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Published on: September 27, 2020
Disorders of sex development
1Department of Urology, University of Ulsan College of Medicine, Seoul, Korea.
Insights
Disorders of Sex Differentiation (DSDs) are rare conditions presenting with ambiguous genitalia at birth. New terminology and individualized, multidisciplinary management are crucial for optimal patient care.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Urology
Background:
- Ambiguous genitalia at birth present diagnostic and management challenges, historically using outdated and potentially offensive terminology.
- The term 'intersex' and related terms are being replaced due to their confusing and pejorative connotations.
Purpose of the Study:
- To introduce the updated terminology for disorders of sex differentiation (DSDs) based on the Chicago Consensus.
- To provide a balanced perspective on the classification, evaluation, and management of DSDs.
- To emphasize the need for individualized and multidisciplinary care for DSD patients.
Main Methods:
- Review of current literature and consensus recommendations regarding DSD terminology and management.
- Discussion of the Chicago Consensus (2005) and its proposed classification system for DSDs.
- Outline of a multidisciplinary approach to DSD management, including psychological support.
Main Results:
- The term Disorders of Sex Differentiation (DSDs) is recommended as an umbrella term for conditions with atypical genitalia development.
- Classification of DSDs utilizes the karyotype as a prefix.
- Optimal management requires an individualized, multidisciplinary approach encompassing medical, surgical, and psychological aspects.
Conclusions:
- The adoption of standardized terminology like DSDs is essential for clear communication and sensitive patient care.
- Individualized and multidisciplinary management strategies are paramount for addressing the complexity of DSDs.
- Further research is needed to refine guidelines for the optimal care of individuals with DSDs.
Abstract:
The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaphrodite', and 'pseudohermaphrodite' is out of date as well as confusing, and many urologists are concerned that these confusing terms could be perceived to be pejorative by some affected families. In response to concerns regarding outdated and controversial terms, the Chicago Consensus held in 2005 recommended new terminology based on the umbrella term disorders of sex differentiation (DSDs). The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, considering all aspects, including psychological care and full disclosure of alternatives relating to surgery type and timing. Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt to provide a balanced perspective for new taxonomy, clinical evaluation, and medical, surgical, and psychological management of DSD.
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