Primary amenorrhea is the failure to menstruate by age 16 with normal sexual development or by age 14 without sexual development. Causes include absent or obstructed uterus/vagina, XY female (androgen insensitivity syndrome), resistant ovary syndrome, defects in hypothalamus or pituitary gland, or defects in ovaries. Evaluation depends on presence or absence of secondary sexual characteristics and may involve hormonal assays or imaging to identify the cause. Common causes without sexual development include Turner's syndrome, congenital adrenal hyperplasia, and androgen insensitivity syndrome.

1. Primary Amenorrhoea

2. Primary amenorrhea is the failure to menstruate by the age of 16
years in the presence of normal secondary sexual development or
by 14 years in the absence of secondary sexual characteristics
warrants investigation.

3. Causes
 Patients with 2ry sexual characteristics
Absent uterus and vagina
Out flow tract obstruction
XY female (androgen insensitive syndrome)
Resistant ovary syndrome
 Patients without 2ry sexual characteristics
Defects in hypothalamus
Defects in Pituitary gland
Defects in ovary
Patients with heterosexual development (more
androgen)

4. Patient with 2ry sexual characteristics
1.Outflow tract obstruction
- eg:-Imperforated hymen ( bulging hymnal membrane) , transvaginal septum ( blind ended
thick septum)
-Crypnomenorrhea
- Periodic lower abdominal pain
- Urinary problems - Urine retention due to haematocolpos
2.Absent uterus and vagina
- Hx of genital tract abnormality ( mayer rokitansky kuster hauser syndrome - mullarian
agenesis)
-In absence of uterus : no periodic lower abdominal pain
-In absence of vagina : having periodic lower abdominal pain, haematometron is there.
3.XY female (Androgen insensitivity syndrome)
-Testicular feminization syndrome
- Familly hx of primary amenorrhoea or subfertility
-Scanty body hair, absent axillary, public hair, well developed breast, short blind vagina,
udescended testis
4.Resistant ovarian syndrome
Any hormonal assays done and found abnorma

5. Patient without 2ry sexual characteristics

8. Turner' syndrome
* Chromosome pattern XO.
* Incidence about three in 10 000 full-term births.
* Present with primary amenorrhoea for there are either no ovaries or
non-functioning streaks of tissue with no oogenesis.
* The vagina and uterus are present.
* Poor breast development.
* Little or no axillary and pubic hair.
* Short stature.
* Webbing of the neck.
* A wide carrying angle in the arms.
* Coarctation of the aorta.
* Congenital malformation of the kidneys may be found.

10. Congenital adrenal hyperplasia
* is inherited as a Mendelian recessive.
* Female infants are born with ambiguous genitalia.
* Vagina and uterus are present.
* Ovaries are usually polycystic in appearance and anovulatory.
* Defective production of cortisol, most commonly due to 21-
hydroxylase deficiency.
* Leads to overproduction of corticotrophic hormone and
enlargement of the adrenal cortex.
* Increased adrenal androgen production.
* The clitoris is enlarged and the labia fused.
* Teenagers often develop severe hirsutism and acne.

11. Androgen insensitive syndrome (AIS)
* Genatically males, chromosomal patten XY
* Occur doe to lack of androgen receptors (deletion on X
chromosome)
* Active breast development (hepatic oestrogen)
* Absent or scanty axillary and pubic hair
* Usually absent uterus with a very short vagina
* The gonads are testes or undifferentiated gonads and may be
intra abdominal or in the labia majora

12. Androgen insensitive syndrome (AIS)

13. Utero-vaginal Agenesis
Mayer-Rokitansky-Kuster-Hausersyndrome
* 15% of primary amenorrhea
* Normal breasts and sexual hair development & normal looking
external female genitalia
* Normal female range testosterone level
* Absent uterus and upper vagina & Normal ovaries
* Karyotype 46-XX
* 15-30% renal, skeletal and middle ear anomalies
Congenital adrenal hyperplasia (CAH)
* Chromosomal pattern XX.