ESPE Abstracts

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.

Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed medical history and physical examination of the five patients were collected, relevant laboratory and imaging examinations were carried out. At the same time, the peripheral blood of the patients and their parents was collected for genetic testing.

Results: AR gene variants were found in all five patients, and none of them were reported, namely c.401dupA (P.P135Afs23), 1350bp deletion mutation, c.2505C>G (P.Y835X), c.1747T>C (P.F583L) and c.610G>T (P.E204X)

Conclusion: Patients with ambiguous external genitalia should be alert to the possibility of AIS, and ultimately need to be confirmed by genetic testing, so as to achieve the purpose of early diagnosis and early intervention, and provide convenience for the patient's family to conduct genetic counseling.