Disorders of Sex Development

Abstract

Disorders of sex development (DSDs) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex. The acronym DSD and the related nomenclature were coined in a consensus meeting held in 2005 and recently revised and endorsed by all major pediatric endocrine societies;1 they replaced previously used terms, like hermaphroditism or pseudohermaphroditism, perceived as pejorative. The nomenclature has been generally accepted by medical professionals, though not universally by some patient support groups. The strength of this terminology is that it provides precise biological terms for the communication between professionals, thus facilitating patient access to high-quality healthcare...