Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic

European Journal of Endocrinology

Volumn 164, Issue 6, 2011, Pages 1019-1025

  Berra, Marta ^a   Williams, Emma L ^a   Muroni, Barbara ^a   Creighton, Sarah M ^a   Honour, John W ^a   Rumsby, Gill ^a   Conway, Gerard S ^a  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTERONE; ETIOCHOLANOLONE; STEROID 5ALPHA REDUCTASE 2; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; 5 ALPHA TETRAHYDROCORTISOL; 5 ALPHA TETRAHYDROCORTISONE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEX DIFFERENTIATION DISORDER; SRD5A2 GENE; STEROID 5ALPHA REDUCTASE 2 DEFICIENCY; VIRILIZATION; FEMALE SEXUAL DYSFUNCTION; GENE FREQUENCY; GENETIC IDENTIFICATION; MUTATIONAL ANALYSIS; MUTATOR GENE; PHENOTYPE; SENSITIVITY ANALYSIS; STEROID 5ALPHA REDUCTASE 2 GENE; STEROID URINE LEVEL;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; ADULT; DNA; FEMALE; GENITAL DISEASES, FEMALE; HUMANS; HYPOSPADIAS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PUBERTY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STEROIDS; UTERUS; VIRILISM; YOUNG ADULT;

EID: 79957767768     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0930     Document Type: Article

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