Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor (AR) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus. The aim of this study was to investigate the relationship between genotype and phenotype, surgical treatments, and complications of AIS patients. We retrospectively evaluated the medical records of patients who were diagnosed with AIS after genetic testing and underwent initial surgery at Beijing Children’s Hospital, Capital Medical University (Beijing, China), from August 2007 to August 2023. A total of 46 patients were included in this study. Four novel variants, p.Y572S, p.L57dup, p.L882del, and p.V888A, were identified. AR variants are concentrated in the ligand-binding domain (LBD) region (60.9%) and are predominantly missense mutations (78.3%). There was no significant difference in the phenotypes between the LBD group and the non-LBD group (P > 0.05). Nonsense or frameshift mutations may accompany more severe phenotypes or complete androgen insensitivity syndrome (CAIS; P = 0.011). For CAIS patients with inguinal hernias, we recommend that hernia ligation surgery should be performed during childhood and that gonadectomy should be considered during adolescence or postadolescence. Preoperative hormone stimulation (PHS) had a positive effect on penile growth (P = 0.0014). Compared with patients with severe hypospadias, those patients with partial androgen insensitivity syndrome (PAIS) experience fewer complications from urethroplasty. If the conditions for a one-stage operation are not adequately met, it is advisable to perform staged surgery.

Keywords: androgen insensitivity syndrome; androgen receptor; disorders of sex development; variant