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Disorders of sex development
M Barbaro1, A Wedell, A Nordenström
1Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Seminars in Fetal & Neonatal Medicine
|February 10, 2011
Summary
Infants with ambiguous genitalia require thorough investigation to pinpoint the cause of sex development disorders. Management necessitates a multidisciplinary team, genetic testing, and psychological support.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- Ambiguous genitalia in infants presents a complex clinical challenge requiring systematic investigation.
- Understanding sex differentiation involves assessing hormone production, anatomical structures, and genetic factors.
- Recent advances in genetics offer new diagnostic possibilities for disorders of sex development.
Purpose of the Study:
- To outline a systematic approach for investigating infants with ambiguous genitalia.
- To highlight the genetic basis and molecular mechanisms underlying disorders of sex development.
- To emphasize the importance of a multidisciplinary approach in patient management.
Main Methods:
- Clinical investigation of hormone production and anatomical structures.
- Genetic analysis to identify affected pathways in sex development.
- Review of current knowledge on gene dosage effects in embryonic development.
Main Results:
- Sex development is a complex process involving coordinated gene activation and hormonal signaling.
- Disorders of sex development can arise from disruptions at chromosomal, gonadal, or hormonal levels.
- Gene dosage-dependent effects are crucial in both male and female gonadal development.
Conclusions:
- Management of ambiguous genitalia requires a specialized, multidisciplinary team.
- Comprehensive genetic investigation is essential for accurate diagnosis.
- Psychological considerations are integral to the care of patients with disorders of sex development.
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