EVALUATION AND MANAGEMENT OF AMENORRHEA Mazen Freij , MBBS MRCOG Assistant Professor at JUH

1. EVALUATION AND MANAGEMENT OF AMENORRHEA MazenFreij, MBBS MRCOG Assistant Professor at JUH

2. Objectives • Know the definition of Amenorrhea and Oligomenorrhea • Understand the endocrine, genetic and anatomical basis for these disorders

3. Definitions • Primary amenorrhea • No menses by age 14, absence of 2º sexual characteristics. • No menses by age 16 , presence of 2º sexual characteristics.

4. Secondary amenorrhea No menses for 3 months  if previous menses were regular. No menses for 6 months  if previous menses were irregular

5. Oligomenorrhea • Interval of more than 35 days between periods

6. Neural control Chemical control Dopamine (-) Norepiniphrine (+) Endorphines (-) Hypothalamus Gn-RH ? ± – Ant. pituitary FSH, LH Ovaries Estrogen Progesterone Uterus Menses

7. AMENORRHOEA AN APPROACH FOR DIAGNOSIS • HISTORY • PHYSICAL EXAMINATION • BLOOD TESTS • ULTRASOUND EXAMINATION Exclude Pregnancy Exclude Cryptomenorrhea

8. Cryptomenorrhea • Outflow obstruction to menstrual blood • -Imperforate hymen • - Transverse Vaginal septum with functioning uterus • - Isolated Vaginal agenesis with functioning uterus • - Isolated Cervical agenesiswith functioning uterus

9. Imperforated hymen

10. Amenorrhea and no breast development. FSH Serum level Low / normal High Hypogonadotropic hypogonadim Gonadal dysgenesis

11. Amenorrhea and normal breast development. • - FSH, LH, Prolactin, TSH • Provera 10 mg PO daily • x 5 days + Bleeding No bleeing Prolactin TSH - Mild hypothalamic dysfunction - PCO (LH/FSH) Further Work-up (Endocrinologist) Review FSH result And history (next slide)

12. Amenorrhea Utero-vaginal absence Karyotype 46-XY 46-XX AndogenInsenitivity (TSF syndrome) Rokitanskysyndrome) Normal breasts & absent sexual hair Normal breasts & sexual hair

13. Amenorrhea • PRIMARY AMENORRHEA • . Ovarian failure • . Hypogonadotrophic • Hypogonadism. • . PCOS • . Congenital lesions • (other than dysgenesis) • . HypopituitarismHyperprolactinaemia • . Weight related • SECONDARY AMENORRHEA • . Polycystic ovary syndrome • . Premature ovarian failure • . Weight related amenorrhoea • . Hyperprolactinaemia • . Exercise related amenorrhoea • . Hypopituitarism

14. Gonadaldysgeneis • Classic turner’s syndrome (45XO) - Turner variants (45XO/46XX),(46X-abnormal X) - Mixed gonadaldygenesis (45XO/46XY)

15. Turner’s syndrome •Sexual infantilism and short stature. • Associated abnormalities, webbed neck,coarctation of the aorta,high-arched pallate, cubitus valgus, broad shield-like chest with wildely spaced nipples, low hairline on the neck, short metacarpal bones and renal anomalies. • High FSH and LH levels. • Bilateral streaked gonads. • Karyotype - 80 % 45, X0 - 20% mosaic forms (46XX/45X0) • Treatment: HRT

16. Turner’s syndrome (Classic 45-XO) Mosaic (46-XX / 45-XO)

17. Ovarian dysgenesis

18. Hypogonadotrophic Hypogonadism Normal hight Normal external and internal genital organs (infantile) Low FSH and LH 30-40% anosmia (kallmann’s syndrome) Treat with HRT

19. Constitutional pubertal delay • delayed bone age ( X-ray Wrist joint) • Positive family history • Diagnosis by exclusion and follow up

20. Weight-related amenorrhoeaAnorexia Nervosa • 1o or 2o Amenorrhea is often first sign • A body mass index (BMI) <17 kg/m² menstrual irregularity and amenorrhea • Hypothalamic suppression • Low estradiol risk of osteoporosis • Treatment :  body wt. (Psychiatrist referral)

21. Utero-vaginal Agenisis Mayer-Rokitansky-Kuster-Hauser syndrome • Second most common cause of Primary amenorrhea. • Normal breasts and Sexual Hair Normal looking external female genitalia • Karyotype46-XX • 15-30% renal abnormalities. • Treatment : Vaginal creation (Dilatation VS Vaginoplasty)

22. Androgen insensitivityTesticular feminization syndrome • Normal breasts but no sexual hair • Normal looking female external genitalia • Absent uterus and upper vagina • Karyotype46, XY • Male range testosterone level • Treatment : gonadectomy after puberty + HRT

23. Amenorrhea • Endocrine causes. • Genetic causes. • Anatomic causes.

25. TEST

26. A 17-year-old girl presents to the clinic for the evaluation of primary amenorrhea.Which would be an important aspect of her clinical history? • A. History of leukemia during infancy • B. Short stature • C. History of delayed puberty in the family • D. All of the above • E. None of the above

27. After receiving Chemotherapy, which of the following labs results would make you consider the diagnosis of ovarian failure? • FSH of 60 IU/L (normal 0.33–10.54) • B. Estradiol of 100 pg/ml (normal 40–410) • C. LH of < 0.2 IU/L (normal 0.69–7.15) • D. All of the above • E. None of the above

28. The commonest cause for primary amenorrhea is • A. Turner Syndrome • B. CAH • C. Rokitansky Syndrome • D. Imperforsted Hymen • E. PCOS

29. One of the following can be the cause for primary amenorrhea with normal secondary sexualdevelopment. • A. Imperforated hymen. • B. Turner Syndrome • C. Androgen insensitivity. • D. Rokitansky syndrome • E. Hypogonadotropichypogonadism

30. What is the definition of Primary Amenorrhea?

31. 19 year old presented with primary amenorrhea, normal breast development but no pubic hair, absent uterus. The most likely diagnosis is: • A. Rokitansky syndrome • B. Turner Syndrome • C. Androgen insensitivity • D.HypogonadotropicHupogonadism

32. Thank You