Evaluation of ambiguous genitalia

Purpose of review To provide a framework for the evaluation of ambiguous genitalia. Recent findings The most pressing evaluation of ambiguous genitalia is assessment for life-threatening causes such as salt-wasting congenital adrenal hyperplasia (CAH) or syndromes with underlying anomalies such as neurologic or cardiac malformations. A multidisciplinary team, including specialists in Gynecology, Endocrinology, Urology, Genetics, Clinical Psychology/Psychiatry, Radiology, Nursing, Neonatology, and Pediatric Surgery, should be involved. Each patient should be approached in an individualized manner to assign sex of rearing in the most expeditious yet thoughtful means possible. As knowledge on the natural history of sex preference and fertility of individuals with ambiguous genitalia increases, controversy regarding the indication for and timing of genital surgery continues. Considerations include gender identity, future fertility, malignancy risk, infection prevention, and functional anatomy for sexual activity. The evaluation of ambiguous genitalia should involve a multidisciplinary team. A combination of history taking, physical examination, laboratory evaluation, and radiologic assessment can assist with the diagnosis. Care should be taken to emphasize karyotypic sex is not equivalent to gender and to use caution with regards to irreversible medical and surgical therapies which may impact fertility and sexual function and nonconform with future sex identity.