Late diagnosis of androgen insensitivitysyndrome in an adult female phenotypepatient with a hemizygous c.2391G>Ap.(Trp797Ter) variant

Abstract

Disorders of Sex Development (DSD) are congenital conditions that affect
chromosomal, gonadal, or phenotypic sexual development. One of the most common DSDs is Androgen Insensitivity Syndrome (AIS), with a prevalence of 1:60,000 live births. It is characterized by female-appearing external genitalia, absence of the uterus and ovaries, and the presence of intra-abdominal testes in individuals with a 46,XY karyotype. We present the case of a 29-year-old woman with an initial diagnosis of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, which was later confirmed as AIS by genetic sequencing. Prophylactic gonadectomy was performed to prevent malignancy. This case highlights the importance of timely diagnosis to prevent complications such as gonadal tumors and psychological problems related to gender identity. Early intervention and proper management are essential for the physical, sexual, and emotional well-being of patients with AIS.