Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD

Abstract

In individuals with predominantly female phenotype and suspected 5alpha-reductase deficiency, a T/DHT ratio during the neonatal period >8.5 might point to 5alpha-reductase deficiency. After confirmation of the diagnosis by molecular analysis of the SRD5A2 gene, a satisfactory change to a male phenotype can be achieved by hormone treatment preceding surgery.