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Article

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2015

Igarashi Maki, Mikami Hitoshi, Katsumi Momori, Miyado Mami, Izumi Yoko, Ogata Tsutomu, Fukami Maki

Abstract excerpt

Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X...

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Source

Identifiers

PMID: 25791725
DOI: 10.1159/000377653

Genes

SOX3

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.

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SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.PMID 25791725Read ↗

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

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 ↗

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

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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