Baoan Lin

A novel HSD3B2 variant of uncertain significance (c.64_66del, p.Leu22del) in a female infant with 3β-hydroxysteroid dehydrogenase deficiency presenting with completely normal external genitalia: a case report

Abstract Background 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH), typically presenting with salt-wasting and, in females, ambiguous genitalia, or undervirilization in males. Case presentation We report the case of a 10...