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Article

Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and Diagnosis

10 Jan 2025

Abstract excerpt

CONTEXT: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. OBJECTIVE: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 39812180
DOI: 10.1210/clinem/dgaf020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and DiagnosisPMID 39812180Read ↗

SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicismSemantic proximity Read ↗

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9Semantic proximity Read ↗

[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication].Semantic proximity Read ↗

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)Semantic proximity Read ↗

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literatureSemantic proximity Read ↗

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.Semantic proximity Read ↗

[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature ReviewSemantic proximity Read ↗

Autosomal XX sex reversal caused by duplication of SOX9.Semantic proximity Read ↗

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

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