Complete androgen insensitivity syndrome diagnosed after inguinal surgery in era of modern technology: a case report

Abstract

Introduction: Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive disorder of sexual development. It results from mutations in the Androgen Receptor (AR) gene located on chromosome Xq11–12. Affected individuals have a male genotype but a female phenotype. Case presentation: A 20-year-old female presented to the emergency room with a history of pain in the bilateral inguinal region. In ultrasonography (USG), bilateral inguinal hernia was suspected. While performing an emergency operation for hernia repair, hernia was revealed as bilateral abdominal testis. Then, after a gynecology consultation, a bilateral orchidectomy was done. Postoperative karyotyping showed a male genotype. Then the patient was discharged on hormone replacement therapy to maintain normal bone mineral density and secondary sexual characteristics. Discussion: AIS presents with primary amenorrhea in pubertal females. The growth spurt and secondary sexual characteristics are normal except for absent axillary and pubic hair. There is a short-blind vagina, but the uterus is absent, and the abdominal testis presents as an inguinal hernia. Serum gonadotropin level, karyotyping, and imaging studies are done to reach a diagnosis. Management includes gonadectomy, genitoplasty, and hormone replacement therapy. Conclusion: The objective of this report was to make clinicians aware that AIS can present as a bilateral inguinal hernia. In acute presentations, it can be misdiagnosed as a strangulated femoral hernia only later to be identified as an undescended abdominal testis during surgery. An absence of proper clinical judgment and reliance on USG for imaging can often lead to misdiagnosis in acute settings.