Disorders of sex development (DSD): an overview of recent scientific advances

Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by larger populations of people with DSD diagnoses attending specialist centres, these discoveries are enabling medical doctors and scientists to map out the long-term clinical presentations of a number of conditions. In terms of benefits to patients, the new discoveries have paid dividends in two specific ways. First of all, even though knowledge may remain incomplete, our understanding of the risk of malignancy in retained gonads has improved significantly. Consequently, care providers are in a stronger position than they have ever been to advise patients in their decision-making processes around removing or retaining their gonads. Second, more scientific understanding has led to improved fertility outcomes for women who have a uterus, as in Turner’s Syndrome, Congenital adrenal hyperplasia and Swyer’s Syndrome.