Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.

doi:10.1210/jcem.80.8.7629224

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Article

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.

The Journal of clinical endocrinology and metabolism - 1 Aug 1995

Wilson R C, Mercado A B, Cheng K C, New M I

Abstract excerpt

Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia. We have determined the 21-hydroxylase genotype in 197 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency and assessed phenotypic characteristics based on 1) genital status...

Topics

Adrenal Hyperplasia, Congenital
Adult
Aldosterone
Alleles
Child, Preschool
Female
Genotype
Humans
Infant, Newborn
Male
Mutation
Phenotype
Regression Analysis
Steroid 21-Hydroxylase
Virilism

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