The smallest dislocated microduplication of Xq27.1 harboring <i>SOX3</i> gene associated with XX male phenotype-Reference-Cited by-同舟云学术

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

Published:2022-10-04 Issue:1 Volume:36 Page:86-90
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Oroz Maja¹,Vičić Ana¹²^ORCID,Požgaj Šepec Marija³,Karnaš Helena⁴,Stipančić Gordana³⁵,Stipoljev Feodora¹⁶

Affiliation:

1. Cytogenetic Laboratory, Department of Obstetrics and Gynecology , Clinical Hospital “Sveti Duh” , Zagreb , Croatia

2. University of Applied Health Sciences , Zagreb , Croatia

3. Department of Pediatrics , University Hospital Center Sestre Milosrdnice , Zagreb , Croatia

4. Department of Pediatrics , General Hospital Vinkovci , Vinkovci , Croatia

5. School of Dental Medicine , University of Zagreb , Zagreb , Croatia

6. Faculty of Medicine , Josip Juraj Strossmayer University of Osijek , Osijek , Croatia

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2022-0324/pdf

Reference10 articles.

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3. Grinspon, RP, Nevado, J, Alvarez, MDLAM, Rey, GD, Castera, R, Venara, M, et al.. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy. Clin Endocrinol 2016;85:673–5. https://doi.org/10.1111/cen.13126.

4. Zhuang, J, Chen, C, Li, J, Jiang, Y, Wang, J, Wang, Y, et al.. The 46, XX ovotesticular disorder of sex development with Xq27.1q27.2 duplication involving the SOX3 gene: a rare case report and literature review. Front Pediatr 2021;9:682846. https://doi.org/10.3389/fped.2021.682.

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