Novel mutation in cytochrome P450cl7 causes complete combined 17α-hydroxylase/17,20-lyase deficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 2, 2008, Pages 185-190

  Bhangoo, Amrit ^a   Aisenberg, Javier ^b,d   Chartoff, Amy ^b   Ten, Svetlana ^a   Wallerstein, Robert J ^b   Wolf, Robin ^b   Auchus, Richard J ^c  

^a MAIMONIDES MEDICAL CENTER   (United States)

^b HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d NONE   (United States)

Author keywords

Adrenal insufficiency; CYP17 gene; P450c17; Primary amenorrhea

Indexed keywords

CONJUGATED ESTROGEN; CORTICOTROPIN; CYTOCHROME P450C17; ESTRADIOL; GONADOTROPIN; HYDROCORTISONE; MEDROXYPROGESTERONE ACETATE;

ADRENAL INSUFFICIENCY; ADULT; AMENORRHEA; ANDROGEN METABOLISM; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORTICOTROPIN BLOOD LEVEL; DNA ISOLATION; FEMALE; GENETIC ANALYSIS; GONADOTROPIN BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERPIGMENTATION; HYPERTENSION; LOW DRUG DOSE; NONSENSE MUTATION; SEXUAL INFANTILISM; TESTOSTERONE SYNTHESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CODON, NONSENSE; DNA; FEMALE; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 41449096419     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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