A clinical algorithm to diagnose differences of sex development

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

Research output: Contribution to journalReview ArticleResearchpeer-review

31 Citations (Scopus)


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 languageEnglish
Pages (from-to)560-574
Number of pages15
JournalThe Lancet Diabetes and Endocrinology
Issue number7
Publication statusPublished - 1 Jul 2019
Externally publishedYes

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