The Approach to Patients with Disorders of Sex Development (DSD) in the Era of Precision Medicine: The Careful Use of Terminology

Abstract

The term “DSD” was coined for “disorders of sex development”, referring to conditions where the chromosomal, gonadal and/or genital sex is discordant or ambiguous, to replace terms considered imprecise and stigmatizing. Recently, the term “disorder” has been questioned and the term “differences” has been proposed as not stigmatizing, reflecting that the term DSD should be depathologized. In this opinion article, I discuss the importance of using precise technical terminologies amongst healthcare professionals, in the era of “precision medicine”, to avoid misleading diagnoses or classifications while being extremely careful to use sensitive terminologies when interacting with patients and their families. On the other hand, I challenge the concept that DSD are not disorders.