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Update on the management of a newborn with a suspected difference of sex development
Angela K Lucas-Herald1, Martina E Rodie2,3, S Faisal Ahmed4
1Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK.
Insights
Early expert input is crucial for diagnosing and managing differences or disorders of sex development (DSD). Multidisciplinary services offer vital support for patients and families, improving long-term outcomes.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Differences or disorders of sex development (DSD) are complex conditions often identified at birth due to atypical genitalia.
- Advances in diagnostics, therapeutics, and societal views necessitate updated management approaches.
Purpose of the Study:
- To emphasize the critical need for early, expert multidisciplinary services for DSD management.
- To highlight the role of these services in diagnosis, patient/family support, and long-term care planning.
Main Methods:
- Review of current knowledge and technological advancements in DSD.
- Emphasis on the integration of diagnostic, therapeutic, and supportive care within a specialized service model.
Main Results:
- Improved understanding of DSD requires specialized, early intervention.
- Multidisciplinary teams are essential for comprehensive patient and family support.
- Early diagnosis and management planning are foundational for optimal long-term outcomes.
Conclusions:
- Early expert input via multidisciplinary services is paramount for effective DSD management.
- These services should integrate diagnostics, treatment, and psychosocial support.
- Commitment to research and quality improvement within national/international networks is vital.
Abstract:
Differences or disorders of sex development are a group of heterogeneous conditions, which most commonly present in the newborn period, with the appearance of atypical genitalia on newborn examination. Over recent years, the improvement in our knowledge of these conditions has been accompanied by advances in diagnostic technology and therapeutic options, as well as societal shifts in attitudes and expectations. These factors have placed an even greater emphasis than before on the need for early expert input through a multidisciplinary service that can support the patient and the family; perform and interpret the investigations required to reach a diagnosis; and formulate a management plan that lays down the foundation for optimal long-term outcome. While providing a regional service, the expert team should also be committed to research and quality improvement through participation in national and international networks.
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