DUPLICATION OF THE SOX3 GENE IN AN SRY-NEGATIVE
46,XX MALE WITH ASSOCIATED CONGENITAL ANOMALIES
OF KIDNEYS AND THE URINARY TRACT:
CASE REPORT AND REVIEW OF THE LITERATURE
Tasic V1, Mitrotti A2, Riepe FG3, Kulle AE3, Laban N1, Polenakovic M4,
Plaseska-Karanfilska D4, Sanna-Cherchi S2, Kostovski M1, Gucev Z1,*
*Corresponding Author: Professor Dr. Zoran Gucev, University Children’s Hospital, Medical Faculty
Skopje, ul. Majka Tereza 17, 1000 Skopje, Republic of Macedonia. Mobile: +389-70-279-742.
E-mail: gucevz@ gmail.com
page: 81
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Abstract
Disorders of sex development (DSD) are a group
of rare conditions characterized by discrepancy between
chromosomal sex, gonads and external genitalia. Congenital
abnormalities of the kidney and urinary tract are often
associated with DSD, mostly in multiple malformation
syndromes. We describe the case of an 11-year-old Caucasian
boy, with right kidney hypoplasia and hypospadias.
Genome-wide copy number variation (CNV) analysis revealed
a unique duplication of about 550 kb on chromosome
Xq27, and a 46,XX karyotype, consistent with a sex
reversal phenotype. This region includes multiple genes,
and, among these, SOX3 emerged as the main phenotypic
driver. This is the fifth case reporting a genomic imbalance
involving the SOX3 gene in a 46,XX SRY-negative male,
and the first with associated renal malformations. Our data
provide plausible links between SOX3 gene dosage and
kidney malformations. It is noteworthy that the current and
reported SOX3 gene duplications are below the detection
threshold of standard karyotypes and were found only by
analyzing CNVs using DNA microarrays. Therefore, all
46,XX SRY-negative males should be screened for SOX3
gene duplications with DNA microarrays.
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