Emerging issues in disorders/differences of sex development (DSD)

Abstract

Disorders/Differences of Sex Development (DSD), as defined by the 2006 Consensus Statement, are "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical." They represent a spectrum of chronic medical conditions collectively affecting about 1% of the population and are associated with increased risk of infertility, cancer, and psychosocial distress. Clinical management in DSD is subject to multiple controversies about gender assignment, the timing and appropriateness of genital surgery and the approach to disclosure. There is dissent within and between stakeholders (healthcare providers, advocacy groups, families) regarding what constitutes optimal care. This special issue investigates the progress made as well as the uncertainties remaining a decade after the consensus statement and the gaps to be filled by future research and improved clinical practice. It discusses the increasing intricacy of genetic variant interpretation in the era of next-generation sequencing and the associated complexity of phenotypic variability. The issue tackles ethical dilemmas and the complicated decision-making process of assignment of sex of rearing at birth in cases of 5-alpha reductase type 2 deficiency, surveys delivery of clinical services in the United States, discusses challenges of interdisciplinary care and of educating patients and parents about DSD,and reviews the factors predisposing to gonadal tumor and their consequences on clinical management.

Keywords: differences of sex development; disorders of sex development.