Disorders of Sex Development

GRINSPON R P; REY RA

Maternal-Fetal and Neonatal Endocrinology

Elsevier

Año: 2020; p. 841 - 867

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 aconsensus meeting held in 2005 and recently revised and endorsed by all major pediatric endocrine societies;1 they replacedpreviously used terms, like hermaphroditism or pseudohermaphroditism, perceived as pejorative. The nomenclature hasbeen generally accepted by medical professionals, though not universally by some patient support groups. The strengthof this terminology is that it provides precise biological terms for the communication between professionals, thus facilitatingpatient access to high-quality healthcare. The negative connotation perceived by some advocacy organizationsinclude the stigma of ?disorder? and perceived implications that ?sex? involves sexual behavior. Some authors have proposedthe use of ?differences in sex development?. We prefer to keep the term ?disorder? in order to maintain a coherencewith other medical conditions in which there is a biological divergence from normal development or physiology (e.g., congenitalheart disease, congenital malformation of lungs, etc.). In this way, we avoid confusion with psychosocial situationsthat are not disorders, such as transgender, gender dysphoria and homosexuali. In this chapter, the complexity of DSD will be approached by describing first a karyotype-based classification derivingfrom the 2005 consensus and then the developmental pathogenesis of the disorders. Finally, concurring with this book?sscope, the diagnosis and management of DSD will be focused on the neonatal patient, with only brief descriptions on presentationsand evolution in later periods of life.