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

Maja Oroz; Ana Vičić; Marija Požgaj Šepec; Helena Karnaš; Gordana Stipančić; Feodora Stipoljev

doi:10.1515/jpem-2022-0324

Article

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

Maja Oroz , Ana Vičić , Marija Požgaj Šepec , Helena Karnaš , Gordana Stipančić and Feodora Stipoljev

Published/Copyright: October 4, 2022

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 1

Abstract

Objectives

Approximately 90% of “XX males” are positive for SRY. However, there are isolated cases of sex reversal associated to other genes in male-determining pathway.

Case presentation

We describe a 1.3-old patient with 46,XX karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a de novo 273 kb duplication in the Xq27.1 region that contains SOX3. FISH with probe specific to SOX3 confirmed a unique genomic location of this duplication, dislocated proximal to the centromere of the X chromosome.

Conclusions

This rare genetic condition was described in few other isolated cases that have associated SOX3 genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.

Keywords: disorders of sex development; SOX3 ; XX males

Corresponding author: Ana Vičić, MSc, PhD, Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh”, Zagreb, Croatia; and University of Applied Health Sciences, Zagreb, Croatia, E-mail: vicic.ana@gmail.com

Acknowledgments

The authors wish to thank the family for their generous collaboration.

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Not applicable.

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Received: 2022-06-27

Accepted: 2022-09-14

Published Online: 2022-10-04

Published in Print: 2023-01-27

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Articles in the same Issue

https://doi.org/10.1515/jpem-2022-0324

Keywords for this article

disorders of sex development; SOX3; XX males