Disorders of sex development — new terminology and new recommendations for therapeutic management

Abstract

Disorders of sex development (DSD) as a medical term appeared relatively recently. Disorders of sex differentiation resulting in abnormalities in external and/or internal genitals were called hermaphroditism or intersexuality, and were regarded by patients and their families as stigmatizing and causing mental suffering. Thus was born the idea of a more neutral terminology. In 2006, a consensus with proposals to introduce a new classification and treatment for DSD was published. The consensus was established by experts from the American Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE). The new definition includes all inherited disorders in which there is abnormal development of the chromosomal, gonadal, genital, phenotypic and psychic sex. Attempts to develop more optimal diagnostic and therapeutic recommendations are being made simultaneously with the new definition. However, work is still underway to develop an unambiguous algorithm in children and adults with DSD.