A Novel Homozygous Q334X Mutation in the <b><i>HSD3B2</i></b> Gene Causing Classic 3β-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase Deficiency

Abstract excerpt

BACKGROUND: 3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia in both sexes. The presence of peripheral type 1 3βHSD often complicates the hormonal diagnosis...

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