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Article

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.

Human reproduction (Oxford, England) - 1 Oct 2017

Nixon R, Cerqueira V, Kyriakou A, Lucas-Herald A, McNeilly J, McMillan M, Purvis A I, Tobias E S, McGowan R, Ahmed S F

Abstract excerpt

STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS...

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Identifiers

PMID: 28938747
DOI: 10.1093/humrep/dex280
PMCID: PMC5850224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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