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

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

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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 chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.

Original languageEnglish
Pages (from-to)125-129
Number of pages5
JournalSexual Development
Issue number3
Publication statusPublished - 2015 Aug 20


  • Disorders of sex development
  • Duplication
  • Gonad
  • SOX3

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Embryology
  • Developmental Biology


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