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Article

A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype.

Molecular genetics and metabolism - 1 Nov 2000

Speiser P W, Knochenhauer E S, Dewailly D, Fruzzetti F, Marcondes J A, Azziz R

Abstract excerpt

Characteristic presentation of nonclassical adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency was compared between women carrying a severe and a mild CYP21 mutation (Group 1, N = 26) versus homozygotes for mild mutations (Group 2, N = 8). The diagnosis was based on elevated ACTH-stimulated 17OH-progesterone (17OHP). Genotyping for 10 mutations was performed by PCR-based techniques. Jewish patients...

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Identifiers

PMID: 11073721
DOI: 10.1006/mgme.2000.3036

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