Abstract Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disorder in which individuals with a 46,XY karyotype exhibit a phenotypically female appearance due to end-organ resistance to androgens. We present a 21-year-old phenotypic female with left groin pain and a palpable right labial mass. Clinical findings included normal breast development, scant pubic and axillary hair, primary amenorrhea, clitoromegaly resembling a microphallus and bifid scrotum-like labia. Imaging revealed a left inguinal undescended testis with hernia and a right testis in the right labia majora, with absent uterus and ovaries. Karyotyping confirmed a 46,XY genotype. After multidisciplinary counselling, the patient chose to retain female gender identity and initiate lifelong oestrogen therapy. Laparoscopic transabdominal pre-peritoneal (TAPP) hernia repair with synchronous bilateral orchidectomy was performed. Recovery was uneventful with excellent cosmesis. This is the first reported case of PAIS managed with combined laparoscopic TAPP hernia repair and bilateral orchidectomy, underscoring the importance of individualised gender-affirming management and the versatility of minimally invasive surgery.
Shrivastav et al. (Thu,) studied this question.