Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.

doi:10.1111/j.1365-2265.2006.02521.x

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Article

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.

Clinical endocrinology - 1 Jun 2006

Admoni Osnat, Israel Shosh, Lavi Idit, Gur Michal, Tenenbaum-Rakover Yardena

Abstract excerpt

OBJECTIVE: It has been hypothesized that carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism. In the present study, we assessed the risk for symptoms of androgen excess in carriers of CYP21 gene mutations and the effect of different mutations on phenotype. DESIGN: All subjects underwent clinical evaluation, ACTH stimulation testing, and molecular analysis of the...

Topics

17-alpha-Hydroxyprogesterone
Adolescent
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Chi-Square Distribution
Child
Child, Preschool
Female
Genetic Testing
Genotype
Heterozygote
Humans
Hydrocortisone
Hyperandrogenism
Infant, Newborn
Israel
Male
Phenotype

Source

Open in PubMed

Identifiers

PMID: 16712666
DOI: 10.1111/j.1365-2265.2006.02521.x

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