Diagnosis of 5α-reductase 2 deficiency: Is measurement of dihydrotestosterone essential?

Clinical Chemistry

Volumn 59, Issue 5, 2013, Pages 798-806

  Chan, Angel On Kei ^a   But, Betty Wai Man ^b   Lee, Ching Yin ^c   Lam, Yuen Yu ^d   Ng, Kwok Leung ^e   Tung, Joanna Yuet Ling ^a   Kwan, Elaine Yin Wah ^f   Chan, Yuk Kit ^c   Tsui, Teresa Kam Chi ^g   Lam, Almen Lai Na ^e   Tse, Wing Yee ^b   Cheung, Pik To ^a   Shek, Chi Chung ^b  

^a QUEEN MARY HOSPITAL   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^c Caritas Medical Centre Hong Kong   (Hong Kong)

^d KWONG WAH HOSPITAL   (Hong Kong)

^e UNITED CHRISTIAN HOSPITAL   (Hong Kong)

^f PAMELA YOUDE NETHERSOLE EASTERN HOSPITAL   (Hong Kong)

^g CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTANOLONE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PROCEDURES; HUMAN; INFANT; MALE; MASS FRAGMENTOGRAPHY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; SRD5A2 GENE; STEROID 5ALPHA REDUCTASE 2 DEFICIENCY; URINARY STEROID PROFILING;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; ALGORITHMS; CHILD; CHILD, PRESCHOOL; DIHYDROTESTOSTERONE; DNA MUTATIONAL ANALYSIS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84876911993     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2012.196501     Document Type: Article

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