Global Perspective of the Management of Patients with Differences of Sex Development in Low- and Middle-Income Countries: A Scoping Review
8 affiliations
- 1Department of Pediatrics, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
- 2Department of Clinical Psychology, Hospital de Niños Ricardo Gutierrez Buenos Aires, Buenos Aires, Argentina
- 3Pediatric Endocrine Department, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan
- 4Department of Paediatrics and Child Health, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan
- 5Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
- 6Medical Library–Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands
- 7Department of Paediatrics, Isala Hospital, Zwolle, The Netherlands
- 8Division of Endocrinology, Department of Pediatrics, Sophia Children’s Hospital, Erasmus MC, Rotterdam, The Netherlands
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.
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BibTeX
@article{utari2026global,
title = {{Global Perspective of the Management of Patients with Differences of Sex Development in Low- and Middle-Income Countries: A Scoping Review}},
author = {Agustini Utari and Marcelo Silberkasten and Salwa Musa and Samar Hassan and Rajni Sharma and Wichor Bramer and Yvonne G. van der Zwan and Stenvert L.S. Drop},
journal = {Sexual Development},
year = {2026},
month = sep,
doi = {10.1159/sxd/aerag004},
url = {https://doi.org/10.1159/sxd/aerag004},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Global Perspective of the Management of Patients with Differences of Sex Development in Low- and Middle-Income Countries: A Scoping Review
AU - Agustini Utari
AU - Marcelo Silberkasten
AU - Salwa Musa
AU - Samar Hassan
AU - Rajni Sharma
AU - Wichor Bramer
AU - Yvonne G. van der Zwan
AU - Stenvert L.S. Drop
PY - 2026
DA - 2026/09/10
JO - Sexual Development
DO - 10.1159/sxd/aerag004
UR - https://doi.org/10.1159/sxd/aerag004
AB - 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.
SN - 1661-5425
SN - 1661-5433
ER -