Abstract:

Complete androgen insensitivity syndrome (CAIS) is a disorder of sex development. Patients with CAIS have male-characteristic genetic materials, hormone levels, and gonads. However, due to abnormalities in the androgen receptors (AR), androgens cannot exert their biological effects, ultimately leading to a female phenotype in patients. Whole exome sequencing (WES) technology was used to analyze the genetic etiology of 4 patients highly suspected of having CAIS. The results indicated that all of them had mutations in the AR (NM_000044.6) gene. In case 1, there was a c.2401del:p.T801Pfs*8 variant in the AR gene. In case 2, a c.2494C>T p.Arg832* stop_gained variant. In case 3, a c.1581G>A p.Trp527* stop_gained variant, and in case 4, a c.57C>A p.Tyr19* stop _gained variant. All of these variants were evaluated as pathogenic and were the main causes of CAIS. Among them, the AR gene mutations in cases 1, case 3 and case 4 had not been previously reported, and the AR gene mutation in case 2 had only been reported in one case. Using WES technology to detect the genetic etiology of CAIS can quickly, efficiently and accurately identify the pathogenic cause, thereby enabling a definite diagnosis and targeted treatment.

Key words: Androgen-insensitivity syndrome, Receptors, androgen, Disorders of sex development, Whole exome sequencing, Diagnosis, Complete androgen insensitivity syndrome