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Disorders of sexual development
1Section of Pediatric Gynecology, Division of Endocrinology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada. lallen@mtsinai.on.ca
Insights
Disorders of sex development (DSD) involve variations in sex characteristics. This review focuses on diagnosing and managing ambiguous genitalia in infants, including surgical and disclosure approaches.
Area of Science:
- Medical science
- Pediatrics
- Endocrinology
Background:
- Disorders of Sex Development (DSD) encompass conditions where chromosomal, gonadal, or anatomical sex development deviates from typical patterns.
- These variations can lead to incongruence between different aspects of sex development.
- Ambiguous genitalia in newborns presents complex challenges for medical professionals and families.
Purpose of the Study:
- To review the diagnostic and management strategies for infants with disorders of sex development and ambiguous genitalia.
- To discuss the evolution of surgical policies and the impact of long-term outcome studies.
- To present a framework for developmental approaches to disclosure for affected children and families.
Main Methods:
- Review of current medical and surgical management practices for DSD.
- Analysis of evolving surgical techniques and outcomes.
- Examination of diagnostic approaches in the newborn period.
- Discussion of interprofessional team collaboration in DSD care.
Main Results:
- Management of DSD requires an interprofessional team approach, emphasizing timely diagnosis and appropriate gender assignment.
- Surgical interventions for DSD have evolved, with ongoing research into long-term outcomes.
- Developmental considerations are crucial for disclosure and ongoing support.
Conclusions:
- Effective management of DSD necessitates a multidisciplinary approach, integrating medical, surgical, and psychosocial aspects.
- Continued research on long-term outcomes is vital for refining treatment strategies.
- A sensitive, developmental approach to disclosure is essential for the well-being of individuals with DSD.
Abstract:
Disorders of sex development are medical conditions in which the development of chromosomal, gonadal, or anatomic sex varies from normal and may be incongruent with each other. This article primarily addresses the medical conditions where infants may be born with ambiguous genitalia leading to decisions with regard to gender assignment. The approach to investigations and diagnosis in the newborn period will be stressed within an interprofessional team. Policies with regard to surgery have developed, with techniques evolving and data emerging from long-term outcome studies. Current medical and surgical management are reviewed. Finally, a developmental approach to disclosure is presented.
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