EVALUATION AND MANAGEMENT OF AMENORRHEA Mazen Freij, MBBS MRCOG Assistant Professor at JUH Know the definition of Amenorrhea and Oligomenorrhea Understand the endocrine, genetic and anatomical basis for these disorders Primary amenorrhea No menses by age 14, absence of 2º sexual characteristics. No menses by age 16 , presence of 2º sexual characteristics. Secondary amenorrhea No menses for 3 months if previous menses were regular. No menses for 6 months if previous menses were irregular Oligomenorrhea Interval of more than 35 days between periods Neural control Dopamine (-) Chemical control Norepiniphrine (+) Endorphines (-) Hypothalamus ± Gn-RH Ant. pituitary ? – FSH, LH Estrogen Ovaries Uterus Menses Progesterone AMENORRHOEA AN APPROACH FOR DIAGNOSIS • • • • HISTORY PHYSICAL EXAMINATION BLOOD TESTS ULTRASOUND EXAMINATION Exclude Pregnancy Exclude Cryptomenorrhea Cryptomenorrhea Outflow obstruction to menstrual blood - Imperforate hymen - Transverse Vaginal septum with functioning uterus - Isolated Vaginal agenesis with functioning uterus - Isolated Cervical agenesis with functioning uterus Imperforated hymen FSH Serum level Low / normal Hypogonadotropic hypogonadim High Gonadal dysgenesis - FSH, LH, Prolactin, TSH - Provera 10 mg PO daily x 5 days Prolactin TSH + Bleeding No bleeing - Mild hypothalamic dysfunction - PCO (LH/FSH) Further Work-up (Endocrinologist) Review FSH result And history (next slide) Amenorrhea Utero-vaginal absence Karyotype 46-XY 46-XX Andogen Insenitivity (TSF syndrome) Rokitansky syndrome) Normal breasts & absent sexual hair Normal breasts & sexual hair Amenorrhea PRIMARY AMENORRHEA SECONDARY AMENORRHEA . Ovarian failure . Hypogonadotrophic Hypogonadism. . PCOS . Congenital lesions (other than dysgenesis) . Hypopituitarism Hyperprolactinaemia . Weight related . Polycystic ovary syndrome . Premature ovarian failure . Weight related amenorrhoea . Hyperprolactinaemia . Exercise related amenorrhoea . Hypopituitarism Classic turner’s syndrome (45XO) - Turner variants (45XO/46XX),(46X-abnormal X) - Mixed gonadal dygenesis (45XO/46XY) • 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 Turner’s syndrome (Classic 45-XO) Mosaic (46-XX / 45-XO) Ovarian dysgenesis Normal hight Normal external and internal genital organs (infantile) Low FSH and LH 30-40% anosmia (kallmann’s syndrome) Treat with HRT • delayed bone age ( X-ray Wrist joint) • Positive family history • Diagnosis by exclusion and follow up 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) Second most common cause of Primary amenorrhea. Normal breasts and Sexual Hair Normal looking external female genitalia Karyotype 46-XX 15-30% renal abnormalities. Treatment : Vaginal creation (Dilatation VS Vaginoplasty) Normal breasts but no sexual hair Normal looking female external genitalia Absent uterus and upper vagina Karyotype 46, XY Male range testosterone level Treatment : gonadectomy after puberty + HRT Endocrine causes. Genetic causes. Anatomic causes. 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 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 A. Turner Syndrome B. CAH C. Rokitansky Syndrome D. Imperforsted Hymen E. PCOS A. Imperforated hymen. B. Turner Syndrome C. Androgen insensitivity. D. Rokitansky syndrome E. Hypogonadotropic hypogonadism What is the definition of Primary Amenorrhea? 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.Hypogonadotropic Hupogonadism