Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole‐exome sequencing

Abstract

This study, utilizing whole-exome sequencing (WES), reports on a previously detected disease-related variant in the androgen receptor gene AR [c.528C>A (p.Ser176Arg)] and novel candidate variants in the DHCR24, BMPR1B, NODAL, and WDR48 genes detected in the genome of a 15-month-old child diagnosed with MPH, manifested as partial androgen insensitivity syndrome (AIS). 46,XY disorder of sexual development (DSD)-or male pseudohermaphroditism according to formerly used nomenclature-is a condition defined by the presence of female-like or incompletely differentiated external genitalia in an individual with a Y chromosome. It is the most diverse type of DSD concerning to both clinical manifestations and etiology. The molecular etiology of 46,XY DSD is almost always attributed to genetic lesions that might be delineated as cytogenic alterations and gene mutations. 1 The former is usually manifested