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Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons
Irene Kearsey1,2, John M Hutson3,4,5
1Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Insights
This review prepares pediatric surgeons for diagnosing and managing disorders of sex development (DSD) in children. It outlines common clinical scenarios and recommended management pathways for DSD cases.
Area of Science:
- Pediatric Surgery
- Endocrinology
- Genetics
Background:
- Disorders of sex development (DSD) present complex diagnostic and management challenges in pediatric surgical practice.
- Early recognition and appropriate management are crucial for optimal patient outcomes.
Purpose of the Study:
- To equip pediatric surgeons with knowledge of common DSD clinical scenarios.
- To provide guidance on the diagnosis and management of DSD in pediatric patients.
- To standardize surgical approaches for DSD cases.
Main Methods:
- This study is a review of common clinical presentations of DSD in pediatric surgery.
- It synthesizes information on diagnostic approaches and management strategies.
- The review focuses on scenarios encountered by surgeons.
Main Results:
- DSD manifests in neonates with genital abnormalities, children during hernia repair or orchidopexy, and adolescents with pubertal disturbances.
- The review details clinical features, differential diagnoses, and recommended management pathways for each scenario.
- Specific surgical contexts like hypospadias correction are also addressed.
Conclusions:
- Pediatric surgeons must be prepared to identify and manage DSD across various clinical settings.
- A systematic approach to diagnosis and management is essential for patients with DSD.
- This review serves as a guide for surgical management of DSD.
Introduction And Methods:
In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations.
Results:
DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty. We describe the clinical features, likely diagnoses and the recommended management pathway in these scenarios.
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