Primary Amenorrhea in Patients with Partial and Complete Androgen Insensitivity Syndrome: A Case Report

Primary amenorrhea may be the first clinical manifestation of a 46,XY disorder of sex development, including androgen insensitivity syndrome. Here, we report two patients who presented with primary amenorrhea and diagnosed with different phenotypes of androgen insensitivity syndrome. The first patient showed features of partial androgen insensitivity syndrome with clitoromegaly and inguinal testes, while the second patient was diagnosed with complete androgen insensitivity syndrome with vaginal agenesis and bilateral undescended testes. Both patients had a 46,XY karyotype but demonstrated different hormonal profiles and clinical management. One patient was planned for elective gonadectomy and vaginal reconstruction, while the other underwent successful neovagina reconstruction with bilateral gonadectomy. This report highlights the phenotypic variability of androgen insensitivity syndrome and emphasizes the importance of individualized multidisciplinary management.