A clinical algorithm to diagnose differences of sex development
| Autor: | Nayla Y León, Alejandra P Reyes, Vincent R. Harley |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Endocrinology Diabetes and Metabolism MEDLINE Disorders of Sex Development 030209 endocrinology & metabolism Intersex Persons Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Endocrinology Internal Medicine medicine Humans 030212 general & internal medicine Intensive care medicine business.industry Sexual Development Infant Newborn Clinical algorithm Ambiguous genitalia External genitalia Etiology Presentation (obstetrics) business Psychosocial Algorithms |
| Zdroj: | Yearbook of Paediatric Endocrinology. |
| ISSN: | 1662-4009 |
| Popis: | Summary The diagnosis and management of children born with ambiguous genitalia is challenging for clinicians. Such differences of sex development (DSDs) are congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. The aetiology of DSDs is very heterogenous and a precise diagnosis is essential for management of genetic, endocrine, surgical, reproductive, and psychosocial issues. In this Review, we outline a step-by-step approach, compiled in a diagnostic algorithm, for the clinical assessment and molecular diagnosis of a patient with ambiguity of the external genitalia on initial presentation. We appraise established and emerging technologies and their effect on diagnosis, and discuss current controversies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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