Complete androgen insensitivity syndrome: a case report and literature review

Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia. This case report describes a 31-year-old phenotypically female patient with CAIS who was misdiagnosed twice previously with an inguinal hernia. Her karyotype analysis showed that she was 46, XY. She underwent a bilateral gonadectomy and long-term hormone replacement therapy. A Leydig cell tumour of the right testis was diagnosed postoperatively. This report also reviews the current understanding of the diagnosis and treatment of CAIS.

Automated summary

This case report presents a 31-year-old patient with complete androgen insensitivity syndrome (CAIS) who was misdiagnosed as an inguinal hernia twice before. The patient underwent bilateral gonadectomy and hormone replacement therapy, and a Leydig cell tumor of the right testis was discovered postoperatively. The report also reviews the current understanding of the diagnosis and treatment of CAIS.