Differences of sexual development and their clinical implications

Abstract

The term 'differences of sex development' (DSD) defines a wide spectrum of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Presenting at birth or puberty, or as primary subfertility, the precise diagnosis is difficult, the clinical management is controversial and multidisciplinary team care is imperative. Following reclassification of the nomenclature and numerous advances in the field of molecular genetics, our understanding of the aetiologies underpinning these conditions has expanded. While optimal management of DSD remains controversial, it is clear that individualised, patient-centred and multidisciplinary care is paramount. Learning objectives To understand the basic science of sex determination and gonadal development under hormonal, environmental and genetic control. To understand the natural history, presentation and management options of DSD. To understand the manifold psychosexual and reproductive ramifications of DSD. Ethical issues Gender assignment, the fate of the gonads and timing of genital surgery remain controversial.

Intersexuality/Differences of Sex Development through the Discourse of Intersex People, Their Relatives, and Health Experts: A Descriptive Qualitative Study

“…Although the management of DSD remains controversial, as many experts consider bodily variations a manifestation of the diversity of the human being individualized and multidisciplinary care is necessary [3,6].…”