Work

Global Perspective of the Management of Patients with Differences of Sex Development in Low- and Middle-Income Countries: A Scoping Review

Year: 2026

Type: review

Abstract: BACKGROUND: We explored literature published between January 2010 and July 2024 on the diagnosis and management of patients with differences of sex development (DSDs) in low-middle- and upper-middle-income countries (LMIC/UMIC). SUMMARY: Scientific databases were searched, and peer-reviewed articles were reviewed according to predefined inclusion criteria. Data were extracted, including the study focus, geographical location, target population, target disease(s), and outcomes. Overall, 557 of the 627 papers addressed various aspects of DSD management and 20 were classified as reviews. Retrospective clinical studies (n = 121) and molecular genetic studies (n = 150) were mostly single-center observational studies that described various DSD conditions or focused on specific diagnoses. Case reports (n = 264) describing the clinical and molecular genetic aspects of DSD were prominent in middle-income countries. International collaboration was mentioned in 15% of studies. In-depth screening was conducted using a generative AI-based data extraction tool. A predefined extraction prompt was applied ensuring consistency. The screening resulted in a pragmatic impact grading A-E. Moreover, the inclusion of various molecular genetic tests contributed to improved diagnostic accuracy and diagnostic yield and reduction of misclassification and diagnostic delay. These tests led to changes in hormonal and surgical management and contributed to the avoidance of unnecessary interventions. Genital surgery remained controversial with respect to its appropriateness, timing, and long-term outcomes, leading to clinical uncertainty in the decision-making process. A pragmatic algorithm to the diagnosis and management of DSD suitable for low-resource settings is presented. KEY MESSAGES: The geographical distribution and volume of studies on DSD management in LMIC/UMIC originated in East/South Asia, Middle East/North Africa, and South/Central America. The inclusion of various molecular genetic tests contributed to improved diagnostic accuracy, with positive effects on hormonal and surgical management. We present a pragmatic diagnostic algorithm for the management of DSD suitable for low-resource settings with a key role for a multidisciplinary approach. We advocate the development of context-specific management guidelines tailored to LMIC/UMIC, considering sociocultural environments and resource constraints. Furthermore, promoting international collaboration in education, training, and consultation will be highly beneficial for improving the care of individuals with DSD in RLS.

Source: Sexual Development

DOI: 10.1159/sxd/aerag004