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Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

4 Feb 2019

Abstract excerpt

PURPOSE: 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH. The aim was to review the literature. METHODS: PubMed was searched for relevant articles. RESULTS: 3βHSD2D is caused by HSD3B2 gene mutations and characterized by impaired steroid synthesis in the gonads and the adrenal glands and subsequent...

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PMID: 30719691
DOI: 10.1007/s12020-018-01835-3

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