Potential risk of inguinal hernia in complete androgen insensitivity syndrome.

Abstract

Complete androgen insensitivity syndrome (CAIS) presents as female external genitalia despite elevated serum testosterone levels and an XY karyotype, because of compromised androgen action owing to androgen receptor (AR) defects (1). Sporadic CAIS is usually diagnosed based on inguinal hernia (IH) or primary amenorrhea (1, 2). When CAIS is diagnosed in neonates or infants before the development of IH, it is unknown whether the potential risk of IH should be addressed during genetic counseling. Here, we report the case of an infant with CAIS who developed IH during follow-up, conveying the importance of sharing the potential risk of IH with parents soon after the diagnosis of CAIS.