Challenges Waiting for an Adult with DSD

Abstract

Background: 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 paediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach. Summary: Psychological support has become a key factor in the management of DSD. After paediatric 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 outcomes 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 not only paediatricians and adult endocrinologists but also urologists, andrologists or gynaecologists, and psychologists. Key Messages: This review addresses issues relating to transition of DSD care from the paediatric to adult care as well as health-related challenges in adulthood in DSD.