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Approach to the Patient With a Difference of Sexual Development
Hannes Syryn1,2, Elfride De Baere1,2, Martine Cools3,4
1Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
The Journal of Clinical Endocrinology and Metabolism
|July 2, 2025
Summary
Advances in prenatal and postnatal genetic testing for differences in sexual development (DSD) are improving diagnosis. Management now prioritizes patient autonomy, holistic care, and psychosocial support, adapting globally to individual needs.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Diagnostic capabilities for differences in sexual development (DSD) have significantly advanced.
- Medical management paradigms for DSD have shifted towards patient-centered care.
Purpose of the Study:
- To highlight the evolution of DSD diagnosis and management.
- To emphasize the need for culturally sensitive and individualized care pathways.
Main Methods:
- Review of recent advancements in molecular genetic testing for DSD.
- Discussion of two illustrative clinical cases of a common DSD form.
- Analysis of current principles and recommendations for DSD management.
Main Results:
- Expanded availability of pre- and postnatal genetic diagnostic tools for DSD.
- Increased focus on patient autonomy, holistic care, and psychosocial support in DSD management.
- Demonstration of how universal DSD guidelines require local adaptation.
Conclusions:
- Effective DSD management necessitates translating universal principles into culturally aligned clinical pathways.
- Individualized approaches, shared decision-making, and locally relevant guidelines are crucial for optimal DSD outcomes.
- Global healthcare disparities require tailored strategies for DSD diagnosis and care.
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