Carriers for type II 3β-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test

Clinical Endocrinology

Volumn 58, Issue 3, 2003, Pages 323-331

  Pang, Songya ^a,e   Carbunaru, Goldy ^a   Haider, Anzar ^b   Copeland, Kenneth C ^c   Tai Chang, Ying ^a   Lutfallah, Chantal ^a   Mason, J Ian ^d  

^a UNIVERSITY OF ILLINOIS   (United States)

^b Children's Hospital Medical Center of Akron   (United States)

^c Children's Hospital Oklahoma City   (United States)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

17 HYDROXYPREGNENOLONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; 3BETA HYDROXYSTEROID DEHDROGENASE TYPE II; CORTICOTROPIN; DIMER; HYDROCORTISONE; HYDROXYPROGESTERONE; PRASTERONE; STEROID 21 MONOOXYGENASE; TETRACOSACTIDE; UNCLASSIFIED DRUG;

3BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY; ADRENAL FUNCTION; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN TEST; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME STABILITY; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HAPLOIDY; HETEROZYGOTE; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HUMAN; IN VIVO STUDY; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; STATISTICAL SIGNIFICANCE; WILD TYPE;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; ADULT; BIOLOGICAL MARKERS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; STEROID 21-HYDROXYLASE;

EID: 0037337908     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.01716.x     Document Type: Article

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