A clinical algorithm to diagnose differences of sex development

Nayla Y. León; Alejandra P. Reyes; Vincent R. Harley

doi:10.1016/S2213-8587(18)30339-5

A clinical algorithm to diagnose differences of sex development

Nayla Y. León, Alejandra P. Reyes, Vincent R. Harley

Research output: Contribution to journal › Review Article › Research › peer-review

43 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	560-574
Number of pages	15
Journal	The Lancet Diabetes and Endocrinology
Volume	7
Issue number	7
DOIs	https://doi.org/10.1016/S2213-8587(18)30339-5
Publication status	Published - 1 Jul 2019
Externally published	Yes

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10.1016/S2213-8587(18)30339-5

Cite this

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AU - Harley, Vincent R.

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N2 - 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.

AB - 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.

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JO - The Lancet Diabetes and Endocrinology

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A clinical algorithm to diagnose differences of sex development

Abstract

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Disorders of Sex Development: Genetics, diagnosis, Informing Clinical Care

NHMRC Research Fellowship

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A clinical algorithm to diagnose differences of sex development

Abstract

UN SDGs

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Disorders of Sex Development: Genetics, diagnosis, Informing Clinical Care

NHMRC Research Fellowship

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