Partial Androgen Insensitivity Syndrome (PAIS) is a disorder of sexual development in 46, XY individuals caused by mutations in the androgen receptor gene, leading to partial androgen resistance. We report a 16-year-old male with micropenis and a history of two gynecomastia surgeries; his maternal uncle had similar features but preserved fertility. Hormonal tests revealed elevated testosterone (1256 ng/ dL) and mildly raised LH (8.87 mIU/mL), with normal FSH. Semen analysis was normal, and ultrasound excluded Müllerian structures. Karyotyping showed 46, XY with a 9qh+ variant. These findings favored PAIS over 5-alpha reductase deficiency. After multidisciplinary evaluation, topical testosterone was considered but not initiated, and penile reconstruction was deferred. This case illustrates the rare phenomenon of preserved fertility in PAIS and highlights how individualized management is critical, especially in resource-limited settings.
Acharya et al. (Sun,) studied this question.