Approach to the Patient With a Difference of Sexual Development.

Abstract

Available prenatal and postnatal tests for obtaining a molecular genetic diagnosis for differences of sexual development (DSD) have largely expanded over the last decade. More importantly, the medical management of these conditions has taken a different approach, with greater emphasis on patient autonomy, holistic care, and psychosocial support. These changes are illustrated through the discussion of 2 cases with a common form of DSD. While the principles and recommendations for the diagnosis and medical management of DSD are universal in nature, they need to be translated into clinical care pathways that align with the specific sociocultural background of patients and their caregivers to ensure the best possible outcome. Considering the inherent global differences in the organization and accessibility of health care and available resources, this requires an individualized approach based on shared decision-making and clinical guidelines that are in line with local facilities and societal context.