Naslov
The smallest dislocated microduplication of Xq27.1 harboring <i>SOX3</i> gene associated with XX male phenotype

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

Izvornik
Journal of Pediatric Endocrinology and Metabolism (0334-018X) 36 (2022), 1; 86-90

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
disorders of sex development ; XX males, SOX3

Sažetak
Background Approximately 90% of &#39; &#39; XX males&#39; &#39; are positive for SRY. However, there are isolated cases of sex reversal associated to other genes in male- determining pathway. What is new  a self-sufficient pathogenic role of SOX3 overdosage in gonadal development  a dislocated duplication of SOX3 in our patient is first described  the smallest duplication of SOX3 associated with DSD 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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA