1. PROF.DR.G.SUNDARAMURTHY’S UNIT BHARGAVI.K.

18. DISORDERS OF SEX AND DEVELOPMENT 46 XX OVOTESTICULAR 46 XY CAH

28. USG PELVIS

31. COARSE VOICE, PRIMARY AMENNORRHOEA HORMONE PROFILE TESTOSTERONE,LH USG PELVIS ABSENT UTERUS,OVARIES BIOPSY OF INGUINAL STRUCTURES-TESTIS

36. PARTIAL AIS COMPLETE AIS Broad spectrum from absent or male Absent Wolfian duct Absent Absent Müllerian duct derivatives Broad spectrum from female with mild clitoromegaly to male with micropenis and/or hypospadias Female External genitalia X-linked recessive X-linked recessive Inheritance

37. Mutations in AR gene Mutations or deletions in androgen receptor gene Molecular defect High or normal serum LH and T levels, normal or slightly elevated FSH levels High or normal serum LH and T levels, normal or slightly elevated FSH levels Hormonal diagnosis Gynecomastia Gynecomastia Puberty Ectopic, inguinal or intraabdominal, Inguinal or intraabdominal, Testes

42. PRIMARY AMENNORRHOEA WITH DELAYED PUBERTY BONE AGE- CONSTITUTIONAL DELAY THYROID PROFILE LH, FSH, PROLACTIN INCREASED LH,FSH NORMAL LH,FSH

43. INCREASED LH,FSH KARYOTYPING 45 X ( turner’s) 46 XX (pure gonadal dysgenesis) 46 XY (swyer’s)

44. NORMAL LH, FSH PROLACTIN HIGH IMAGING MRI ABNORMAL- PITUITARY CAUSES NORMAL MRI EATING DISORDERS STRESS

45. AMENNORHOEA WITH NORMAL PUBERTY ULTRA SONOGRAM UTERUS PRESENT HYPOTHYROIDISM HYPERPROLACTINEMIA FSH LEVELS LOW- MRI HIGH FSH- PREMATURE OVARIAN FAILURE

46. GENITAL TRACT ABNORMALITIES ULTRA SONOGRA m ABSENT UTERUS FORESHORTENED VAGINA KARYOTYP e 46 XX MULLERIAN AGENESIS- ROKITANSKY 46 XY TESTOSTERONE HIGH LOW ANDROGEN INSENSITIVITY OR 5 A RED DEFICIENCY TESTICULAR REGRESSION

47. CAH 21 OH DEFICIENCY MASCULINISATION SALT WASTING INCREASED 17 OH P 11 OH DEFICIENCY INCREASED DOC SALT RETENTION HYPERTENSION 3 B HSD DEFICIENCY LESS VIRILIZ, SALT LOSING ^DHEA ONLY FORM CAUSING AMB. GENIT IN MALES

49. 46 XY DSD ISOLATED DEFICIENCY OF MIS PHENOTYPIC MALE WITH AN INGUINAL HERNIA ON ONE SIDE AND AN IMPALPABLE CONTRALATERAL GONAD DEFICIENT TESTOSTERONE BIOSYNTHESIS ENZYME DEFECTS OR LEYDIG CELL DEFECTS 5 ALPHA REDUCTASE DEFICIENCY EXTREME VIRILISATION AT PUBERTY HIGH T/DHT RATIO PARTIAL GONADAL DYSGENESIS 46 XY OR MOSAICISM ONE GONAD IS DYSGENETIC PURE GONADAL DYSGENESIS B/L STREAK GONADS AIS

58. TESTIS GONADS ABSENT OR VESTIGIAL MULLERIAN DUCT DERIVATIVES: USUALLY ABSENT WOLFIAN DUCT DERIVATIVES : FEMALE WITH BLIND VAGINALPOUCH GENITALIA X-LINKED RECESSIVE,MUTATIONS IN AR GENE INHERITANCE 46 XY KARYOTYPE

59. INCREASED PLASMA LH AND TESTOSTERONE CONCENTRATION,INCREASED ESTRADIOL, FSH LEVELS OFTEN NORMAL RESISTANCE TO ANDROGENIC N METABOLIC EFFECTS OF TESTOSTERONE HORMONE AND METABOLIC PROFILE: GENETIC HETEROGENEITY: RECEPTOR NEGATIVE, UNSTABLE OR RECEPTOR POSITIVE FORM ANDROGEN RECEPTOR STUDIES ABSENT PUBIC AND AXILLARY HAIR,BREAST DEVELOPMENT AND FEMALE HABITUS AT PUBERTY, PRIMARY AMENNORHOEA”HAIRLESS WOMEN” HABITUS:

61. TESTIS- USUALLY UNDESCENDED GONADS ABSENT MULLERIAN DUCT DERIVATIVES: RUDIMENTARY-HYPOPLASTIC-NORMAL WOLFIAN DUCT DERIVATIVES : AMBIGUOUS WITH BLIND VAGINAL POUCH-PERINEOSCROTAL OR PENILE HYPOSPADIAS, ASMALL VAGINAL POUCH, A HOODED PHALLUS, UNFUSED PREPUTIAL FOLDS, BIFID SCROTUM, OCCASIONALLY GONADS. GENITALIA X-LINKED RECESSIVE,MUTATIONS IN AR GENE INHERITANCE 46 XY KARYOTYPE

62. genetic heterogeneity, partial deficiency of normal receptor, mutations lead to qualitatively abnormal receptor. ANDROGEN RECEPTOR STUDIES increased plasma lh n testosterone, increased estradiol, fsh levels normal or slightly increased Partial resistance to androgenic and metabolic effects of testosterone HORMONE AND METABOLIC PROFILE: decreased to normal axillary and pubic hair, beard growth and body hair, gynaecomastia HABITUS:

68. THANK YOU