Journal of pediatric endocrinology & metabolism : JPEM · 2022
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Oroz Maja, Vičić Ana, Požgaj Šepec Marija, Karnaš Helena, Stipančić Gordana, Stipoljev Feodora
Аннотация
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.
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.