Atypical/Ambiguous/Non-binary Genitalia

Abstract

Atypical/ambiguous genitalia refers to any variation from “typical” phenotypic male or female genital appearance. It encompasses a spectrum from isolated hypospadias or clitoromegaly to significant variations from typical in which sex assignment is in question. Presentation with atypical genitalia requires thoughtful medical management as well as attention to the psychosocial and emotional needs of the patient and family. Many cases of atypical genitalia will benefit from multidisciplinary involvement including pediatric urology, endocrinology, psychiatry and/or social work, and genetics. When such services are not immediately available in person, the ability to describe pertinent history and a thorough physical examination is very helpful in reaching decisions about probable diagnoses and further management. This chapter will discuss key aspects of the history and physical examination as well as initial recommended laboratory evaluation for patients with atypical genitalia. Atypical genital appearance typically heralds a diagnosis of “DSD,” or a disorder of sex development (or differences in sex development), further discussed in Chap. 46. Congenital adrenal hyperplasia is further discussed in Chap. 49.