Download Endocrine diseases

Endocrine disorders in the infancy
and childhood
Éva Erhardt MD, PhD
- thyroid diseases
- adrenal diseases
- polycystic ovary syndrome (PCOS)
Most common thyroid conditions in
childhood
• Hypothyroidism
– Congenital
– Aquired
• Hyperthyroidism
• Euthyroid goiter
Causes of cong. hypothyroidism
• Aplasia, hypoplasia or maldescent of thyroid
(80-90 %)
embryonic defect of development
• Defective synthesis of thyroid hormone
• Maternal ingestion of medication during
pregnancy
• Iodine deficiency
Clinical manifestations
•
•
•
•
•
•
•
•
•
•
•
constipation
prolonged jaundice
feeding difficulties
lack of interest
somnolence
enlarged tongue
muscle hypotonia
umbilical hernia
dry skin
bradycardia
mental retardation
Cong. hypothyroidism
•
-
Screening !!
from blood spot
at 5 days of age
disadvantage: no differentiation of secunder
and tertier hypothyroidism
Chronic lymphocytic thyroiditis
Adrenal
Adrenal hypofunction
(HYPADRENIA I.)
• Causes
– Addison’s disease
– Waterhouse-Friderichsen-sy.
– Sudden discontinuation of steroid treatment
– Adrenal hemorrhage, cyst
– Idiopathic congenital adrenal
hypoplasia/aplasia
Primary – adrenal
Secondary – hypophyseal
HYPADRENIA II.
• Symptoms: weakness, orthostatic collapse,
hyperpigmentation, hypoglycaemia,
hyponatraemia, hyperkalaemia
• Addison-crisis: infusion and hidrocortisone
injection
• Therapy
– Hydrocortisone
– Mineralocorticoids
Congenital adrenal hyperplasia
(CAH)
21 hydroxilase defect
• 95-97% of the all CAH
• Prevalence: 1:14000 (3/4- salt losing)
• Short arm of the 6. chromosome
CYP21gene (P450c21) - 21 hydroxylase def.
• Production of androstendion
• Insufficient production of cortisol
• Insufficient production of aldosteron (not
necessary)
21-hydroxilase deficiency
Clinical manifestations
• Salt-losing
2-4 weeks of age: vomiting, dehydration
seK ↑, seNa ↓
• Simple virilizing
abnormal virilization –girls: ambiguous
genitalia (Prader 5), boys: from two years of
age: pubarche praecox, accelerated linear
growth
• Late-onset
21-hydroxilase deficiency. Therapy
• Glucocorticoid-substitution
(8-12 mg/m2/day hydrocortisone)
• Mineralocortocoid substitution
(0.05-0.1 mg/day)
• NaCl ( till 2 yr of age: 0,5-1g/day)
• Feminizing genitoplastic surgery
Polycystic ovary syndrome
Polycystic ovary syndrome
• 1935. Stein-Leventhal
• 1990. National Institutes of Health
hyperandrogenism, chronic oligo-anovulation
• 2004. Rotterdam - Consensus Workshop
Criterias of PCOS
• oligo-amenorrhoea
• clinical and/or biochemical signs of
hyperandrogenism
(except e.g. hyperprolactinaemia, late onset
CAH, Cushing sy, tumor)
• PC ovaries (more then 10 cysts, max. 10 mm)
Pathogenesis of PCOS
• it’s not known exactly
• main features: insulin resistance and intra-,
extraovarial hyperandrogenism
• inzulin ↑, IGF-1 ↑, LH ↑
• number and function of theca cells ↑, function
of granulosa cells ↓
→ size of ovary ↑, follicular atresia, androgene
production ↑
PCOS in puberty
•
•
•
•
•
irregular cycles ( < 6 cycles/year)
hyperandrogenism
resistance of insulin, hyperinsulinemia
obesity (50%)
psychosocial problem
Acne - severe hyperandrogenism in a girl
Lab tests
•
•
•
•
•
testosteron ↑
DHEAS ↑
sex-hormone binding globulin (SHBG) ↓
insulin ↑
dyslipidaemia: cholesterol ↑, TG ↑, LDLcholesterol ↑, HDL-cholesterol ↓
• IGT (30-40% of obese PCOS), T2 DM
Therapy
• lifestyle changes (diet, physical activity)
• insulin sensitizers
• antiandrogenes
Therapeutical effect of metformin
insulin ↓
androgene ↓, SHBG ↑, LH ↓, dyslipidaemia ↓
IGT, T2 DM,
cardiovascular diseases
metabolic sy ↓
ovulation ↑
fertility ↑
endometrium cc ↓