AUTHOR=Zhuang Jianlong , Chen Chunnuan , Li Jia , Jiang Yuying , Wang Junyu , Wang Yuanbai , Zeng Shuhong , Lin Yiming , Xie Yingjun 

TITLE=The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

JOURNAL=Frontiers in Pediatrics

VOLUME=9

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.682846

DOI=10.3389/fped.2021.682846

ISSN=2296-2360

ABSTRACT=<p><bold>Background:</bold> Very few reports are available on human XX ovotesticular disorder of sex development involving <italic>SOX3</italic> gene duplication. Here we aim to present a rare case of <italic>SOX3</italic> gene duplication in a person from the Chinese population who exhibits XX ovotesticular disorder of sex development.</p><p><bold>Case Presentation:</bold> A 7-year-old Chinese individual from Fujian province in Southeast China was recruited. The patient presented 46, XX karyotype, absence of sex-determining region Y, and was diagnosed with XX ovotesticular disorder of sex development. Furthermore, SNP array analysis demonstrated that the patient had a 2.2-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139,499,778-141,777,782) involving the <italic>SOX3</italic> gene. Additionally, no <italic>SOX3</italic> duplication was observed in the parents or the sibling, who displayed none of the clinical features.</p><p><bold>Conclusion:</bold> We identified the first case of <italic>SOX3</italic> duplication in a Chinese individual who exhibits ovotesticular disorder of sex development. Our study strengthens the link between the <italic>SOX3</italic> duplication and XX ovotesticular disorder of sex development and indicates that <italic>SOX3</italic> is the evolutionary antecedent of sex-determining region Y.</p>