Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development

Abstract

Disorders of sex development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. There are many genes associated with DSD, and one of them is the androgen receptor (AR) gene, which plays a pivotal role in normal sex development. Studies reported numerous genetic variations in the AR gene that lead to 46, XY DSD, including androgen insensitivity syndrome and hypospadias. Identifying and understanding the genetic causes of DSD will aid the healthcare providers design a tailored-made management for DSD patients and optimise patients’ quality of life. This narrative review will explore the significance of the AR gene in DSD while discussing DSD in general.

Keywords

• androgen receptor
• disorders of sex development
• genetics