Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

The document described a case of a 17-year-old female patient with a 46,XY karyotype and complete androgen insensitivity syndrome (CAIS) caused by a novel de novo c.1669_1670insC insertion in the androgen receptor (AR) gene. This mutation led to a premature stop codon, resulting in a truncated, nonfunctional AR protein. The patient exhibited normal female external genitalia, primary amenorrhea, and absence of internal female genitalia. Hormonal analysis showed elevated testosterone and luteinizing hormone levels. The diagnosis was confirmed through genetic testing, and a gonadectomy revealed testicular tissues with only Sertoli cells. This case provided additional molecular and clinical insights into AIS, highlighting the importance of genetic counseling and the identification of mutational hot spots in the AR gene.