Primary amenorrhoea

1. PRIMARY AMENORRHOEA Prof. M.C.Bansal MBBS., MS., FICOG., MICOG. Founder Principal & Controller, Jhalawar Medical College & Hospital Jjalawar . MGMC & Hospital , sitapura ., Jaipur

2. DIFFERENTIAL DIAGNOSIS OF PRIMARY AMENORRHOEA A. Anatomic abnormalities of the genital outflow tract 1. Müllerian dysgenesis (Rokitansky–Küster–Hauser syndrome) 2. Distal genital tract obstruction a. Imperforate hymen b. Transverse vaginal septum B. Hypergonadotropic (follicle–stimulating hormone >30 mIU/mL ) hypogonadism (gonadal “failure”) 1. Gonadal dysgenesis with stigmata of Turner syndrome 2. Pure gonadal dysgenesis a. 46,XX b. 46,XY 3. Early gonadal “failure” with apparent normal ovarian development

3. C. Hypogonadotropic (luteinizing hormone and follicle–stimulating hormone <10 mIU/mL) hypogonadism 1. Constitutional delay 2. Isolated gonadotropin deficiency a. Associated with midline defects (Kallmann syndrome ) b. Independent of associated disorders c. Prader–Labhart–Willi syndrome d. Laurence–Moon–Bardet–Biedl syndrome e. Many other rare syndromes 3. Associated with multiple hormone deficiencies 4. Neoplasms of the hypothalamic–pituitary area a. Craniopharyngiomas b. Pituitary adenomas c. Other

4. 5. Infiltrative processes (Langerhans cell–type histiocytosis) 6. After irradiation of the central nervous system 7. Severe chronic illnesses with malnutrition 8. Anorexia nervosa and related disorders 9. Severe hypothalamic amenorrhea (rare) 10. Antidopaminergic and gonadotropin–releasing hormone–inhibiting drugs(especially psychotropic agents, opiates )

5. 11. Primary hypothyroidism 12. Cushing syndrome 13. Use of chemotherapeutic (especially alkylating) agents II. Asynchronous pubertal development A. Complete androgen insensitivity syndrome (testicular feminization) B. Incomplete androgen insensitivity syndrome

6. DISCUSSION

7. FSH Peripheral signals Leptin, Ghrelin HYPOTHALAMUS Central signals GABA, NPY,GLUTAMATE ANT. PITUITARY GnRH Kisspeptin-GPR54 system L H

8. FSH LH ESTRADIOL INHIBIN GRAN THE Follicular growth Mid cycle LH peak Androgen production Aromatisation of androgens OVARY

9. WHO divides patients into groups based on endogenous oestrogen production, follicle-stimulating hormone (FSH) levels, prolactin levels, and hypothalamic-pituitary dysfunction. This classification is a guide that eliminates several diagnoses based on initial information. However, further work-up is still required. Group I: low oestrogen, low FSH, and no hypothalamic-pituitary pathology, leading to a diagnosis of hypogonadotrophic hypogonadism. Group II: normal oestrogen, normal FSH, and normal prolactin, leading to a diagnosis of polycystic ovary syndrome. Group III: low oestrogen and high FSH, leading to a diagnosis of gonadal failure.

10. APPROACH TO A CASE OF PRIMARY AMENORRHOEA HISTORY & CLINICAL EXAM ASYNCHRONOUS DEVELOPMENT BREAST > PUBIC HAIR ANDROGEN INSENSITIVITY IMMATURE SECONDARY SEXUAL CHARACTERISTICS FSH , PROLACTIN MATURE SECONDARY SEXUAL CHARACTERISTICS DISTAL GENITAL TRACT OBSTRUCTION, MULLERIAN AGENESIS

11. FSH , PROLACTIN HIGH FSH LOW OR NORMAL FSH HIGH PROLACTIN KARYOTYPE NORMAL ABNORMAL 46, XX GONADAL DYSGENESIS PREMATURE OVARIAN FAILURE 45,XX OR 46,XY MOSAIC GONADAL DYSGENESIS PITUITARY FUNCTION TESTING SELLAR X-RAY NORMAL ABNORMAL CONSTITUIONAL DELAY ISOLATED GONADOTROPIN DEFICIENCY MALNUTRITION CHRONIC ILLNESS HYPOPITUITARISM CNS TUMOR CHECK T4, TSH NORMAL TSH HIGH TSH MRI OR CT HYPOTHYROIDISM

12. Thank you…