Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism

Asian Journal of Andrology

Volumn 10, Issue 5, 2008, Pages 815-818

  Eunice, Marumudi ^a   Philibert, Pascal ^b   Kulshreshtha, Bindu ^a   Audran, Françoise ^b   Paris, Françoise ^b   Khurana, Madan L ^a   Pulikkanath, Praveen E ^a   Kucheria, Kiran ^a   Sultan, Charles ^b   Ammini, Ariachery C ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

5 RD 2 deficiency; Dihydrotestosterone; Male pseudohermaphroditism; Perineoscrotal hypospadias; SRD5A2 gene mutation

Indexed keywords

ARGININE; GLUTAMINE; STEROID 5ALPHA REDUCTASE 2; ANDROSTANOLONE; FOLLITROPIN; LUTEINIZING HORMONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; EXON; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HORMONE BLOOD LEVEL; HUMAN; HYPOSPADIAS; INDIA; INDIAN; INGUINAL CANAL; INTERVIEW; KARYOTYPE; MALE; MALE PSEUDOHERMAPHRODITISM; POLYMERASE CHAIN REACTION; RADIOIMMUNOASSAY; SCROTUM; SEQUENCE ANALYSIS; SEX DETERMINATION; TESTIS; BLOOD; CONGENITAL MALFORMATION; FAMILY HEALTH; GENETICS; MALE GENITAL SYSTEM; MISSENSE MUTATION; PATHOLOGY; PSEUDOHERMAPHRODITISM;

CHILD; DIHYDROTESTOSTERONE; FAMILY HEALTH; FOLLICLE STIMULATING HORMONE; FOUNDER EFFECT; GENITALIA, MALE; HUMANS; HYPOSPADIAS; INDIA; LUTEINIZING HORMONE; MALE; MUTATION, MISSENSE; PSEUDOHERMAPHRODITISM; TESTOSTERONE; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 50149085738     PISSN: 1008682X     EISSN: 17457262     Source Type: Journal    
DOI: 10.1111/j.1745-7262.2008.00350.x     Document Type: Article

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