Primary amenorrhoea

ETIOLOGY:
  • Hypothalamic (absence of gonadotrophic releasing hormone, GnRH) or hypogonadatrophic (no LH or follicle stimulating hormone, FSH).
  • This may be:
  1. Idiopathic.
  2. Following radiotherapy.
  3. Following surgery.
  4. Craniopharyngomas in childhood.
  5. Anorexia.
  6. Excessive exercise (ballet dancers).
  7. Ovarian dyshenesis
  • Chromosomal.
  • Congenital “anatomical” .
  • Amenorrhea is only a manifestation of the problem.
  • Primary amenorrhoea with anosmia is seen in Kallman syndrome
  • Problem may be endocrinologic or embryologic:
+/- secondary sexual characteristics
+/- female internal genitalia


Causes of primary amenorrhea with eugonadism:
  • Müllerian agenesis
  • Vaginal septum
  • Imperforate hymen
  • Androgen insensitivity syndrome
  • PCOS
  • Congenital adrenal hyperplasia
  • Cushing and thyroid disease
ASSOCIATED CONDITION:
  • Turner’s syndrome
  1. Chromosome pattern XO(45)
  2. Present with primary amenorrhoea for there are either no ovaries or non-functioning streaks of tissue with no oogenesis.
  3. Poor breast development
  4. Malformed uterus
  5. Little or no axillary and pubic hair.
  6. Short stature
  7. Webbing of the neck.
  8. A wide carrying angle in the arms.
  9. Wide-spaced nipples
  10. Congenital malformation of the kidneys may be found.
  • Congenital adrenal hyperplasia (CAH)
  1. Chromosomal pattern XX.
  2. Congenital adrenal hyperplasia is inherited as a Mendelian recessive.
  3. Female infants are born with ambiguous genitalia.
  4. Vagina and uterus are present.
  5. Ovaries are usually polycystic in appearance and anovulatory.
  6. Defective production of cortisol, most commonly due to 21-hydroxylase deficiency.
  7. Leads to overproduction of corticotrophic hormone and enlargement of the adrenal cortex. 
  8. Increased adrenal androgen production.
  9. The clitoris is enlarged and the labia fused.
  10. Teenagers often develop severe hirsutism and acne.
  • Androgen insensitivity syndrome: Primary amenorrhoea normal sexual development and normal breast but with absent public and axillary hair . B/L inguinal hernias , absent uterus & blind vagina
  • Testicular feminization: Primary amenorrhoea, grade V thelarche, grade II pubarche and no axillary hair
  • PCOS: Primary amenorrhoea with normal breast, hirsutism and acne. 
  • Müllerian agenesis/Utero-vaginal Agenesis/Mayer-Rokitansky-Kuster-Hauser syndrome
  1. 15% of primary amenorrhea
  2. Absent uterus and upper vagina & Normal ovaries
  3. Karyotype 46-XX
  4. 15-30% renal, skeletal and middle ear anomalies
DIAGNOSIS:
  1. Buccal smear and an examination of the polymorphonuclear leucocytes to determine if chromatin positive (probably XX) or chromatin negative (probably XO or XY); in other cases a full chromosome analysis may be needed to exclude mosaicism and AIS.
  2. Hormonal investigations should include LH, FSH,oestradiol and testosterone levels.
  3. Ultrasound will help determine the presence, state and size of the ovaries and any follicular activity.
  4. terine size can also be seen. It is rarely necessary to perform a laparoscopy to assess the pelvic organs. 
TREATMENT:
  • Turner’s syndrome should receive long term treatment with cyclical hormones, oestrogen and progestogen (hormone replacement therapy). There is a small risk of uterine carcinoma.
  • In AIS, the gonads are testes that are often found inside the abdomen or inguinal canal. 
  1. Treatment with oestrogen should also be given to augment breast development and prevent osteoporosis.
  • In cases of congenital absence of the vagina and uterus the ovaries are usually normal. An artificial vagina may be constructed to permit sexual intercourse.
  • Abnormalities of pituitary secretion should be treated with oestrogen or progesterone until fertility is desired.
Exam Question
  • 10 year old girl with primary amenorrhoea, absent breasts, malformed uterus is diagnosed with Turner's syndrome
  • The commonest cause of primary Amenorrhoea is Ovarian dysgenesis
  • Primary amenorrhoea with anosmia is seen in Kallman syndrome
  • Child with primary amenorrhoea with negative progesterone challenge test but positive com­bined progesterone and estrogen test. Diagnosis may be Prolactinoma
  • Primary amenorrhoea, grade V thelarche, grade II pubarche and no axillary hair is seen in testicular feminization
  • Androgen insensitivity syndrome: Primary amenorrhoea normal sexual development and normal breast but with absent public and axillary hair . B/L inguinal hernias , absent uterus & blind vagina
  • PCOS, Müllerian agenesis & Congenital adrenal hyperplasia are cause of primary amenorrhoea with eugonadism
  • Primary amenorrhoea with normal breast, hirsutism and acne are features of PCOS
  • Primary amenorrhoea with well developed breasts and axillary and pubic hair & missing Uterus and vagina is diagnosed to have Mullerian agenesis
  • Well-developed breasts, no hiruitism, no pubic or axillary hair with primary amenorrhea is suggestive of Complete androgen insensitivity syndrome
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