A clinical algorithm to diagnose differences of sex development

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...

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Bibliographic Details
Published in:	The lancet. Diabetes & endocrinology Vol. 7; no. 7; pp. 560 - 574
Main Authors:	León, Nayla Y, Reyes, Alejandra P, Harley, Vincent R
Format:	Journal Article
Language:	English
Published:	England Elsevier Ltd 01-07-2019
Subjects:	Algorithms Diagnosis, Differential Disorders of Sex Development - diagnosis Humans Infant, Newborn Intersex Persons Sexual Development
Online Access:	Get full text
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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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	2213-8587 2213-8595
DOI:	10.1016/S2213-8587(18)30339-5