From Diagnosis to Gender Identity Resolution in Androgen Insensitivity Syndrome: Clinical and Psychological Insights from a Case Study

Abstract

Androgen insensitivity syndrome (AIS), formerly known as testicular feminizing syndrome, is a rare genetic condition where individuals with a male XY karyotype are resistant to male hormones (androgens), leading to the development of female physical characteristics despite having a male genetic makeup. The condition results from mutations in the AR gene. Defective receptor assembly leads to varying degrees of androgen insensitivity, ranging from complete AIS (CAIS) to partial (PAIS) or mild forms (MAIS).
We present a case report of patients in their 20s raised as girls, who presented with primary amenorrhea and ambiguous genitalia, accompanied by signs of masculinization. MRI findings revealed absent reproductive structures, such as the uterus and ovaries, but showed the presence of bilateral testicles. After careful discussions among medical professionals and the patient’s family, a decision was made to assign the male gender. The patient was subsequently scheduled for surgical intervention, including the first stage of chordee repair and right orchidopexy.
AIS, an X-linked disorder, results from mutations in the AR gene, leading to a spectrum of androgen insensitivity. Managing AIS requires a multidisciplinary approach due to its complexity. In this case, surgical interventions such as chordee repair and genitoplasty successfully addressed medical and cosmetic concerns. Studies on cosmetic outcomes post-genioplasty show significant improvement and satisfaction among patients, emphasizing the importance of early intervention and long-term follow-up. Following multidisciplinary evaluation and surgical intervention (chordee repair and orchidopexy), the patient successfully transitioned to male gender assignment with satisfactory functional and cosmetic results. The case highlights the critical need for tailored care in managing AIS.