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Evaluation of ambiguous genitalia
Kathryn Stambough1,2, Leila Magistrado1, Gisselle Perez-Milicua1,2
1Department of Obstetrics and Gynecology.
Current Opinion in Obstetrics & Gynecology
|August 20, 2019
Summary
Evaluating ambiguous genitalia requires a multidisciplinary team approach. Early assessment for life-threatening conditions and individualized sex assignment are crucial for optimal patient outcomes.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Biology
Background:
- Ambiguous genitalia, also known as disorders of sex development (DSD), present complex diagnostic and management challenges.
- Accurate and timely evaluation is critical to rule out life-threatening conditions like congenital adrenal hyperplasia (CAH) and associated anomalies.
Purpose of the Study:
- To establish a comprehensive framework for the evaluation of ambiguous genitalia.
- To guide the multidisciplinary team in the assessment and management of infants with DSD.
Main Methods:
- Multidisciplinary team approach involving specialists in Gynecology, Endocrinology, Urology, Genetics, Psychology, Radiology, Neonatology, and Surgery.
- Comprehensive evaluation including detailed history, physical examination, laboratory tests (hormonal assays, genetic testing), and radiologic imaging.
- Individualized assessment for sex of rearing, considering medical, psychological, and social factors.
Main Results:
- Prioritization of assessment for life-threatening conditions such as salt-wasting CAH and underlying syndromic anomalies.
- Emphasis on an individualized approach to sex assignment, balancing expediency with thoughtful consideration.
- Growing understanding of DSD natural history influences ongoing debates regarding surgical interventions.
Conclusions:
- Evaluation of ambiguous genitalia necessitates a collaborative, multidisciplinary team effort.
- Diagnostic tools include history, physical exam, laboratory, and radiologic assessments.
- Caution is advised regarding irreversible therapies, respecting the distinction between karyotypic sex and gender identity, and preserving future fertility and sexual function.
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