2. onset of breast development
pubic and axxillary hair
development
onset of menstration
3. -only in 2.5% of female
1-among which 40%
have constitutional
delay(with no
explation)
2-and rest of having
genetics defect
4. GnRH
FSH,LH
Estrogen and progestron
compartment A
dec GnRh
dec FSH and LH
dec E and P
HYPOGONADOTROPHIC
HYPOGONADISM.
compartment B
dec E and P
inc GnRH
inc FSH and LH
HYPERGONADOTROPHIC
HYPOGONADISM
compartment C
normal level of
all harmones
among with sec sexual
characters
EUGONADOTROPHIC
EUGONADISM
5. Aetiology of primary amenorrhoea
• 3-Heterosexual development
• 1- Normal secondary sexual
characteristics
• 2- Absent secondary sexual
characteristics
classification
6. 1- Normal secondary sexual characteristics
1- IMPERFORATE HYMEN:
c/o cyclic pelvic pain
on local examintion ( tense bluish bulging membrane )
Haematocolpus: collection of menstral blood with in the vaginal cavity
Haematometra: collection of menstral blood with im the uterine cavity
2-TRANSVERSE VAGINAL SEPTUM:
occurs when vagina fails to cannulate
at 3 level ,upper ,middle and lower
3-MULLERIAN AGENESIS ( Mayers rokitansky kuster hauser syndrome
MRKH)
normal external genitalia but blind ending vaginal dimple not more
then 1.5 cm in depth.
uterine development is usually absent
40% of these patient have renal abnormalities
7. • 4- ANDROGEN INSENSITIVITY SYNDROME
• Genotype is 46XY.
• structural abnormality in the androgen receptor ,due to defect in receptor gene.
• musculanizing effect of testestorone is prevented so patients are therfore
• phenotypically female with normal breast development.
• pubic hair is very scanty.
• vulva is normal and vagina is ussually short.
• 5-RESISTANT OVARY SYNDROME
• extremely rare cause
• absence and malfunction FSH receptor in ovarian follicle.
• 6-CONSTITUTIONAL DELAY
• Numbers of girls have constitutional delay and normal secondary sexual
characteristics ,but there is no anatomical anomaly and endocrine investigation all
• are normal .If serial sampling carried out over 24 hour period these are found to
have immature pulsatile release of GnRH.
• usually menstrate by the age of 18
8. 2 Absent secondary sexual characteristics
(Normal height)
1- kallman’s syndrome
.24 gene mutation
.congenital defficiensy in GnRH secreation
.due to maldevelopment of arcuate nuclues of
hypothalamus.
Anosmia.
. normal pituatary glands.
2- Hyperprolactenemia.
3- Excessive excercise.
4- Ovarian failure(chemo or radiotherapy)
5- Galactosaemia(inborn error of galactose metabolism leads to
ovarian cell destruction due to accumulation of galactose
metabolites
9. • 2- ABSENT SECONDARY SEXUAL
CHARACTERISTICS (short stature)
• 1-GONADAL DYSGENESIS
TURNER’s syndrome
.45XO
.Aneuploidy
.streak gonads (dec E)
.Advance maternal age doesnot
inc the risk of having child with
turner syndrome.
.growth failure,ovarian failure
and
cardiovascular abnormalities.
10. • 2-TUMORS(cranioppharyngioma)
• 3-EMPTY SELLA SYNDROME(congenital absence of
pituitarygland)
• 4-CONGENITAL INFECTION.(hydrocephalus).
• 3- HETEROSEXUAL DEVELOPMENT:
• 1- CONGENITAL ANRENAL HYPERPLASIA(CAH)
• Enzyme defficiency in steriod pathway of adrenal gland
• ambigious genitalia
• 2- ANDROGEN SECREATING TUMOR
• 3- 5alpha Reductase defficiency
• XY female
• convertion of testestorone into 5- hydroxy testestorone is inhibited
therefore these are phenotypically female but internal genitalia is of male.
• 4-TRUE HERMAPHRODITE(both testicular and ovarian tissue
present simultanously)
• 5- ABSENT MULLERIAN INHIBITOR.
11. clinical approach to primary
amenorrhoea
• HISTORY.
* Rule out pregnancy first..
13. TREATMENT.
• Psycological councelling.
• If karyotype is XY, the potential of
malignancy should be explianed
and removal of gonads required.
• Imperforate hymen,hymenectomy
can be done by giving cruciate
incision.
• Vaginal reconstructive surgery can
also be perform.
• dopamine agonist (bromocriptine).
