Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

In 2008, researchers described a case of a 31-year-old patient with partial Androgen Insensitivity Syndrome (AIS), who was dissatisfied with their assigned female sex despite being raised as female without medical intervention. The patient, who had ambiguous genitalia at birth, exhibited minimal response to treatment with systemic testosterone and topical dihydrotestosterone. Genetic analysis identified a novel missense mutation, K580R, in the P-box of the DNA-binding domain of the androgen receptor. This mutation was notable for being the first to be shared by both AIS and prostate cancer. The study highlighted the complexity of gender assignment in patients with partial AIS, acknowledging that while the initial gender assignment is often the best predictor of adult gender identity, making such decisions for infants with partial AIS remains a significant challenge.