Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.

doi:10.1210/jcem.82.2.3759

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Article

Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.

The Journal of clinical endocrinology and metabolism - 1 Feb 1997

Knochenhauer E S, Cortet-Rudelli C, Cunnigham R D, Conway-Myers B A, Dewailly D, Azziz R

Abstract excerpt

A deficiency of 21-hydroxylase activity is one of the most commonly inherited genetic disorders in man, with heterozygosity for CYP21 mutations affecting approximately 1 in 60 of the non-Jewish Caucasian population. We have hypothesized that heterozygosity for CYP21 mutations in women increases t...

Topics

Adrenal Hyperplasia, Congenital
Adult
Female
Heterozygote
Humans
Hyperandrogenism
Metabolism, Inborn Errors
Mutation
Prevalence
Risk Factors
Steroid 21-Hydroxylase
Testosterone

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