Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology, Samsun, Turkey.
Syst Biol Reprod Med. 2013 Feb;59(1):42-7. doi: 10.3109/19396368.2012.731624. Epub 2012 Oct 30.
The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.
46,XX 睾丸性发育障碍（46,XX testicular DSD）是一种与性染色体紊乱相关的罕见表型。我们描述了一名 16 岁和一名 30 岁男性患者的临床、分子和细胞遗传学发现，他们均患有 SRY 阳性 46,XX 睾丸 DSD。染色体分析显示核型为 46,XX。荧光原位杂交（FISH）显示 SRY 区域易位到 X 染色体短臂。聚合酶链反应（PCR）也证实了 SRY 基因的存在。X 染色体失活（XCI）检测表明，两名患者均存在随机的 X 染色体失活模式。本报告比较了 SRY 阳性 46,XX 睾丸性发育障碍患者的症状和特征。
