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A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.

Authors
  • Jeandron, Debra D
  • Sahakitrungruang, Taninee
Type
Published Article
Journal
Hormone Research in Paediatrics
Publisher
S. Karger AG
Publication Date
Jan 01, 2012
Volume
77
Issue
5
Pages
334–338
Identifiers
DOI: 10.1159/000336004
PMID: 22343390
Source
Medline
License
Unknown

Abstract

We report a novel mutation of the HSD3B2 gene, Q334X, responsible for a classic 3βHSD deficiency. The clinical and hormonal phenotypes can be complicated in this disorder, and this supports the benefits of 17OHP newborn screening to detect various forms of congenital adrenal hyperplasia.

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