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.
- Published Article
Hormone Research in Paediatrics
S. Karger AG
- Publication Date
Jan 01, 2012
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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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/22343390