Approach to Ambiguous genitalia

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Information about Approach to Ambiguous genitalia
Science-Technology

Published on November 15, 2009

Author: samarsen

Source: authorstream.com

Approach to a baby born with Ambiguous genitalia : 6/8/2000 North Thames Regional Paedaitric Meeting 1 Approach to a baby born with Ambiguous genitalia DR. SAMARNATH SEN SHO PAEDIATRICS OLD CHURCH HOSPITAL INTRODUCTION : 6/8/2000 North Thames Regional Paedaitric Meeting 2 INTRODUCTION CONFUSING & UPSETTING FOR PARENTS CHALLENGING FOR PHYSICIANS & NURSING STAFF DIAGNOSTIC EVALUATION & MEDICAL MANAGEMENT REQUIRES EXPERTISE OF SEVERAL SPECIALISTS TYPES : 6/8/2000 North Thames Regional Paedaitric Meeting 3 TYPES FEMALE PSEUDOHERMOPHRODITISM 60- 70 % MALE PSEUDO HERMOPHRODITISM TRUE HERMOPHRODITISM 10% MIXED GONADAL DYSGENESIS PURE GONADAL DYSGENESIS DEVELOPMENT : 6/8/2000 North Thames Regional Paedaitric Meeting 4 DEVELOPMENT CHROMOSOMAL SEX DETERMINES GONADAL SEX GONADAL SEX DETERMINES PHENOTYPIC SEX MALE-TDF GENE ON Y CHROMOSOME – TESTIS – TESTOSTERONE FEMALE- OVARY - OESTROGEN FEMALE PSEUDOHERMAPHRODITISM : 6/8/2000 North Thames Regional Paedaitric Meeting 5 FEMALE PSEUDOHERMAPHRODITISM 2 OVARIES 46 XX GENOTYPE VIRILIZED/AMBIGUOUS GENITALIA NORMAL FALLOPIAN TUBES /UTERUS/VAGINA COMMENEST CAUSE- CONGENITAL ADRENAL HYPERPLASIA – INCREASED ADRENAL ANDROGENS MALE PSEUDOHERMAPHRODITISM : 6/8/2000 North Thames Regional Paedaitric Meeting 6 MALE PSEUDOHERMAPHRODITISM TESTIS 46 XX GENOTYPE SMALL PHALLUS / SEVERE HYPOSPADIAS / UNDESCENDED TESTIS ANDROGEN RECEPTER DEFECT-80% TRUE HERMAPHRODITISM : 6/8/2000 North Thames Regional Paedaitric Meeting 7 TRUE HERMAPHRODITISM 46XX OR 47XY OR MOSAIC EXTREMELY VIRILIZED OR EXTREMELY FEMINIZED THREE TYPES LATERAL -TESTIS AND OVARY OVOTESTIS AND NORMAL GONAD 2 OVOTESTIS MIXED GONADAL DYSGENESIS : 6/8/2000 North Thames Regional Paedaitric Meeting 8 MIXED GONADAL DYSGENESIS 45X/46XY MOSAIC 1 TESTIS & STREAK GONAD ON OTHER SIDE UNICORNUS UTERUS & UNILATERAL VIRILIZATION TESTIS – NO SPERM - INFERTILE PURE GONADAL DYSGENESIS : 6/8/2000 North Thames Regional Paedaitric Meeting 9 PURE GONADAL DYSGENESIS 46XX NORMAL EXTERNAL GENITALIA AT BIRTH BILATERAL STREAK GONADS PRESENT WITH AMENORRHOEA STERILE DIAGNOSIS : 6/8/2000 North Thames Regional Paedaitric Meeting 10 DIAGNOSIS HISTORY & PHYSICAL EXAMINATION INVESTIGATIONS SERUM ELECTROLYTES SERUM 17 HYDROXYPROGESTERONE URINE 17 KETOSTEROIDS CHROMOSOMAL ANALYSIS DIAGNOSIS ( CONTD ) : 6/8/2000 North Thames Regional Paedaitric Meeting 11 DIAGNOSIS ( CONTD ) ABDOMINAL AND PELVIC ULTRASOUND GENITOGRAM LAPAROSCOPY MANAGEMENT : 6/8/2000 North Thames Regional Paedaitric Meeting 12 MANAGEMENT ELECTROLYTE & ENDOCRINOLOGICAL ABNORMALITIES ASSIGNING SEX SEX STEROIDS SURGERY FEMINISISING GENITOPLASTY GONADECTOMY FOR STREAK OVARIES THANK YOU : 6/8/2000 North Thames Regional Paedaitric Meeting 13 THANK YOU

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