19. Case of complete androgen insensitivity syndrome with gonads containing rudimentary penile tissue and both Mullerian and Wolffian type structures

Complete androgen insensitivity (CAIS) is a disorder of sexual development (DSD). It is caused by a loss of function mutation in a person with a XY genotype, where testosterone has no effect on sexual development. It is inherited in an X-linked recessive pattern, and is typically discovered in amenorrhoeic women, or girls with cryptorchid gonads that come to medical attention. Generally, gonadectomy is recommended post-puberty on an individualized basis to prevent malignancy.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research