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Article

Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.

Hormone research in paediatrics - 1 Jan 2023

O'Connell Michele A, Atlas Gabby, Ayers Katie, Sinclair Andrew

Abstract excerpt

BACKGROUND: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal profiles of children with various differences of sex development (DSD) are often similar, which presents challenges to ascertaining an accurate diagnosis on clinical grounds alone. Associated features and important clinical outcomes can, however, vary significantly in different DSD, thus establishing an accurate molecular...

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PMID: 34781289
DOI: 10.1159/000520926

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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