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Article

Autosomal XX sex reversal caused by duplication of SOX9.

American journal of medical genetics - 3 Dec 1999

Huang B, Wang S, Ning Y, Lamb A N, Bartley J

Abstract excerpt

SOX9 is one of the genes that play critical roles in male sexual differentiation. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. A newborn infant was referred for genetic evaluation because of abnormal male external genitalia. The infant had severe penile/scrotal hypospadias....

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Topics

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Share to Chromosomes, Human, Pair 17
Share to Disorders of Sex Development
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High Mobility Group Proteins

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 10588843
DOI: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n

Genes

SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Autosomal XX sex reversal caused by duplication of SOX9.PMID 10588843Read ↗

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Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.Semantic proximity Read ↗

The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.Semantic proximity Read ↗

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

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

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Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

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

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