Download A/ primary amenorrhoea with secondary sexual development

GENERAL OBJECTIVE
– Students will understand amenorrhoea
and types and causes as well as
management.
Specific objectives
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After attending lecture, the student will
can:
Know what is the amenorrhoea and it’s
types.
List causes of primary amenorrhoea.
Given patient history ,examination and a set
of laboratory data, correctly diagnose the
disease. (problem-solving).
Discuses treatment.
Amenorrhea
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Amenorrhea is the absence of menstruation.
Amenorrhoea can be classified as:
A. Physiological
1.Before puberty.
2. During pregnancy.
3. During lactation.
4. After the menopause.
Before puberty:
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Oestrogen level is not sufficient to
promote adequate endometrial
development to cause bleeding.
During pregnancy.
During lactation:
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The average time between delivery and the
first subsequent period and associated
Ovulation is:
10-14 weeks in those patients who do not
breast-feed their infants.
In those with breast feeding ,it depends on
duration of breast feeding.
During lactation, Prolactin is secreted in large
amounts by anterior pituitary gland and there is
suppression of LH secretion so the ovarian
follicles may mature but fail to rupture.
After the menopause.
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Cessation of oestrogen production
from the ovary due to no graffian
follicles in ovary.
B. Pathological:
can be classified as:
 Primary amenorrhoea: No spontaneous
uterine bleeding has occurred.
 Secondary amenorrhoea: cessation of the
periods after menstruation has been
established for more than six months in a
normal female of reproductive age that is
not due to pregnancy.
Primary amenorrhoea
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No spontaneous uterine bleeding has
occurred by the age of:
*14(13) years in the absence of
secondary sexual characteristic
or
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*16 years in presence of secondary
sexual characteristic.
Aetiology of primary
amenorrhoea
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classify the etiologies of primary
amenorrhoea based on the
presence or absence of
secondary sexual
characteristics.
A/ primary amenorrhoea with
secondary sexual development:
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1.Out flow
obstruction:
Imperforate hymen.
Transverse vaginal
septum.
Cervical agenesis.
A/ primary amenorrhoea with
secondary sexual development:
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a. Mullerian agenesis (Absent uterus
(Rokitansky syndrome).
b. Surgical removal of the uterus.
c. Damage after radiotherapy.
d. Asherman's Syndrome (very rare in
primary amenorrhoea)
A/ primary amenorrhoea with
secondary sexual development:
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3. Complete
androgen
insensitivity
syndrome (46XY)
(testicular
feminization).
A/ primary amenorrhoea with
secondary sexual development:
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4. Ovarian cause: (unusual)
Anovulation:
poly cystic ovary syndrome (PCO)
Hyperprolactinemia.
Premature ovarian failure.
Resistant ovary syndrome.
Surgical removal of the ovaries.
exposure to radiation.
A/ primary amenorrhoea with
secondary sexual development:
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5.Pituitary disorders:
Pituitary adenomas.
Sheehan's syndrome.
A/ primary amenorrhoea with
secondary sexual development:
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Hypothalamic disorders:
Space occupying lesion: crainopharyngioma, tuberculosis,
sarcoidosis.
Congenital GnRH deficiency leads to low gonadotropin levels.
When this occurs with anosmia, it is diagnosed as Kallman
syndrome.
Weight loss. Anorexia nervosa.
Excessive exercise.
Environment : Sudden change in the environment as in
change of residence or in occupation can cause amenorrhoea.
Emotional upsets and mental stress. Stress during
examination can also cause loss of menses.
major psychiatric disorders such as Psychoses, depression.
A/ primary amenorrhoea with
secondary sexual development:
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7.Pregnancy.
8. Idiopathic. Constitutional delay
A/ primary amenorrhoea with
secondary sexual development:
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9. Other causes :
*Thyroid: (hypothyroidism and
hyperthyroidism)
* Diabetes mellitus.
*Adrenal Tumours.
*Chronic diseases.
B . primary ammenorrhoea without
secondary sexual development
(sexual infantilism):
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Patients with primary
amenorrhoea and no
secondary sexual
characteristics display the
absence of gonadal hormone
secreation.
*Gonadal agenesis and
dysgenesis (including Turner
syndrome).
*Delayed puberty.
(Constitutional).
B . primary ammenorrhoea without
secondary sexual development
(sexual infantilism):
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*Anorexia nervosa. (if it occurred
before development of secondary
sexual
characters)
*17 alpha-hydroxylase deficiency.
(Prevent synthesis of sex steroids).
Diagnoses unique to primary
amenorrhea include:
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vaginal agenesis.
androgen insensitivity syndrome.
Turner syndrome (45,X).
The remaining causes should be considered
in patients with primary amenorrhea and in
patients with secondary amenorrhea.
Note: unique main only present in primary
amenorrhoea.
Management:
History
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An adequate history includes:
Childhood growth and development
including height and weight charts and age
at breast development if present.
Presence or absence of cyclical symptoms
mainly abdominal pain, difficulties in
urination and even urinary retention,
difficulties in defecation. (Outflow
obstruction).
Excessive weight loss/ presence of eating
disorder.
History
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Excessive exercise.
psychosocial condition should be known.
vasomotor symptoms, hot flushes, virilizing
changes, galactorrhea, fatigue, palpitations,
nervousness, headache, hearing loss, and visual
changes.
Family history of anosmia, androgen insensitivity in
family as it may affect other females in the family
and ascertaining the age at menarche of the
patient's mother and sisters is advisable because
the age at menarche in family members can occur
within a year of the age in others.
Any history of chronic illness, trauma, surgery, and
medications is also important.
A sexual history should be obtained if married.
Physical examination:
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Pituitary infantilism due to lack of growth hormone.
Turner’s syndrome. (Webbed neck, increased
carrying angle, lack of breast development, and
short stature).
-The girl's stature may be tall which may be due
to androgen insensitivity.
* Girl weight and calculate her body mass index
(BMI).
*development of secondary sexual characteristic
(breast development, axillary and
pubic hair growth).
Physical examination:
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* Any evidence of abnormal virilization
(as clitromegally) as seen in Adrenal or
ovarian
tumors.
* hirsutism.
*Fundoscopy examination, visual filed
examination and neurological
examination if pituitary tumour is
suspected.
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Breast examination:
Look for presence of breast and its
stage of development.
Presence of Galactorrhea.
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Pelvic examination:
Should be undertaken in the presence of
the patient’s mother.
Inspect vulva to see opening of introitus
(opened, closed by bluish membrane, closed)
A bimanual examination is inappropriate
(contraindicated) in unmarried girl.
Furthermore, it may be more appropriate to
defer this from the first consultation to assure
the patient’s confidence in future
management and in most cases information
taken from transabdominal ultrasound
examination of the pelvis.
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Rectal examination shows the absence
of uterus.
Investigations:
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Start investigation in cases with primary
amenorrhoea
14 years in the absence of secondary sexual
characteristic
16 years in presence of secondary sexual
characteristic
in some circumstances, it is reasonable to initiate
an evaluation despite the absence of the above
strict criteria as:
in patient with the stigmata of Turner syndrome.
in patient with obvious virilization.
in a patient or her parents are concerned.
Investigations:
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The history and physical findings help in
selecting tests in a female patient with
amenorrhea.
Chromosomal analysis:
In uncertain diagnosis, full chromosomal
analysis and Karyotype should be done.
In Karyotype A buccal smear and
examination of the polymorphnuclear
leucocytes to determine if chromatin
positive (XX) or chromatin negative (XO or
XY) and some time full chromosomal
analysis may be needed.
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Investigation for chronic illness:
If the history or physical findings
suggest a chronic disease process, the
following may be indicated including
measurement of the erythrocyte
sedimentation rate (ESR), liver
function tests, renal function test and
urinalysis.
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should include follicular stimulation
hormon (FSH),lutinizing hormone (
LH), oestradiol, testosterone,
Prolactin, thyroid function test, growth
hormone , adrenocorticotropic
hormone (ACTH).
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The result in hypothalamic or pituitary
cause is low FSH, LH, oestradiol.
The results in ovarian cause are high
gonadotrophin and low estrogen.
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Imaging studies:
*Ultrasound:
Determine the presence, state and size of
ovaries and any follicular activity.
Determine the presence and size of uterus.
Congenital anatomic abnormalities of uterus
or vagina or both are often associated with
renal abnormalities such as unilateral
solitary kidney so these patients should
have intravenous pyelogram.
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*a coned view of the sella turcica or
MRI of the pituitary is indicated.
*Bone age X ray to determining bone
age which is important in
differentiating pubertal delays as a
cause.
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*Laproscopy
Laproscopy rarely used to assess
pelvic organ. It is useful in:
* cases which there is doubt about the
nature of the gonads.
*cases where ovarian biopsy is needed
to determine presence of primordial
oocytes.
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Most of the conditions are rare and
constitutional delay without doubt is
the most common diagnosis. However,
as the rest of the diagnoses have
serious implications this diagnosis of
constitutional delay should only be
made when all other syndromes have
been excluded. Constitutional delayed
puberty is a diagnosis of exclusion.
Investigative pathway for a patient with
normal sexual characteristics.
Investigative pathway for a patient with no
secondary sexual characteristics
Treatment:
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No attempt should ever be made
to treat patients with primary
amenorrhea until a firm diagnosis
is reached.
Patient with sexual infantilism
(without secondary sexual
charcteristic)
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Cases of Turner's syndrome
Induce breast development by very gradually
increasing oestrogen doses then change to
definitive treatment of hormone replacement
therapy (estrogen and progestrone). They
have no hope to achieve pregnancy.
In hypogonadotrophic hypogonadism who
seek fertility will need therapy with either
human menopausal gonadotrophin injection or
gonadotrophin releasing hormone (GnRH).
In 17-hydroxylase deficiency have no hope to
achieve pregnancy.
Patient with primary amenorrhoea
with secondary sexual
development:
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androgen insensitivity
* Excision of gonads as this gonad is a testis
and there is a malignant potential in about 30%
of cases
*Creation of neovagina to permit sexual
intercourse.
*Treatment with oestrogen to augment breast
development and prevent osteoporosis.
* Psychological support.
Those women are unable to be fertile at all.
Patient with primary amenorrhoea
with secondary sexual
development:
Imperforate hymen
 Treated by hymenectomy.
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Patient with primary amenorrhoea
with secondary sexual
development:
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Transverse vaginal septum
Surgical correction is indicated but
difficult technique is needed.
Cervical agenesis:
Hysterectomy is recommended.
Constitutional delay
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Girls in whom normal secondary sexual
characteristics exist. There is no anatomical
anomaly and endocrine investigations are all
normal. It is reasonable to await events as these
young women will eventually menstruate
spontaneously as the maturation process proceeds.
There is no need to suggest any treatment other
than annual review.
In some circumstances it may be useful to promote
a menstruation using the oral contraceptive pill for
one cycle to prove that menstruation can occur and
this can be extremely reassuring.
Other causes treated as it is (discussed in specific
subject lectures)
Imperforate hymen
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The imperforate hymen may present
at two ages of development.
It may present in:
Early childhood
When the infant presents with a bulging
hymen behind which is a mucocele, the
vagina expanded by vaginal secretions of
mucus. Treated by hymenectomy and does
not subsequently cause any problems
following hymenectomy.
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At puberty
The very distensible features of vagina
allow quite large quantities of blood to
collect in some cases. This situation is
known as haematocolpos.
When some blood does accumulate
within the uterine cavity it is known as
a haematometra.
Diagram of
hematometra
and
hematocolpos
with
imperforate
distal
transverse
vaginal septum
History:
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A pubertal girl complains of
intermittent cyclical abdominal pain.
The pain is due to dysmenorrhoea
associated with the accumulation of
menstrual blood within the vagina. As
the mass enlarges there may be
associated difficulty with micturition
and defaecation and even associated
with retension of urine in some cases.
Examination:
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Normal stature and have normal
secondary sexual characteristic.
Abdominal examination will reveal on
occasions an abdominal swelling
Pelvic examination by inspection of
external genitalia showed a tense
bulging bluish membrane (which is the
hymen) closing the introitus.
Abdominal mass with
imperforate hymen
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observation of
the introitus
will display a
tense bulging
bluish
membrane
which is the
hymen.
Vaginal
agenesis.
Not to be
confused
with
imperforat
.e hymen
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Investigation:
Ultrasound showed blood collection in
vagina and uterus.
Treatment:
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After explanation of the condition and
obtaining parents consent,a cruciate
incision (+) in the hymen allows
drainage of the retained menstrual
blood. From medico-legal point of
view, the girl must be given a report
confirm that the hymen was opened
by surgical operation as treatment.