Amenorrhea refers to the absence of menstrual periods. It can be classified based on cause, onset, and presence of secondary sexual characteristics. Primary amenorrhea is the absence of periods by age 16, secondary amenorrhea is the cessation of periods after they have started. Causes include anatomical issues, endocrine disorders, and genetic conditions. Evaluation involves history, exam, hormone levels, imaging, and genetic testing to determine the underlying cause and guide treatment.

6. Amenorrhea is only a manifestation of the problem. Problem may be endocrinologic or embryologic: +/- secondary sexual characteristics +/- female internal genitalia

10. Endocrinological Four Sub phenotypes (Breast & uterus ) 1. A bsent breast + presence of uterus 2. Presence breast + absence uterus 3. Absence breast + absence uterus 4 . Presence breast + presence uterus

11. FSH Serum level Low / normal High Hypogonadotropic hypogonadim (hypothalamic- pituitry) Hypergonadotropic Hypogonadism (gonadal dysgenesis)

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

16. Karyotype 46- XX Mullerian Agenesis (MRKH syndrome) Andogen Insenitivity (TSF syndrome) 46- XY Normal breasts & sexual hair Normal breasts & absent sexual hair 2. Presence breast + absence uterus

19. 3. absence breast + absence uterus *17, 20 desmolase deficiency * 17 a hydroxylase deficiency 46xy *Agonadism Very rare

20. PREGESTERONE BLEEDING NO BLEEDING CHRONIC ANOVULATION e.g PCOS COMBINED OESTROGEN & PROGESTERONE BLEEDING NO BLEEDING OVARIAN FAILURE ( Non dysgenetic) SERUM FSH UTERINE FACTOR ( Ashermann syndrome)

22. Imperforate hymen

24. Imperforate hymen Hymenotomy or curiciate incision

33. History and physical examination completed for a patient with primary amenorrhea Secondary sexual characteristics present No Yes Measure FSH and LH levels Uterus absent or abnormal Uterus present or normal Karyotype analysis Outflow obstruction FSH and LH < 5 IU/ L Hypogonadotropic hypogonadism Hypergonadotropic hypogonadism Karyotype analysis 46, XY 46, XX No Yes Evaluate for secondary amenorrhea Imperforate hymen or transverse vaginal septum Perform ultrasonography of uterus Evaluation of Primary Amenorrhea FSH > 20 IU/ L and LH > 40 IU/ L Karyotype analysis CNS; HP Disorder Gonadal Failure Mullerian Agenesis Androgen Sensitivity Syndrome

34. Thank you