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Article

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jan 2004

Costa-Santos Marivânia, Kater Claudio E, Auchus Richard J

Abstract excerpt

We performed molecular genetic analysis of 24 subjects from 19 families with 17-hydroxylase deficiency in Brazil. Of 7 novel CYP17 mutations, 2 (W406R and R362C) account for 50% and 32% of the mutant alleles, respectively. Both mutations were completely inactive when studied in COS-7 cells and yeast microsomes; however, phenotypic features varied among subjects. Some 46,XY individuals with these genotypes had...

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PMID: 14715827
DOI: 10.1210/jc.2003-031021

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