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

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

Definitions 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

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

AN APPROACH FOR DIAGNOSIS 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

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

Amenorrhea and normal breast development. - 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 Andogen Insenitivity (TSF syndrome) Karyotype 46-XY 46-XX Andogen Insenitivity (TSF syndrome) Rokitansky syndrome) Normal breasts & absent sexual hair Normal breasts & sexual hair

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

Gonadal dysgeneis Classic turner’s syndrome (45XO) - Turner variants (45XO/46XX),(46X-abnormal X) - Mixed gonadal dygenesis (45XO/46XY)

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

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

Ovarian dysgenesis

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

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

Weight-related amenorrhoea Anorexia 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)

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 Karyotype 46-XX 15-30% renal abnormalities. Treatment : Vaginal creation (Dilatation VS Vaginoplasty)

Androgen insensitivity Testicular feminization syndrome 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

Amenorrhea Endocrine causes. Genetic causes. Anatomic causes.

TEST

A. History of leukemia during infancy B. Short stature 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

B. Estradiol of 100 pg/ml (normal 40–410) 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

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

C. Androgen insensitivity. D. Rokitansky syndrome One of the following can be the cause for primary amenorrhea with normal secondary sexual development. 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

Thank You