Approach to Ambiguous genitalia

Views:
 
     
 

Presentation Description

No description available.

Comments

By: kingdomraj (41 month(s) ago)

can i please download it

Presentation Transcript

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