Challenges waiting for an adult with DSD

Abstract

Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual’s sex chromosomes, gonads and/or anatomical sex are discordant. Since the Chicago consensus conference in 2005, multidisciplinary care has been implemented in specialised pediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach. Psychological support has become a key factor in the management of DSD. After pediatric care, one of the main challenges is the transition of patients to expert care in adulthood. Patients frequently experience difficulties in accessing specialised medical care in adulthood resulting in loss-to-follow-up affecting the patients’ physical and psychological health as well as quality of life. Clinical features and long-term outcome are highly variable in most DSD conditions. Although medical care has improved, morbidity and mortality are increased in all conditions. A particular challenge in the care of DSD patients in adulthood is optimisation of fertility potential. Ideally this is addressed already in adolescence and requires close interaction of pediatricians and adult endocrinologists but also urologists, andrologists or gynecologists and psychologists. This review addresses issues relating to transition of DSD care from the pediatric to adult care as well as health-related challenges in adulthood in DSD.