Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency

Hong Kong Medical Journal

Volumn 16, Issue 1, 2010, Pages 59-62

  But, W M ^a   Lo, Ivan F M ^b   Shek, C C ^a   Tse, W Y ^a   Lam, Steven T S ^b  

^a QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^b DEPARTMENT OF HEALTH   (Hong Kong)

Author keywords

Abnormalities, multiple; Cytochrome P 450 enzyme system; Genitalia, female; NADPH ferrihemoprotein reductase; Steroids

Indexed keywords

AROMATASE; CYTOCHROME P450 REDUCTASE; FIBROBLAST GROWTH FACTOR 2; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA; ANTLEY BIXLER SYNDROME; ARTICLE; CASE REPORT; CHILD; COMORBIDITY; CYTOCHROME P450 REDUCTASE DEFICIENCY; DISORDERS OF STEROID METABOLISM; FEMALE; FIBROBLAST; GENE; GENITAL MALFORMATION; GONADAL DISEASE; HOMOZYGOSITY; HUMAN; HYPERTELORISM; KARYOTYPING; MATERNAL BLOOD; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PENIS; POLYMERASE CHAIN REACTION; POR GENE; SCHOOL CHILD; SKELETON MALFORMATION; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; VIRILIZATION;

ADRENOCORTICOTROPIC HORMONE; ANTLEY-BIXLER SYNDROME PHENOTYPE; CHILD; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; HUMANS; MUTATION, MISSENSE; STEROIDS; VIRILISM;

EID: 76149109785     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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