Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report

Abstract

Abstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development that results from mutations in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals. Our aim was to report this rare case of complete androgen insensitivity syndrome with Sertoli cell tumour, and our objective was to relate our experience on the challenges of the case and its successful management of the case. Case presentation We report a case of a 27-year-old married Nigerian woman who presented at the surgical outpatient of our centre with a complaint of primary amenorrhea. She had an attendant history of coital difficulty following marriage. Clinical examination revealed a female phenotype with left groin swelling. A diagnosis of complete androgen insensitivity syndrome was made following hormonal evaluation, advanced imaging studies, karyotyping, and cytogenetic study. She and her parents including her husband were duly counselled on the natural history and principles of treatment of this clinical condition. She subsequently had a bilateral orchidectomy, and she was placed on oestrogen replacement therapy as well as serial vaginal dilation. The outcome was satisfactory. Conclusion We reported a rare case of complete androgen insensitivity syndrome in a married woman. We documented our experience with successful conservative vaginal dilatation, which allowed satisfactory vaginal sexual intercourse.

Keywords

• Androgen insensitivity syndrome (AIS)
• Disorder of Sex Development (DSD)
• Complete androgen insensitivity syndrome (CAIS)