN YILDIZ2
2
1
INTERNALMEDICINEDEPARTMENT, HACETTEPE UNIVERSITY SCHOOL OF MEDICINE
DIVISION OF ENDOCRINOLOGY AND METABOLISM DEPARTMENT OF INTERNAL MEDICINE HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE
Introduction: Osteoporosis is the most common metabolic
bone disorder characterized by a loss of bone osteoid that
reduces bone integrity, resulting in an increased risk of fractures. Osteoporosis is usually asymptomatic until fractures
occur. The World Health Organization (WHO) has established
diagnostic criteria for osteoporosis based on bone densitometry. Multiple risk factors including many chronic diseases
and medications have been shown to be independently associated with low bone mass causing secondary osteoporosis.
Case report: A 43-year-old man was referred to our clinic
after plain radiography for a solitary pulmonary nodule revealed compression fractures of T7 and L1 which were asymptomatic. The patient had no history of trauma, clinical
fractures or chronic disease. He denied taking any medications. He had pruritus that relieved by antihistaminics for 2
months. He had smoking history of 30 pack-years Physical
examination revealed dermographism.
23-26 October, 2014
A dual-energy x-ray absorptiometry (DEXA) showed a
T-score of −4.7 in the spine and of −1.5 in the femoral neck
areas, respectively. Because of the unusually low bone mineral density, further work-up was performed revealing normal results for blood cell count, calcium, phosphorus, and
25-hydroxyvitamin D levels, and kidney and liver functions,
thyroid function tests, testosterone, 24 hour urine free cortisol and 1 mg overnight dexamethasone suppression test.
Serum tryptase was 23.1 μg/L (reference range, <11.4). A
bone marrow biopsy was performed because of suspicion
of the presence of mastocytosis. Bone marrow biopsy confirmed the diagnosis of mastocytosis.
Conclusion: Mastocytosis is a rare disease that required
perseverance in the diagnostic evaluation of this patient.
Once osteoporosis is identified with a suspicion of secondary
cause, a through history, physical examination and a comprehensive diagnostic work-up must be performed to determine the underlying disorder.
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2014
O-21
Adrenal
PRIMARY ADRENAL LYMPHOMA AS A RARE CAUSE
OF UNILATERAL ADRENAL MASS
NURDAN GUL1, AYSE KUBAT UZUM1, FERIHAN ARAL1, SEVGI KALAYOGLU-BESISIK2,
FARUK ALAGOL1, REFIK TANAKOL1
1
ISTANBUL UNIVERSITY, ISTANBUL FACULTY OF MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY
AND METABOLISM
2
ISTANBUL UNIVERSITY, ISTANBUL FACULTY OF MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF HEMATOLOGY
Secondary adrenal involvement during the course of
non-Hodgkin’ lymphoma is rarely seen. Primary adrenal
lymphoma is even rarer, and bilateral adrenal involvement
is seen in about 70% of the patients. Unilateral primary adrenal lymphoma is a very rare entity and although chemotherapy is the treatment of choice, patients presenting with
unilateral disease can undergo unnecessary surgery with a
presumptive diagnosis of adrenocortical cancer.
We herein present a 69-year-old man who was referred to
our endocrinology clinic for evaluation of 8-cm right adrenal
mass. The patient began to experience fatigue, weight loss,
right back pain, and cough 6 months before his admission
and computerized tomography of the thorax demonstrated
a 3.5 cm non-adenomatous right adrenal mass lesion. Endocrinological evaluation revealed that the tumor was nonfunctioning and he was suggested unilateral adrenalectomy,
but didn €™t accept to be operated. His complaints worsened for the last two months and a repeat computerized tomography of the thorax demonstrated an 8 cm right adrenal
mass lesion. Abdominal MRI revealed non-adenomatous
right adrenal tumor and a positron-emission-tomography
scan was performed only showing significant uptake in the
right adrenal gland.
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On admission his physical examination revealed hepatosplenomegaly. Laboratory examination showed that the patient was anemic and had severe hypercalcemia, elevated
lactate dehydrogenase, creatinine, uric acid, C-reactive protein levels, and high erythrocytesedimentation rate. Needle
biopsy was performed with a presumptive diagnosis of primary adrenal lymphoma and showed CD5, CD20 and CD23
positive diffuse large B-cell lymphoma. The proliferation
index Ki-67 was 95%. He received 6 course of R-CHOP chemotherapy which resulted in reduction of the tumor size, but
remission could not be achieved. He is currently waiting for
radiotherapy.
Radiological findings suggesting malignant adrenal tumor,
patient history, constitutional symptoms, and laboratory
findings like hypercalcemia, high sedimentation rate and
elevated lactate dehydrogenase levels should alarm physicians that the tumor may not be an adrenocortical cancer
and although unilateral primary adrenal lymphoma is very
rare, further investigations should be made before referring
the patient for adrenalectomy.
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2014
O-22
Adrenal
A RARE CAUSE OF HYPERTENSION, ALDOSTERONE
SECRETING ADRENOCORTICAL NEOPLASIA; A CASE
REPORT
HAKAN BABAOGLU1, ALPER GURLEK2, MERVE TOMBUL1
INTERNAL MEDICINE DEPARTMENT, HACETTEPE UNIVERSITY SCHOOL OF MEDICINE
DIVISION OF ENDOCRINOLOGY AND METABOLISM DEPARTMENT OF INTERNAL MEDICINE HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE
1
2
Introduction: Primary hyperaldosteronism (PHA) could be
the most common identitable and potentially curable form of
secondary HTA. The hyperfunctioning aldosterone-secreting
adrenocortical tissue is either an adenoma, hyperplasia,
or carcinoma. We report a adrenocortical neoplasia case,
which presented with HTA.
Case Presentation: In April 2014, a 31-year old man, admitted to Emergency Department (ED)with loss of vision in
the right eye. He didn’t have any past medical history and he
wasn’t taking any medication prior to his initial presentation.
He had no significant family history.
Acute occlusion of right retinal vein,hypertensive retinopathy
and high blood pressure (BP: 170/100 mmHg ) were detected. Other phyical examination findings were unremarkable.
His initial laboratuary results were Na: 140 mg/dl K:3.54
mg/dl Cr: 0,8 mg/dlGFR>100 ml/min/1,73m2.
Mean of ambulatory blood pressure monitoring was found
155/96 mmHg. His renal CT anjiography was normal. Adrenal CT revealed a 1,6 cm x 1,2cm, 0 HU dansity nodular lesion at left adrenal corpus with radiological characteristics
of benign adenoma,while right adrenal gland was normal.
His cardiovascular evaluation was normal (ECG, Echocardiography). serumaldosterone level was elevated (506.55 pg/
ml, normal:35-300 pg/mL ), while renin was low (0.87 pg/
ml normal: 2.71-16.51 pg/mL). Other hormonal evaluation
including TSH, 24-hour urinary free cortisol excretion, low
dose dexamethasone supression test, DHEAS, urine and
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serum catecholamine levels were normal.
We decided to by-pass adrenal venous sampling (AVS) because of young patient age and well detected adenoma in CT
scan. Surgical resection of the adrenal mass was performed
at August 2014. Pathology revealed a 2,1x1,1x0,9 cm adrenocortical neoplasia with invasion to periadrenal fat tissue
and adrenal gland capsule. Ki67 index was %2, there was no
large vessel involvement or atypical mitosis . After surgery
patient’s blood pressure became normal.
Discussion: A recent study suggested a clinical prediction
score to diagnose unilateral PHA. This prediction score
contains; 3 points for typical Conn’s adenoma on imaging , 2 points for hypokalemia <3,5 mmol/lt , 2 points if
eGFR (MDRD) >100 ml/min/1.73m2, 1 point if 80-100 ml/
min/1.73m2 and 0 point if 2 . According to this study, a score
of at least 5, predicts a lateralized AVS with a specificity of
%100 (95% CI,91-100) and a sensivity of 53% (95% CI, 38-68).
Another study supports the prediction score in only young
population (age <40).
By using this score, AVS could be omitted in patients younger than age 40 if a unilateral adrenal adenoma on CT scan is
detected and there is coexisting hypokalemia (K<3,5 mg/dl)
or GFR>100 ml/min/1,73m2.
In our case, we used this prediction score and surgical procedure was made without AVS. And the pathology revealed
adrenocortical neoplasia .
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O-23
Adrenal
A RARE CAUSE OF ADRENOCORTICOTROPIC
HORMONE INDEPENDENT CUSHING’S SYNDROME
Seda Oguz, Miyase Bayraktar, Bulent Okan Yıldız
DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND METABOLISM, HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE, ANKARA, TURKEY
Background : Primary bilateral adrenal hyperplasias are
rare reasons of primary adrenal Cushing’s syndrome (CS).
Here we present a case with isolated primary pigmented
nodular adrenocortical disease (PPNAD).
Clinical case : 26 year-old woman was admitted to our outpatient clinic at 2005, for having irregular menstrual periods,
severe headache,increased facial hair and difficulty in walking.
When she was examined for muscle weekness a year ago,
twelfth thoracal vertebrae compression fracture was detected by magnetic resonance imaging (MRI). Electromyogram
findings were normal. Bone mineral densitometry (BMD) revealed a total lomber vertebrae T score of -4.28 and Z score
of -3.86 whereas femoral neck T and Z scores were -4.48 and
-4.45, respectively. She was given NSAIDs and calcitonin ;
which did not improve her symptoms.
On physical examination, she had moon face, hirsutism, central obesity with a BMI of 24.75 kg/m2, thin extremities, and
muscle weekness that she could only walk with assistance.
Violaceous striae were observed over upper thighs and upper arms. Her blood pressure (BP) was 150/100 mmHg.
Serum glucose, kidney and liver function tests, and serum
electrolytes were normal. 24 hour urinary free cortisol (UFC)
was 135.40 mcg (21-85) and serum cortisol level did not suppress with overnight low dose dexamethasone supression
test (20.5 mcg/dl). Basal morning plasma ACTH and cortisol
levels were <5 pg/ml and 17.5 mcg/dl, respectively. Midnight
plasma cortisol was 19.5 mcg/dl. After overnight high dose
dexamethasone, serum cortisol level was 22.4 mcg/dl.
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Computed tomography (CT) detected normal adrenal glands.
Adrenal venous sampling localised left adrenal gland as the
source of hypercortisolism.
The patient underwent left adnelectomy. Histopathologic assessment confirmed micronodular hyperplasia of the adrenal gland, with internodular cortical atrophy and brown-pigmented cells (Picture 1).
Patient needed steroid replacement therapy for the following year. She also gave birth to her first child in 2009. She
had no symptoms or signs of hypercortisolism ; until 2014.
In 2014, she was admitted for recurrency of symptoms . BP
was 120/80 mmHg, mild increase in abdominal fat and mild
hirsutism was detected but no striae were observed.
24 hour UFC was 30.83 mcg and 33.29 mcg in two subsequent
measurements. Serum cortisol level was not supressed with
overnight low dose dexamethasone (6.68 mcg/dl). Morning
serum ACTH and cortisol were 9.47 mcg/dl and 18.9 pg/ml,
respectively. After overnight high dose dexamethasone, serum cortisol level was 11.95 mcg/dl. Right adrenal gland
was normal in CT. She was osteopenic.
No other signs of Carney complex were found. Relapsed CS
is diagnosed and right adrenelectomy is planned.
Conclusion : We report a case of isolated PPNAD, which
could not be detected by adrenal imaging, and presented as
unilateral adrenal cortisol hypersecretion and cured with
unilateral adrenelectomy; but relapsed after 7 years.
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O-24
Adrenal
A RARE CASE: MALIGNANT PARAGANGLIOMA
ZEYNEP CETIN, MUSTAFA UNAL, DILEK BERKER, SERDAR GULER
ANKARA NUMUNE RESEARCH AND TRAINING HOSPITAL,DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
Abstract: Malignant paraganglioma is a rare type of catecholamine-secreting tumors.Here,we report a case of paraganglioma with lymph node metastases.The tumor was in
the abdomen,large(>5 cm)and after surgery we detected lymph node metastases.She is going to be treated with
131I-MIBG. We emphasize that a careful follow-up after surgery of a paraganglioma is important for an adequate diagnostic and therapeutic approach.
Introduction: Paragangliomas are tumors arising from
catecholamine-producing chromaffin cells of extraadrenal
tissues.They are 15-20% of all catecholamine-producing tumors. They are rare causes of hypertension.These tumors
have cardiovasculer risks,enlarge with time and may cause
mass-effect symptoms,some has malignant potential.Malignancy prevalence varies between 10 and 17%.We present
below a paraganglioma case with lymph node metastases.
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Case Report: 57 year old female patient admitted to a hospital with abdominal pain,weight loss,flushing and uncontrolled hypertension.Physical exam was normal,in the laboratory tests,she had anemia and primary hypothyroidism.A
mass near pancreas was detected in USG.Abdominal CT
was performed and it revealed a mass in the inferior pancreatic tail;measuring 75x55x50 mm.The mass was adjacent with abdominal tissues and its borders were deleted
(invasion?).In PET-CT,the mass had high pathological activity(SUVmax:19.8) and its border with adjacent tissues could
not been seen(invasion?).Her chromogranin A level was 655
ng/ml(the upper limit:5cm)or have an extraadrenal location have a high risk for malignancy.The common sites of
metastases are bones,lungs,liver,lymph nodes.Total tumor
excision is palliative.Radiotherapy may be useful for bone
metastases. 131I-MIBG therapy can be used if tumor has
MIBG uptake.Chemotherapy may be used if there is no radionuclide uptake.
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O-25
Bone/Calcium
CASE STUDY OF POSTMENOPAUSAL WOMAN
MARINA TSAGARELI, ELEN GIORGADZE, TEA SULIKASHVILI
NATIONAL INSTITUTE OF ENDOCRINOLOGY
Introduction: Underdiagnosisof vertebral fractures is a
worldwide problem.
Clinical Case:PostmenopausalGeorgian female, 65 years
old. Age at menopause 46 years.Asymptomatic,never used
HT,used calcium and vitamin D supplementsoccasionally.
She is a non-smoker and consumesless than 3 units of alcohol per week.Mother became slightly stooped at old age.
No other risk factors andchronic conditionshave been identified.Her activity levels are low to moderate.Medical history:She fractured forearm at age of 57 following the fall walking down the street .DXA findings: L1-L4T-score -(-1.6),Hip
T-score- (-1.9).Laboratory tests are all normal. As she had
low bone mass and fragility fracture we consideredherosteoporotic and decided to treat her as such. In order to reveal
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the prevalence of vertebral fractures we decidedto perform
VFA. We chose VFAfor identifyingvertebralfractures as they
are not often recognised on routine X-ray.VFA showed fracture.
It is known that preexisting vertebral fractures predict future fractures independent of BMD. Presence of vertebral
fractures are a strong indication of aggressive therapyof osteoporosis. Treatment plan included discussing of lifestyle
modification and dietary habits.She was prescribedbisphosphonate, calcium1000mg and vitamin D 800IU per day.
Conclusion: Diagnosing osteoporosisby BMD alone misses
many patients with prevalent vertebral fractures.
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O-26
Bone/Calcium
A RARE CAUSE OF PRIMARY
HYPERPARATHYROIDISM: PARATHYROID
CARCINOMA
DEMET SAHINER LAZZARI1, RAMAZAN SARI2, CUMHUR ARICI3, ELIF INANC GURER4,
HASAN ALTUNBAS2, MUSTAFA KEMAL BALCI2
2
1
DEPARTMENT OF INTERNAL MEDICINE, AKDENIZ UNIVERSITY FACULTY OF MEDICINE
DIVISION OF ENDOCRINOLOGY AND METABOLISM,AKDENIZ UNIVERSITY FACULTY OF MEDICINE
3
DEPARTMENT OF GENERAL SURGERY, AKDENIZ UNIVERSITY FACULTY OF MEDICINE
4
DEPARMENT OF PATHOLOGY, AKDENIZ UNIVERSITY FACULTY OF MEDICINE
Parathyroid carcinoma is one of the rarest known malignancies. It accounts for approximately 1% of patients with
primary hyperparathyroidism. The majority (90%) of parathyroid cancer tumors are hormonally functional and hypersecrete parathyroid hormone (PTH).We are presenting here
a rare case of primary hyperparathyroidism with parathyroid
carcinoma after third time repeated surgery achieved normal Ca and PTH levels.Clinical Case: A 42 year-old woman presented with a history of hypercalcinemia without any
symptoms during pregnancy and she underwent a parathyroidectomy operation. Result of pathology report came back
as a suspicious parathyorid adenoma or carcinoma without
muscle or neurol invasion. After 1,5 years later her calcium level was found 12 mg/ dl and PTH 249,5 pg/ml and she
submitted to further investigation for new treatment options
to our hospital. Pathologly slides from first operation were
consultated with our hospital pathology department and
result was parathyroid carsinoma. Technetium-99m sestamibi scan was negative but cervical ultrasound showed
that the parathyroid mass on the inferior of right thyroid
gland, so the patient underwent a second surgery with right
lobe thyroidectomia and radical neck dissection. Post operative PTH level was 43 pg/ml but in a two weeks times
PTH was detected 123 pg/ml, because of that calcimimetic
drug (namely cinacalcet 30 mg per day) is given to the patient. During therapy PTH levels continued high (168 pg/
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ml), therefore Technetium-99m sestamibi scan along with
cervical ultrasound was performed again and this time left
inferior thyroid gland localization was found positive. Furthermore, PET-CT was perfomed and result came without
any metastasis. For all these, the patient underwent third
surgery with left lobe thyroidectomia and radical neck dissection. After surgery PTH levels dropped to 10.19 pg/ml and
cinacalcet was stopped. After that PTH and Ca levels of her
remained stable.Conclusion:Parathyroid carcinoma is an
extremely rare endocrine malignancy, which typically presents with the clinical sequelae of extremely elevated serum
calcium levels. The primary modality of treatment is surgical en-block resection of the tumor and any involved surrounding structures. Persistent or recurrent disease occurs
in more than 50% of patients with parathyroid carcinoma,
reoperation is rarely curative and eventual relapse is likely.
In inoperable cases, few palliative treatment options exist,
although treatment with calcimimetics can effectively control hypercalcemia in some patients.Parathyroid carcinoma
is typically associated with a prolonged clinical course, with
multiple recurrences. We are discussing here a rare case
of primary hyperparathyroidism with parathyroid carcinoma
afterthird time repaeted surgery achieved normal Ca and
PTH levels. Due to limited value of adjuvant therapies, the
recommended treatment for recurrences and metastases is
also surgical resection, when technically feasible.
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O-27
Bone/Calcium
A VEILED FEMALE PATIENT WITH OSTEOMALACIA
DIAGNOSED AS CELIAC DISEASE
AYSE SENDUR1, ALPER GURLEK2
2
1
DEPARTMENT OF INTERNAL MEDICINE, HACETTEPE UNIVERSITY SCHOOL OF MEDICINE, ANKARA, TURKEY
DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND METABOLISM, HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE, ANKARA, TURKEY
Introduction: Osteomalacia is a metabolic bone disorder,
characterized by decreased mineralization of newly formed
osteoid at sites of bone turnover (1).
Several different disorders cause osteomalacia. Severe vitamin D deficiency secondary to inadequate dietary intake,
lack of sun exposure, gastric bypass or malabsorption, isthe
most common cause of osteomalacia in adults (2,3).
Bone pain is a characteristic symptom of osteomalacia. The
biochemical features are increased serum alkaline phosphatase and PTH values, and low calcium, phosphorus, and
25(OH)D values in most cases (4).
Clinical Case: A 29-year-old female with no medical history
was admitted to the emergency department with the complaints of peri-oral numbness, paresthesias of the hands
and feet, muscle cramps and carpopedal spasm. Also she
had progressive myalgia for several months. On physical
examination diffuse tenderness on muscles and carpopedal
spasm were noted. Laboratory examination established
hypocalcemia (5,98 mg/dl, ionized Ca:0,8 mMol/L), hypophosphatemia (P:2,43 mg/dl), hypoalbuminemia (3,06 g/dl),
hypomagnesemia (0,79 mg/dl), elevated PTH levels (282,6
pg/ml), elevated ALP levels (181 U/L), low 25(OH)D levels (5
µg/L), and mild transaminase elevation ( ALT:49 U/L, AST:56
U/L). Intravenous calcium gluconate and magnesium were
given and her symptoms recovered. She was prescribed cal-
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citriol and calcium carbonate and referred to internal medicine outpatient clinic.
Lack of sun exposure due to being veiled was considered
in the etiology but mild transaminase elevation, hypoalbuminemia and previous history of periodic diarrhea led us to
investigate celiac disease. Tissue transglutaminase IgA and
anti endomysial antibody were both positive. Upper gastrointestinal endoscopy for duodenal biopsy and bone mineral
density have been scheduled.
Conclusion: Vitamin D deficiency due to lack of sun exposure is one of the major cause of osteomalacia but another
underlying cause like celiac disease has to be considered in
differential diagnosis.
References
1. S. Christodoulou, T. Goula, A. Ververidis, and G. Drosos. Vitamin D and Bone Disease.Biomed Res Int. 2013;
2013: 396541.
2. Evaluation, Treatment, and Prevention of Vitamin D Deficiency, Endocrine Society Practice Guidelines JCEM,
2011.
3. Holick MF 2007 Vitamin D Deficiency. N Engl J Med
357:266 - 281
4. Tom D. Thacher, MD and Bart L. Clarke, MD, Vitamin D
Insufficiency,Mayo Clin Proc. Jan 2011; 86(1): 50 - 60.
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O-28
Bone/Calcium
THE USE OF CINACALCET IN PRIMARY
HYPERPARATHYROIDISM: A PRACTICE REVIEW
WAIEL A. BASHARI, SONAL HALAI, A. M. MOHAMED, M. I. BUTT, S. O. OYIBO
PETERBOROUGH CITY HOSPITAL, UNITED KINGDOM
Introduction: Primary hyperparathyroidism is largely caused
by a single parathyroid adenoma for which surgery is the treatment of choice, particularly if there is an end organ damage or
if the serum calcium exceeds 2.8 mmol/L. However, surgery is
not an appropriate option for all patients and medical alternatives are required. Cinacalcet is a calcimimetic used to treat hypercalcaemia in patients unsuitable for surgery. We evaluated
out practice of Cinacalcet in this cohort.
Cinacalcet. A once daily dosing regime was found to be as
effective as a twice-daily regime. We can therefore conclude
that Cinacalcet is an effective alternative to surgery at a lower dose than recommended.
Methods: A retrospective review of all the patients diagnosed
with primary hyperparathyroidism treated with Cinacalcet between (2010 – 2013) was conducted. Serum calcium
(Ca) and parathyroid hormone (PTH) levels were assessed
prior to commencing Cinacalcet and periodically every 2-3
months up to a year after commencing. Cinacalcet was given
as 30mg tablets, either once daily or twice daily.
Results: A total of 16 patients were reviewed (mean age 77
years, range 60-94). Of the 16 patients, 14 were female (88%)
and 2 were male (12%). Patients were on either a daily (9) or a
twice-daily dose (7). Indications for giving Cinacalcet included
the following: patient refused surgery (56%), patient was unfit
for surgery (38%) or an adenoma was not identified (6%). Prior to initiating Cinacalcet the mean PTH was 13.96 u/L (range
6.2-43.1) and the mean Ca was 2.88 u/L (range 2.68-3.18). The
calcium levels reduced for all patients on Cinacalcet after a
year (mean Ca 2.51, range 2.24-2.98). The 12.5% of the group
who developed side-effects were using Cinacalcet twice daily
regime. There was no significant difference in the amount by
which the Ca level reduced between the once daily dose (mean
= 2.52) and the twice-daily dose (mean= 2.51), (p < 0.01).
Conclusions: Cinacalcet is very effective at reducing serum
calcium levels in patients with primary hyperparathyroidism. Normo-calcaemia was achieved in all patients using
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O-29
Neuroendocrine tumors
ECTOPIC ACTH SYNDROME
MAKA KORINTELI, ELEN GIORGADZE, NATIA CHKHEIDZE, SHOTA JANJGAVA
NATIONAL INSTITUTE OF ENDOCRINOLOGY
A very rare condition, called ectopic (outside location) ACTH
(adrenocorticotropic hormone) syndrome, accounts for less
than 1% of cases of hypercorticizm.
Clinical Case. Patient D, 16 years old boy, was admitted to
our clinic at 20/06/2012 with following concerns: face puffiness with matronism and rash, headache, elevated arterial
pressure up to 140-160/90-120 mmHg, bright crimson striae on the thighs, abdomen and arms, pain and heaviness in
lower limbs, periodic cough with scanty sputum, insomnia
and depression.
20/04/2012 - 30/04/12 patient was hospitalized in Sochi hospital with left ureter stone diagnosis. He was treated and
discharged with satisfactory condition.
On admission to our clinic Cortizol level was 08:00h- 235.8
ng/ml; 16:00h –354 ng/ml; 23:00h– 218.9 ng/ml; ACTH
(08:00h) >150;
ACTH (23:00)-78.6 pg/ml;Cortisol in urea- 949 Ug/24h;Arterial pressure - 135/90 mmHg.
ECG - rhythm correct, sinus bradycardia 53’. Electrical axis
of the heart was in normal position. No conduction interruption. No changes in the heart muscle. Left ventricular overload indications.
23-26 October, 2014
MRI of the brain with contrast showed no pathology. MRI of
Adrenal Gland was also without any pathology.
Chest CT showed that in the lower lobe of right lung was
visualized nodal formation 5 mm in size. In the right pleural cavity was small amount of fluid. Left lung was without
pathology. Heart were slightly enlarged, in pericardium was
small amount of fluid.
A number of clinical studies conducted in our hospital allowed us to confirm Ectopic ACTH Syndrome diagnosis.
Patient was citizen of Russian and for financial reasons his
family decided to take him in Russia for surgery treatment.
Clinical examinations were retested and diagnosis of Ectopic
ACTH Syndrome was changed by diagnosis - Central Hypercoticism. Nodular formation of right lung 5 mm in size was
considered as the fibrous tissue developed after pneumonia. It was made right adrenalectomy, but the range of ACTH
was also high and was considered necessary to do inferior
petrosal sinus sampling (ipss), which show normal range
of ACTH. So they approved our diagnosis and right lung lobectomy was performed. In postoperative period ACTH and
cortisol levels returned to normal range.
Today patient D is under our surveillance. At present patients hormonal range is still normal.
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2014
O-30
Neuroendocrine tumors
AN INSULINOMA LOCALISED BY BOTH IMAGING
STUDIES AND SELECTIVE ARTERIAL CALCIUM
STIMULATION TEST
MURAT TORGUTALP, MIYASE BAYRAKTAR2, ESRA FIRAT1
1
DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND METABOLISM, HACETTEPE UNIVERSITY SCHOOL OF
MEDICINE, ANKARA, TURKEY
2
HACETTEPE UNIVERSITY SCHOOL OF MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, DIVISION OF ENDOCRINOLOGY AND
METABOLISM, ANKARA, TURKEY
Introduction: Pancreatic endocrine tumors are rare lesions,
with a reported incidence of four cases per 1 million patient-year. Of these lesions, insulinomas are the most common. However, it is a diagnostic dilemma for the clinicians.
The classic diagnostic test for an insulinoma is the 72-hour
fasting test. Selective arterial calcium stimulation (SACS)
test is performed to distinguish a focal abnormality (insulinoma) from a diffuse process. We report a patient who was
diagnosed with insulinoma using Computerized Tomography (CT), SACS and consequently underwent surgery.
confirmed a 10 mm hypervascular lesion of the pancreatic
head, which was competible with neuroendocrine tumor.
Case Report: A 24 year old man applied to the emergency department because of lightheadedness, palpitations,
weakness, sweating and dizziness. A capillary glucose level
determined in the emergency department was 39 mg/dl. He
was given %30 dextrose IV, and his symptoms resolved. The
patient reported that he had similar symptoms intermittantly, which started 3 months ago.
calcium was injected to superior mesenteric artery; which confirmed a pancreatic head / neck lesion.
He did not have any past medical history and he was not taking any medication. There was no family history of hyperparathyroidism, peptıc ulcer disease or hypoglisemia.
The patient underwent celiac axis arteriography and SACS test
in which calcium gluconate was injected into the superior mesenteric, gastroduodenal, main hepatic, distal splenic and proximal splenic arteries and blood was collected from the hepatic
vein subsequently, for measurement of insulin levels. A positive
result is defined as doubling or tripling of the basal hepatic vein
insulin concentration at times 30, 60, 90 sec after arterial calcium injection (Table-2). There was a positive response when
Our patient underwent successful enucleation of the insulonoma. Resected tumor was 1.5 x 1.5 cm in size. There was
no evidence of invasion, abnormal lymph nodes or liver metastases. Pathological evaluation revealed a well differentiated insulinoma with amyloid deposition.
Discussion: We report an insulinoma case that SACS test
confirmed the localisation of the CT detected lesion.
The phyical examination was unremarkable. He was a well
developed man. His abdomen was soft and nontender, with
no palpable mass or organomegaly.
On outpatient evaluation, serum values after an overnignt fast
were; Glucose:62 mg/dl (normal range, 70-100 mg/dl), Insulin:3.43 microIU/ml (1.9-2.3), C-peptide:1.79 ng/ml (0.9-7.1).
He was hospitalised to perform 72-hour fasting test; serum
glucose, insulin and C-peptide concentrations during the test
are shown in table 1. Ultrasonography of the abdomen revealed
a hypoechoic lesion between pancreas and duodenum. CT scan
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POSTER
PRESENTATIONS
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P-01
Thyroid
TRANSIENT THYROTOXICOSIS AFTER
PARATHYROIDECTOMY: CASE REPORT
MURAT SAHIN, AYTEN OGUZ, DILEK TUZUN, KAMILE GUL
DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM, KAHRAMANMARAS SUTCU IMAM UNIVERSITY FACULTY OF MEDICINE,
KAHRAMANMARAS,TURKEY
Introduction: Parathyroidectomy is the curative treatment
of primary hyperparathyroidism and is recommended for all
patients with symptomatic patients and asymptomatic patients that meet criteria of current guidelines for parathyroidectomy. Postoperative complications of parathyroidectomy include recurrent laryngeal nerve injury that may cause
transient or permanent voice changes, hematoma, wound
infection, persistent and transient hypocalcaemia. Also
postoperative hyperthyroidism is a complication occurring
after parathyroidectomy in primary hyperparathyroidism
and is attributed to palpation thyroiditis. Palpation thyroiditis is supposed to result from traumatic injury or rupture of
isolated thyroid follicles caused by pressure on the gland.
We presented a transient thyrotoxicosis case occured after
parathyroid surgery.
Case: 29 year old woman was referred to our endocrinology outpatient clinic due to hypercalcaemia. Initial laboratory results were as follow; Calcium 10,67 mg/dl (8,4-10,2),
phosphorus 2,8 mg/dl (2,4-5,4), intact parathormone 271 pg/
ml (10-65), albumin 4,5 g/dl (3,5-5,5), vitamin D 18,58 ng/
ml (30-90), creatinine 0,5 mg/dl (0,2-1,3), TSH 3,38 uIU/ml
(0,4-4,2) freeT4 1,27 ng/dl (0,8-2,7). Parathyroid ultrasound
revealed a 5x9x20 mm parathyroid adenoma at inferior posterior aspect of the right thyroid lobe and thyroid gland was
normal. Bone densitometry showed osteopenia and nephrolitiasis was detected in renal ultrasonography. Surgery
23-26 October, 2014
was recommended to patient. Parathyroidectomy was performed to the patient by general surgeon. Pathologic result
was parathyroid adenoma. Post-operative intact parathormone and calcium level were 5.38 pg/ml and 7.4 mg/dl respectively. Calcium replacement was started. 3 days after
parathyroidectomy the patient suffered from palpitations
and laboratory results revealed thyrotoxicosis (TSH 0.06
uIU/ml (0,4-4,2), freeT4 3,93 ng/dl (0,8-2,7), freeT3 8,86 pg/
ml (1,8-5,2). Thyroid uptake and scintigraphy using 99mTc
pertechnetate was performed and uptake was low (<%0.1).
Propronalol was started for palpitation. 9 days after parathyroidectomy freeT4 and TSH levels were 1,53 ng/dl (0,8-2,7)
and 0,03 uIU/ml (0,4-4,2) respectively. Thyroid function tests
were completely improved 15 days after parathyroidectomy.
Discussion: Thyrotoxicosis after parathyroidectomy may
be seen due to manipulation of adjacent thyroid gland and
release of thyroid hormones. In our patient low radioiodine
uptake suggest that thyrotoxicosis was due to release of preformed thyroid hormones. A prospective study revealed that
thyrotoxicosis is a common complication of parathyroidectomy that affects %29 of patients and occur between 7-21 days
after parathyroidectomy. Moreover, thyroid function tests
may be performed in selected cases following parathyroid
surgery when excessive manipulation of the thyroid gland
happens intra­operatively and in patients presenting postoperatively with features suggestive of thyrotoxicosis.
43
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2014
P-02
Thyroid
MEDULLARY THYROID CANCER AS A PART OF
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A
YULIYA DOLINSKAYA
INSTITUTE OF INTERNAL MEDICINE, SIBERIAN BRANCH OF RUSSIAN ACADEMY OF MEDICAL SCIENCES
I consider the case showing that the multiple endocrine
neoplasia type 2A (MEN 2) is rare autosomal dominant syndrome. MEN 2A associates medullary thyroid cancer (MTC)
with pheochromocytoma in 20 - 50% of cases and with primary hyperparathyroidism (HPT) in 5 - 20% of cases.
Case under discussion: A 34-year-old woman visited an
endocrinologist after her mother was diagnosed as having
aggressive MTC. Her mother underwent the thyroidectomy
about 10 years ago when she was 50 years old.
Our woman had discomfort in the neck. She had no weight
loss, fever, or thyroid nodule. On physical examination of thyroid gland and abdomen were normal.
Ultrasound examination of the thyroid gland showed nodules
in left and right lobe (0,7Ñ…0,7Ñ…1,0cm, 0,5Ñ…0,5cm) and
lymphadenopathy. It was recommended her to implement the
ultrasound monitoring. After two years, the ultrasound showed
that the nodules increased (1,2Ñ…0,7Ñ…1,0cm, 0,7Ñ…0,5Ñ…
0,6cm) and more than five supraclavicular lymph nodes had
increased with sign of degeneration. Results of the fine-needle
aspiration biopsy of the thyroid showed the follicular thyroid
cancer with metastases in these lymph nodes. The patient had
normal serum calcium; increased levels of calcitonin, serum
metanephrine, and normetanephrine.
On CT scan of the abdomen, the tumor of adrenal gland was
found. However, the patient had not symptoms of pheochromocytoma.
Thereafter, our patient underwent a thyroidectomy. The
results of pathological tests revealed a medullary thyroid
carcinoma with multifocal growth pattern and capsule invasion. The amyloid test was positive. The lymph nodes were
23-26 October, 2014
replaced with the tumor.
Later, patient underwent an adrenalectomy. Results of the
pathological tests confirmed pheochromocytoma.
It should be noted that all the family members had signed
an informed consent providing the authors with an authorization to publish this information.
Discussion: MEN 2A makes up 70 - 80% of cases of MEN 2.
As genetic testing for RET mutations has become available,
it has become apparent that 70 - 95% of individuals with
MEN 2A develop MTC, 50% develop pheochromocytoma, and
15 - 30% develop HPT.
Generally, the MTC is the first manifestation of MEN 2A. Up
to 70% of such patients already have cervical lymph node
metastases. Pheochromocytomas usually present after the
MTC or concomitantly; however, they are the first symptom
in 13 - 27% of individuals with pheochromocytomas and
MEN 2A.
Our patient had two components of MEN 2A: the MTC and
pheochromocytoma, which have been diagnosed at the
same time.
Considering the high risk of metastasis, we recommend
testing gene RET all the family members of the patient. Ideally, testing should be completed preoperatively.
Conclusions: The article presents a rare case of MEN 2A
that was only diagnosed after family history MTC became
known. Therefore, we urge physicians to pay more attention
to the main signs of MEN 2A, since early diagnosis can prevent further complications of this fatal disease.
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2014
P-03
Thyroid
RADIOIODINE UPTAKE IN NON-LACTATING
MAMMARY GLANDS
UMUT ELBOGA1, MESUT OZKAYA2, HAKAN KORKMAZ2, AYTEN ERAYDIN2, Y. ZEKI CELEN1
1
GAZIANTEP UNIVERSITY ,DEPARTMENT OF NUCLEAR MEDICINE
2
GAZIANTEP UNIVERSITY, DEPARTMENT OF ENDOCRINOLOGY
Background: Radioiodine uptake is rarely observed in normal non-lactating breast tissue. Investigation of the in vivo
regulation of iodide uptake in breast tissue may be useful for
the induction of radioiodine uptake in breast cancer tissue
for diagnostic and therapeutic purposes.
Case Report: We report a case of post-menopausal women who underwent radioiodine therapy for papillary thyroid
carcinoma andbreast uptake of radioiodine on post-therapy
whole body scan (WBS) was observed. The scintigraphic and
associated clinical characteristics of radioiodine breast uptake in non breastfeeding thyroid cancer patient undergoing
routine radioiodine ablation treatment and whole-body radioiodine scanning was investigated. In this patient, elevated
serum prolactin levels (117 ng/mL) were documented at the
23-26 October, 2014
time when radioiodine uptake in the breast was observed.
The hyperprolactinemia was due to pituitary adenoma which
confirmed hypophysis MRI. Medical treatment with bromocriptine was given to this patient. When prolactin levels
were normalized (by use of dopamine receptor agonist drug
in this case), breast tissue uptake was no longer evident on
WBS. Six months after she continued that use of dopamine
receptor agonist drug , her serum prolactin level was normalized to 13.4 ng/mL and breast uptake of iodine was no
longer present in a follow-up whole body scan.
Conclusion:This case provide direct evidence that endogenous hyperprolactinemia can induce significant uptake of
radioiodine by breast tissue, even in non-lactating mammary gland.
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2014
P-04
Diabetes
SEVERE HYPOGLYCEMIA AS A MANIFESTATION OF
DIABETIC GASTROPARESIS
IRYNA KOSTITSKA
IVANO-FRANKIVSK NATIONAL MEDICAL UNIVERSITY
Introduction: The gastric emptying rate has a decisive role
in the regulation of carbohydrate metabolism in diabetic patients.
Objective: Here we describe the clinical case of autonomic dysfunction and the associated motility disorder leading
to hypoglycemia. A 32 years old manwas admittedto theendocrinology department with severe recurrent convulsions
and transient unconsciousness. His diabetes developed 20
years before when the ill of epidemicparotitis. Although he
did not have digestive symptoms, the 13C- octanoic breast
test (13C-OBT) gastric emptying was done.The half-time of
gastric emptying (HTE) was extremely long (HTE: 318,2 min,
normal range: 40-75 min.). The all functional tests reflected
a severe stage of gastroparesis, with a dominance of parasympathetic dysfunction. The glucose in the blood during
four time per day was measured on consecutive week.On all
23-26 October, 2014
of this time the postprandial glucose was much lower than
the fasting value and on 2 of the 6 days it fell down to the
hypoglycemic range.Parenteral, later oral metoclopramide,
alpha lipoic acid and benfotiamine were administered. The
insulin treatment and the diet were also adjusted. 3 months
later the patient was symptom-free of hypoglycemia, the
HTE was less longer (246.4 min.), did not reveal post-breakfast glucose lowering while the diabetic gastroparesis remained severe.
Conclusions:The measurement of the gastric emptying
might (13C-OBT) be a part of the differential diagnostics of
newly appearing severe hypoglycemia in diabetic patients
with chronic complications of disease. The pathogenic and
symptomatic treatment of diabetic gastroparesis and neuropathy results a stable glucose metabolism, an improvement in quality of life.
46
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2014
P-05
Diabetes
FATAL COMBINATION: THYROID STORM AND SEVERE
DIABETIC KETOACIDOSIS
JEROME REBOLLOS BARRERA, ADAMIER ABDULLA
ZAMBOANGA CITY MEDICAL CENTER
Introduction: Thyroid storm is not an uncommon complication among patients with hyperthyroidism. The same is
true with Diabetic Ketoacidosis among patients with poorly
controlled Type 1 diabetes mellitus. The simultaneous occurrence of these two endocrine emergencies is however
infrequent.
Case Presentation: A 17 year-old female presented with a
diffuse abdominal pain and vomiting for one day. She was
diagnosed with Graves’ disease with Type 1 diabetes three
months earlier. At the emergency room, she appeared
drowsy, agitated, highly febrile with body temperature of
38.7 degree Celsius and tachycardic with pulse rate of 160
beats/min. A grade II diffuse goiter was palpated with bilateral exophthalmoses and dry skin were found.
Investigation and Management: Initial capillary blood glucose revealed hyperglycemia of 499 mg/dl and arterial blood
gas noted compensated metabolic acidosis. She had urine
23-26 October, 2014
ketones of 50 mg/dl. Furthermore, her thyroid profile revealed a significantly low thyroid stimulating hormone and
an elevated free T4. Burch and Wartofsky scoring showed a
score of 65, highly suggestive of thyrotoxic crisis.
Patient was managed with high dose propylthiouracil, dexamethasone and propranolol simultaneously with hydration,
Insulin and Bicarbonate correction for the acidosis. Subsequently after meticulous management of the condition
patient improved significantly and was discharged with full
recovery.
Conclusion: The simultaneous presentation of two endocrine emergencies such as Diabetic Ketoacidosis and Thyroid Storm is possible. In the setting of Diabetes Mellitus,
the concomitant occurrence of Hyperthyroidism may predispose patient to succumb to life-threatening complications
like Diabetic Ketoacidosis and Thyroid Storm
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2014
P-06
Diabetes
THE AUDIT OF DIABETS- DEPENDENT QUALITY OF
LIFE IN ADOLESCENTS WITH TYPE 1 DIABETES
MARIIA MATVEEVA, JULIA SAMOYLOVA
SIBERIAN STATE MEDICAL UNIVERSITY
Objective: to estimate the parameters of quality of life (QOL)
in type adolescens with diabetes mellitus type 1 ( DM1T ).
Materials and methods: the study group was included 42 adolescents (15 ± 0,9 years), desease duration was 2-7 years
(an average 4,6 ± 1,4 years). We conducted general examination and psychological questionnaire ADDQoL.
Results:the mean level of QOL was 1,38 ± 1,0 points. The
majority of patients (67%) rated their QOL as "very good" and
"good €, 62% of the patients stated that if they did not have
diabetes, QOL "would be better".
DM1T has a negative impact on all aspects of life (- 2,8 ±
0,8). The most negative effect was noted in (-4): professional
life, travel, freedom of choice of food and drinks. To a lesser
extent diabetes affects (-2) freedom of movement family life,
outside, motivation, the reaction of others, confidence in the
future, financial position, living conditions.
It was found that diabetes has a more pronounced effect on
the QOL of boys than girls (p = 0,045).Boys often showed a
23-26 October, 2014
decrease in the scales: of travel (-5.9), freedom of choice
of food (-5.8), of beverages (-5.8), professional life (-5), free
time (-4, 8), confidence in the future (-4), physical condition (-4), confidence (-3.9), social services (-3.5), wealth
(-3.5), freedom of movement (- 3).While the girls are most
reduced following indicators: professional life (-2.8), freedom of choice of food (-2), leisure (-1.8), appearance (-1.8),
the scope of travel (-1.7), social services (-1.5), freedom of
movement (-1.4), physical condition (-1.3).
The study found relationship between the level of glycemia
(p = 0,042), HbA1c (p = 0,02), duration of disease (p = 0,036)
with the aspects of quality of life, according to a ADDQoL.
Conclusions:
1. DM1T has a negative impact on all aspects of quality of
life.
2. We found gender differences, providing a more pronounced effect on the QOL of boys over girls. 3. The level
of blood glucose, HbA1c, duration of disease affects the
quality of life.
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2014
P-07
Diabetes
INTRA-LESIONAL EPIDERMAL GROWTH FACTOR
FOR THE TREATMENT OF NON-INFECTIVE DIABETIC
FOOT ULCER
OZLEM HALILOgLU1, MUCAHIT OZYAZAR1, ABDULKADIR ERCALIŞKAN2, ERDEM KOLEMEN2
1
ISTANBUL UNIVERSITY CERRAHPASA MEDICAL FACULTY DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM
2
ISTANBUL UNIVERSITY CERRAHPASA MEDICAL FACULTY DEPARTMENT OF INTERNAL MEDICINE
Introduction: Diabetic foot ulcers are the leading cause of
lower limb amputations in the diabetic population. For treatment, there are several different techniques one of which is
local recombinant human derived epidermal growth factor
(rhEGF) into the wound.
rapid granulation tissue formation in a diabetic foot ulcer
that could be resulted with amputation.
Intra-lesional human-derived epidermal growth
factor administration is a new treatment option
for the treatment of diabetic foot syndrome. New,
Case Report: A 42-year old male patient diagnosed with large, randomized controlled clinical trials are
type 2 diabetes five years ago was referred to our clinic for needed to support the effectiveness of this meththe foul-smelling, leaky lesion on his first toe of the right od.
foot for one month. He was admitted to the hospital with
the diagnosis of uncontrolled diabetes and diabetic foot infection and intensive insulin and antibiotic therapies were
started(Fig.1). The patient was a truck driver and the reason
for the infection was found to be a neuropathic ulcer due to
repetitive foot trauma. Tissue culture was taken and Piperacillin/Tazobactam 3x4.5gr IV antibiotherapy was started
soon after. Enterococcus spp. was detected in the culture.
The debridement of the lesion was done by plastic and reconstructive surgeons (Fig.2). After the succesful debridement and proper antibiotic therapy, the infection resolved.
For the rapid wound healing, the diabetic foot infection committee of our hospital decided to administer rhEGF locally.
75 mcg rhEGF was given three times a week intra-lesionally.
The rapid wound healing was observed after three weeks of
therapy (Fig. 3).
Discussion: Diabetic Foot Syndrome is defined as the clinical situation that includes diabetic neuropathy, peripheral
vessel disease, Charcot neuroarthropathy, ulcer, osteomyelitis and amputation. Local rhEGF administration is a novel
method for the treatment of chronic diabetic foot ulcers. A
double-blind study done by José I Fernández-Montequin
et al. showed that this is an efficacious method on wound
healing. In our case, we also detected a marked healing and
23-26 October, 2014
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Resim 2
Regnum Carya Hotel, Antalya - Turkey
2014
Resim 3
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Regnum Carya Hotel, Antalya - Turkey
2014
P-08
Diabetes
A RARE CASE WITH WERNER’ SYNDROME WAS
DEVELOPED CIRRHOSIS DUE TO STEATOHEPATITIS
DURING OF FOLLOW-UP PERIOD
MEHTAP EVRAN1, GAMZE AKKUS1, MURAT SERT1, TAMER TETIKER1, MAHMUT SANSAL2
CUKUROVA UNIVERSITY MEDICAL FACULTY DEP. OF INTERNAL MEDICINE DIV. OF ENDOCRINOLOGY
CUKUROVA UNIVERSITY MEDICAL FACULTY DEP. OF INTERNAL MEDICINE DIV. OF GASTROENTEROLOGY
1
2
Introduction: Werner’ syndrome (WS) is an rare autosomal
recessive, hereditary systemic disease with progeroid features, usually presenting in adolescence. Its clinical manifestations are short stature, scleroderma-like skin changes,
cataracts, premature aging of the face, gray hair and genital hypoplasia. Also endocrinological abnormalities were
showed such as osteoporosis, hyperglycemia and predisposition to malignancy could occur at the late stagees of the
syndrome. Death of WS can be seen due to myocardial infarction or malignancy. Cirrhosis is an extremely rare manifestation of WS. Here, we want to present a case with WS
who had cirrhosis due to steatohepatitis during of follow-up
period in our clinic.
Case Report: We previously reported two siblings with WS
that we followed since our the initial diagnosis. They were at
20 and 16 years of ages at their first diagnosis. Elder sister
was died after 13 years follow up due to sudden cardiac arrest at 33 years old. The living second case is now 31 yearsold. He had been followed the last presention for liver failure
were evalueted and cirrhosis was diagnosed due to steatohepatitis by liver biopsy. In 1999 initial diagnosis; cataracts,
diabetes mellitus, short stature, and genital hypoplasia (micropenis and right cryptorchidism) were found. In 2002 was
showed steatohepatitis by liver biopsy which was performed
for the persisting high liver transaminases. In 2007 developed gray hair, high-pitched voice, hypergonadotropic hypogonadism and osteopenia. He was a month ago had been
hospitalised for nausea and vomiting with hematemesis. He
was admitted to our hospital performed in the upper gastrointestinally endoscopy by the department of gastroenterologia was found esophageal varices and to them was performed band ligation. Laboratory investigations performed
in our clinic revealed the following results: Hb 9.4 g/dL, MCV
23-26 October, 2014
75 fL, WBC 4000 µL, Plt 103000 µL. Blood analysis showed
glucose 201 mg/dL total protein 7.1 g/dL, albumin 2.8 g/dL,
ferritin 5.4 ng/dL, HbA1c 7.0%, PT 14.6 second, AST 59 U/L
(0 to 40), ALT 30 U/L (0 to 41), protein electrophoresis was
showed as hyper gammaglobuline (γ 40.15%) with broadbased monoclonal spike. It was not found for other causes
of chronic liver disease. Abdominal doppler ultrasonography
was showed the portal vein diameter 10 mm, long axis of
the spleen 130 mm. An abdominal CT showed splenomegaly,
intra-abdominal minimal free fluid and liver was consistent
with chronic liver disease. A liver biopsy was performed and
revealed cirrhosis due to steatohepatitis (Figure 1). He is
still following by the both endocrinology and gastroenterologia departments.
In conclusion, reason of the our presentation in WS is very
rare finding circcosis due to steaohepatitis.
Figure 1. Microscopically, liver is replaced by regenerative
nodules surrounded by fibrous bands (Hematoxyline& Eosin
(HE), x40)
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2014
P-09
Diabetes
IS EVERY YOUNG DIABETIC TYPE 1?
OMUR TABAK, BELGIN BORAN, AYSE FADILOGLU, EYYUP CAVDAR, MEHMET HURSITOGLU
ISTANBUL KANUNI SULTAN SULEYMAN EGITIM VE ARASTIRMA HASTANESI
Background:Type 2 diabetes mellitus is not any more rare
in young.
Method:A 20 year old obese female with a BMI of 38 kg/
m²presented with polyuria, polydipsia and fatigue. She was
given a treatment based on insulin as she was Type 1 diabetic. She was autistic(IQ=57). Her grandmother had Type 2
diabetes mellitus and her cousin had Type 1 diabetes mellitus. Her fasting plasma glucose and HbA1C were 155 mg/dl
and 10.2% respectively at diagnosis. Fasting c-peptide was
found normal (6,99) , anti-GAD (<5) andanti-insulin (<0.40)
antibodieswere found negative. Her lipid and hormon profile including thyroid hormones were normal. Diabetic complications such asneuropathy, nephropathy and retinopa-
23-26 October, 2014
thy didn’t occur. Finally, her insulin treatment was stopped
and metformin was started together with diet+exercise. 6
months later, herfasting plasma glucose and HbA1C were 79
mg/dl and 5,8%; 12 monthslater,herfasting plasma glucose
and HbA1C were 85 mg/dl and 5,2% respectively.
Result:Our patient continued well with lifestyle changes (diet+exercise) and metformin.
Conclusion:Type 2 diabetes mellitusis occuring as a new
clinical problem in children and adolescents. Recent reports
indicate an increasing prevalence oftype 2 diabetes mellitusin young. Management of choice is lifestyle intervention
followed by pharmacological treatment (e.g., metformin).
52
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2014
P-10
Male reproductive endocrinology
A UNIQUE CASE OF LAMOTRIGINE INDUCED
DISORDER OF SEXUAL DIFFERENTIATION
SATYAM CHAKRABORTY, ANIRBAN SINHA, ANIMESH MAITI, BIPLAB MANDAL, LAKSHMI DEY,
SUBHODIP PRAMANIK, RAVINDRA SHUKLA
DEPARTMENT OF ENDOCRINOLOGY, MEDICAL COLLEGE AND HOSPITAL, KOLKATA
Introduction: Disorders of sexual differentiation (DSD) are in
itself rare entities but in past 15 years cases of anomalies of
male sexual differentiation are on the rise.Several researchers have pointed out the role of several endocrine disruptors
as a probable cause of these disorders. We report a case of
46XY DSD child whose in-utero development was probably
interfered with the maternal intake of Lamotrigine.
Case Report: A case of 1 year old child born of non-consanguineous marriage with father’ age being 29 & mother’ age
being 25 at the time of conception has been presented to us
with genital ambiguity noted since birth. The baby was born
of full term normal delivery with birth weight of 3.6 kg preceeded by an uneventful antenatal period excepting the fact
that the mother was suffering from seizure disorder & was
on lamotrigine 150 mg/day during pregnancy. There was no
episode of seizure during the antenatal period. No historyof
maternal virilization during pregnancy. The baby cried immediately after birth & had no history of prolonged jaundice,
hypoglycemia or hypotension since birth. There was history
suggestive of global developmental delay since birth. The
genital examination of the child revealed under androgenized male genitalia in the form of labio-scrotal folds with
mild pigmentation & rugosity which contained palpable gonads bilaterally, the volume being around 1 ml each. There
was a phallus with a length of 2.5 cm & diameter of 1 cm and
urethral orifice present at base of the phallus. Initial anterior pituitary hormonal evaluation revealed a normal thyroid
profile and normal hypothalamo-pitutory-gonadal axis in the
form of normal serum LH, FSH and normal basal testosterone levels which was appropriate for a child aged 9 months.
The serum DHEAS (Dehydroepiandrosterone-sulfate) and
serum androstenedione also measured. hCG (human chorionic gonadotrophin) stimulation test performed by injecting
23-26 October, 2014
5000 IU of hCG intramuscularly & collecting blood for stimulated hormone profiles after 72 hours.From the aforementioned data the serum testosterone: androstenedione ratio
was found to be 866.66 which disprove 17-Beta-Hydroxy
steroid dehydrogenase deficiency. The ratio of testosterone
to dihydrotestosterone (T:DHT) was calculated as 21.5. The
definitive diagnosis of 5-Alpha Reductase type 2 deficiency
in post pubertal male requires a ratio of 35 but it has been
mentioned in medical literature that in the neonatal period
any ratio greater than 8.5 may point to 5-alpha Reductase
Deficiency & in infants the ratio typically exceeds 10.Thus it
suggests diagnosis of 5-alpha reductase type 2 deficiency.
Conclusion: Our case probably for first time throws light
on the possibility of lamotrigine as an endocrine disruptor
causing ambiguous genitalia because of an inhibitory impact
on the enzymes of androgen biosynthetic pathway, perhaps
5-α alpha reductase enzyme also.
Resim 3
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2014
Resim 4
Resim 5
23-26 October, 2014
54
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2014
P-11
Bone/Calcium
BROWN CELL TUMOR FROM PARATHYROID
CARCINOMA
JEROME REBOLLOS BARRERA, CHRISTIAN CESAR ESPLANA
ZAMBOANGA CITY MEDICAL CENTER
Introduction: Parathyroid carcinoma is a rare cause of hyperparathyroidism. In most cases, hyperparathyroidism is
caused by a single benign adenoma. The vast majority of the
remaining cases are caused by parathyroid hyperplasia or
multiple adenomas. We present here a case of a young Filipina who presented with multiple fractures on all extremities and bilateral parathyroid adenoma.
Case Presentation: A 19 year-old Filipina presented with
bone pains for 7 months associated with fatigue, anorexia,
weight loss and muscle weakness. Subsequently, she had
multiple fractures on all extremities and fixed hard masses
on the left humerus and tibia. Her past medical and family
histories were unremarkable.
Investigations:Corrected calcium was elevated at 15.4mg/
dL, Phosporus was decreased at - . Intact PTH (iPTH) was
extremely high at 2001 pg/ml (8.5-72.5). X-ray of the extremities showed osteopenia, endosteal resorptive changes and
multiple pathologic fractures. Bone biopsy revealed brown
cell tumor/multifocal polyostotic giant cell tumor and negative for malignancy.). Ultrasonography of the neck revealed
parathyroid adenoma inferiorl ofleft thyroid gland measuring
23-26 October, 2014
2.3 x1.1x1.0cm. Ultrasound-guided FNAB revealed findings
consistent with parathyroid carcinoma. She was hydrated
and was given diuretic to control the severe hypercalcemia.
She underwent 3 ½ gland parathyroidectomy with en-bloc
left thyroid lobectomy. Intraoperative findings showed a ___
left mass with non well-circumscribed borders invading the
capsule and local tissues and a right mass _______ .Serum
Calcium and iPTH immediately after OR decreased to 12.8
mg/dL and 211.8 pg/ml respectively. Further reduction was
noted after 24 hr of surgery (iPTH, 48 pg/ml; Corrected Calcium: and 9.2 mg/dL).
Discussion/Conclusion: Parathyroid carcinoma is a rare
malignancy of the parathyroid glands. These tumors usually
secrete parathyroid hormone, thereby producing hyperparathyroidism, which is usually severe. Surgery with en-bloc resection is the initial therapy, but when the tumor is no longer
amenable to surgical intervention with intent to cure, treatment becomes focused on the control of hypercalcemia.
Key words: Parathyroid carcinoma, hypercalcemia, hyperparathyroidism
55
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2014
P-12
Bone/Calcium
A RARE CASE OF PRIMARY HYPERPARATHYROIDISM
ASSOCIATED WITH PRIMARY ALDOSTERONISM
BARIS SARIAKCALI, MEHTAP EVRAN, MURAT SERT, TAMER TETIKER
CUKUROVA UNIVERSITY MEDICAL FACULTY DEP. OF ENDOCRINOLOGY, ADANA, TURKEY
Introduction: Primary hyperparathyroidism, one of the most
common causes of hypercalcemia, results most oftenfrom
the occurrence of one or more adenomas in previously normal parathyroid glands. Inherited forms of primary hyperparathyroidism are uncommon.We present a case of primary
hyperparathyroidism caused by parathyroid adenoma associated with hyperaldosteronism (Conn’s syndrome), which is
rarely seen in clinical practice.
Case: A 38-year-old male patient was admitted to our polyclinic for hypercalcemia detected by another center. In anamnesis he took ramipril+hydrochlorothiazide for hypertension 2 years ago.After starting hypopotassemia this medicine
has replaced with amlodipine. Family history was normal.TA
150/90 mmHg, pulse 74/min. The other systemic and laboratory findings were normal. Serum Ca 10.9mg/dl (8.8-10.2),
inorganic P 2.4mg/dl (2.7-4.5), Mg 2.3(1.6-2.6), albumin 3.9
gr/dl, PTH 200pg/ml (12-88), Na 138mmol/L, K+ 2.8mmol/L,
25-OH vitamin D3 22ng/ml (14-66). Calcium level in 24-hour
urine 251mg/day, inorganic P 88mg/day, and K+ value in spot
urine 66mmol/L. Aldosterone level was measured after normalization of his serum potassium level (result: 26.9ng/dl),
plasma renin activity was <0.15ng/mL/hour. Since associated primary hyperparathyroidism and adrenal adenoma were
found, the patient was evaluated for MEN syndromes. Levels
of catecholamine and its metabolites in 24-hour urine were
normal. In the 1 mg dexamethasone suppression test, serum cortisol level was suppressed. Serum prolactin, TSH,
ACTH, GH, IGF-1 and calcitonine values were normal. Thyroid ultrasound revealed a 24x14x12.5 mm hypoechoic area
at the upper posterior part of the right thyroid lobe, within
the thyroid capsule (intrathyroidal parathyroid adenoma?).
MIBI scintigraphy of parathyroid glands was consistent with
the ultrasound finding. Abdominal MRI revealed 1.6cm ad-
23-26 October, 2014
renal gland lesion consistent with adenoma. Pituitary MRI
was normal.
The patient was operation on parathyroid adenoma (Picture
1). At the after the operation serum Ca, inorganic P andPTH
levels were foundnormal. The result of pathology confirmed
the parathyroid adenoma. He had started spironolactone for
hypertension, but the drug was discontinued as he suffers
from erectile dysfunction. He was referred for laparoscopic
operation for the lesion (1.6 cm) identified at the left surrenal gland. Pathologic examination revealed surrenal adenoma (Picture 2). Since it was seen that his TA was normal and
hypokalemia was corrected during the follow-up examinations, he was not prescribed any anti-hypertensive medication. Genetic screening revealed that he is negative for the
mutation of the MENIN gene.
Conclusions: In our case, diagnosis of MEN 1 syndrome
could not be confirmed genetically. However, the main reason of the presentation is the fact that association of parathyroid adenoma and Conn syndrome is rarely seen in clinical practice.
Picture 1. It was seen parathyroid adenoma at the operation
56
Regnum Carya Hotel, Antalya - Turkey
2014
Picture 2. Pathologic examination revealed surrenal
adenoma
23-26 October, 2014
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Regnum Carya Hotel, Antalya - Turkey
2014
P-13
Pituitary
HYPOPITUITARISM AFTER FULL DOSE CRANIAL
RADIATION THERAPY - CASE REPORT
EVA ZEMLJIC
UNIVERSITY MEDICAL CENTRE MARIBOR, SLOVENIA
Hypopituitarism results from the impaired production of one
or more of the anterior pituitary trophic hormones. Reduced
pituitary function can result from inherited disorders; more
commonly, it is acquired and reflects the mass effects of tumours or can be the consequence of head trauma or radiation. Radiation damage occurs after cranial irradiation in
cases where the hypothalamus and pituitary fall within the
field of radiation. Hormone deficiency is dose dependant.
The most vulnerable is the growth hormone axis, followed
by gonadotropins and less vulnerable adenocorticotropic
and TSH axis.
Hormone findings: TSH 6.2, FT3 3.29; FT4 5.2; Cortisol in 1ug
Synacten test after 30 min 240; ACTH 12.9; IGF1 <25; testosterone 1.7; LH 0.6; FSH 1.2; prolactin 64;
Case: We report on a 54 years old male who had maxillary
sinus adenocarcinoma, which was resected surgically with a
full dose radiation therapy (60Gy) following. 3 years later he
was first admitted to an urologist because of ED and then to
our clinic on account of low values of testosterone. He told
us that he was not feeling well for the last 2 years and that it
got worse in the last 6 months. He was tired, had no energy,
felt cold, lost almost all hair on the extremities and chest,
had no libido, lost 12kg, slept more than usual.
After 3 months he felt better, the urologist did not find any
contraindications for testosterone therapy, therefore we
added testosterone gel 50mg/d.
At clinical examination he was pale, had very fine, dry skin,
weak pigmentation, almost no secondary sexual characteristic but there were no other pathological findings.
Laboratory findings: Normal total blood count, mild hyponatriemia (134mmol/L) and hypokalemia (3.7mmol/L), all
other biochemical findings were normal.
23-26 October, 2014
MR of the head: no changes in sellar space.
Discussion: With laboratory findings we confirmed the diagnosis of hypopituitarism. The cause was radiation therapy
of the maxillary sinus adenocarcinoma. The patientreceived
hormone replacement therapy with hydrocortisone 30mg/d
and levothyroxine 75mcg/d.
After 6 months the patient’s hormonal status was normal,
he felt much better, gained some weight, shaved regularly,
libido was normal. We are continuing with the hormone-replacement therapy at regular check-up.
Conclusion: Hypopituitarism can be a life-threatning complication of cranial irradiation in cancer survivors. The clinical findings are usually gradual and nonspecific. Regular
assessments of the anterior-pituitary function are important
in such patients to achieve a timely diagnosis and enable the
introduction of appropriate hormone-replacement therapy.
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Regnum Carya Hotel, Antalya - Turkey
2014
Bridging the World of Endocrinology
DMR Congress / Incentive / Organization
The Society of Endocrinology and Metabolism of Turkey
Barbaros Blv. Akdoğan Str. No: 23/2
Meşrutiyet Cad. Ali Bey Apt. 29/12
Beşiktaş, İstanbul - Turkey
Kızılay, Ankara - Turkey
Phone : +90 533 111 9 367 • Fax : +90 212 258 5 029
Phone : +90 312 425 20 72 • Fax : +90 312 425 20 98
[email protected] • www.dmrturizm.com.tr
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