Complete androgen insensitivity syndrome: a case report and literature review.

The patient with CAIS had a 46, XY karyotype despite presenting as phenotypically female.

• The patient was 31 years old at the time of correct diagnosis.
• Karyotype analysis confirmed 46, XY chromosomal composition.
• The patient presented with female phenotype, consistent with complete androgen insensitivity syndrome.
• The condition had previously been misdiagnosed twice as inguinal hernia.

CAIS can be misdiagnosed as inguinal hernia, particularly before puberty.

• This patient was misdiagnosed twice previously with an inguinal hernia.
• The paper notes that before puberty, CAIS is easily misdiagnosed as an inguinal hernia.
• The misdiagnoses occurred prior to the correct diagnosis at age 31.
• CAIS is described as a rare disease that can be easily misdiagnosed.

A Leydig cell tumour of the right testis was found postoperatively in the CAIS patient.

• The tumour was diagnosed following bilateral gonadectomy.
• The tumour was located specifically in the right testis.
• This finding highlights the oncological risk associated with retained gonads in CAIS.
• The patient underwent bilateral gonadectomy as part of her treatment.

The treatment for this CAIS patient included bilateral gonadectomy followed by long-term hormone replacement therapy.

• Bilateral gonadectomy was performed as the surgical intervention.
• Long-term hormone replacement therapy was initiated postoperatively.
• The paper reviews current understanding of diagnosis and treatment of CAIS.
• Gonadectomy was indicated given the risk of gonadal malignancy in CAIS patients with intra-abdominal or inguinal testes.