PRIMARY AMENORRHEA case discussion case.pptx

Primary amenorrhea

1. PRIMARY AMENORRHEA

2. Primary amenorrhea is defined as the failure to reach menarche. Evaluation should be undertaken if there is no pubertal development by 13 years of age, if menarche has not occurred five years after initial breast development, or if the patient is 15 years or older . Secondary amenorrhea is characterized as the cessation of previously regular menses for three months or previously irregular menses for six months. In contrast, a normal menstrual cycle typically occurs every 21 to 35 days.2

3. CASE 1

4. History A 19 year old unmarried female came with c/o no menstrual cycles with h/o of previous PV spotting . Not a/w cyclical abdominal pain. Not a/w breast tenderness, mood changes. Not a/w weight gain,cold intolerance,lack of interest. Not a/w abdominal distention . No h/o involuntary jerky movements,hearing loss or loss of smell sensation. Not a/w excessive thirst, excessive urination or weight loss & loss of appetite.

5. No prolonged h/o fever, cough, sputum production prolonged loose stools. No h/o chest pain,palpitations, Breathlessness, Repeated bluish discolouration of toes or fingers Birth history: 1 st birth order, 2 nd degree consanguineous marriage, FTNVD Birth wt- 2.5kg , no perinatal complications

6. Developmental history: Milestones appropriate for age Family history:Born out if 2 nd degree consanguineous marriage,2 nd out of 2 siblings,Mother attained menarche @ 16yrs

7. T anner staging Breast:stage 5 Anillary hair: well developed coarse pubic hair: grade 5(spread to medial thigh) Vaginal openings:1 No clitoriomegaly. No bluish bulge present. On examination: Vitals stable height 149cms, weight 40kg BMI:18.01 Systemic examination is unremarkable

8. INVESTIGATIONS Hb 12.7 TLC 6830 PLT 2.3 CREAT 0.8 SGOT/SGPT 26/37 Na/K 137/4.2 FSH 5.69 LH 15.7 TSH 3.4 TESTO 0.340 PRL 12.8 FBS & INSULIN 93/6 USG pelvis: uterus size-59x29x45 mm ovaries –Right(29x15mm)polycystic left(24x18mm) ET-4mm What Next..???

9. E2 levels- done E2- 150.45 pg/ml(16-28), (follicular cut off- 19.5-144.2)

10. Differential diagnosis Constitutional delay of growth Polycystic ovarian syndrome

11. CASE 2

12. History A 18 year old unmarried female came with c/o no menstrual cycles with no h/o of previous PV spotting . Also has c/o white discharge since 1year non foul smelling,mucoid consistency,not a/w itching,not a/w burning micturition Not a/w cyclical abdominal pain. Not a/w breast tenderness, mood changes. Not a/w abdominal distention . No h/o involuntary jerky movements,hearing loss or loss of smell sensation. Not a/w excessive thirst, excessive urination or weight loss & loss of appetite.

13. Not a/w weight gain,cold intolerance,lack of interest . No prolonged h/o fever, cough, sputum production prolonged loose stools. No h/o chest pain,palpitations, Breathlessness, Repeated bluish discolouration of toes or fingers Birth history: 1 st birth order, 2 nd degree consanguineous marriage, FTNVD Birth wt- 3 kg , no perinatal complications

14. Developmental history: Milestones appropriate for age Family history:Born out if 2 nd degree consanguineous marriage,1 st out of 2 siblings,Mother attained menarche @ 14yrs

15. T anner staging Breast:stage 4 (EARLIER B1) Axillary hair: minimal and coarse pubic hair: stage 4( not spread to medial thigh) Vaginal openings:1 No clitoriomegaly. No bluish bulge present. On examination: Vitals stable height 154cms, weight 37kg BMI:15.6 Systemic examination is unremarkable

16. INVESTIGATIONS Hb 11.3 TLC 5800 PLT 23.4 CREAT 0.5 SGOT/SGPT 18/15 Na/K 137/4.2 FSH 146.3 LH 50.58 TSH 0.53 ESTRADIOL 5.3 PRL 12.8 TESTO 0.34 Karyotype 46XX USG ABDOMEN:Small uterus-prepubertal status. MRI pelvis- hypolastic uterus & ovaries.

17. Differential diagnosis Turner’s syndrome/Sweyer’s syndrome Gonadal dysgenesis

18. Amenorrhea:Amenorrhea is a normal state prior to puberty, during pregnancy and lactation, and following menopause. Primary Amenorrhea:refers to the failure of onset of menstruation beyond the age of 16 years regardless of development of secondary sexual characters.

19. Cryptomenorrhea : Patient menstruates but fails to come out Causes : Imperforate hymen ( m/c cause) cause ). Transverse vaginal septum (mcc of hematometra) Vaginal atresia. On examination External genitalia: Female . Internal genitalia: Female, uterus bulky (hematometra, hematocolpos ). Breast : Normal, Tanner stage 4 or 5 .

20. Pubic hair: Tanner I or 2 Local examination : Tense bulging hymen, cough impulse present:Imperforate hymen (Rx : Cruciate incision at hymen ) Hymen not bulging, cough impulse absent: Transverse vaginal septum No vaginal opening: Vaginal atresia Investigations FSH, LH, estrogen: Normal Best way to distinguish transverse vaginal septum* imperforate hymen : MRI

21. Kallmann's Syndrome: Defect: GnRH neurons fail to migrate to hypothalamus m/c in males, males can present with primary infertility m/c gene : KAL-I gene In females: Primary amenorrhea, infertility. Breast : Absent, Tanner stage I or 2. Pubic and axillary hair: Absent. uterus : Present but hypoplastic/ infantile .

22. LH and FSH: Decreased Estrogen Decreased Associated Feature: Hyposmia/Anosmia Stature: Normal

23. Gonadal dysgenesis: Female phenotype. Non-functional gonads . Estrogen and Testosterone decreased LH and FSH increased (Hypergonadotropic hypogonadism ). Breast Absent . uterus : Present but hypoplastic

24. TURNERS SYNDROME Associated features of Turner's syndrome : webbing of neck Low posterior hair line. Shield shaped chest. widely spaced nipples Sensory neural hearing loss (SNHL) - Perform audiometry* Autoimmune diseases: Diabetes (cec, FBS, lipid profile)/ Hashimoto thyroiditis(TSH, T4)/ celiac disease (anti-endomysial Ab ).

25. Cubitus Valgus. Heart disease (do ECHO) - m/c: Bicuspid Aortic valve > Coarctation of aorta· Horse shoe kidney (do renal usg). Mosaic turner: 45 XO/45 XX/ 45 XV (increased chances of malignancy).

26. Mullerian agenesis(mayer rokitonsky kuster hauser/mrkh syndrome) Karyotyping:46XX Both mullerian ducts fail to grow Gonads- normal ovaries Breast development- normal, tanner stage 4/5 Pubic and axillary hair- present LH- normal FSH – normal Testosterone – normal corresponding to female levels

27. Androgen insensitivity syndrome (testicular feminizing syndrome) Karyotype- 46 XY Gonads- testis undescended Breast- tanner stage 4/5 Pubic and axillary hair- absent LH- increased FSH- normal Testosterone- increased.