A Novel HSD17B3 Gene Mutation in a 46,XY Female Phenotype Newborn Identified by Whole Exome Sequencing

Abstract

Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sexual development (DSD). Mutations in this gene in 46,XY individuals present at birth with external female phenotype or ambiguous genitalia. The diagnosis of 46,XY DSD is very challenging and not rarely is confirmed only at older ages.

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