SOX9 上游重复与 46,XX 卵睾性生殖器发育障碍相关：病例报告。
A Duplication Upstream of SOX9 Associated with Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report.
机构信息
Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey
出版信息
J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):308-314. doi: 10.4274/jcrpe.galenos.2019.2019.0101. Epub 2019 Sep 3.
The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD.
46,XX 卵睾性性发育障碍（DSD）在人类中很少见。这种疾病通常表现为生殖器模糊，在不同的性腺或同一性腺中存在卵巢和睾丸组织。几乎没有 46,XX 卵睾性 DSD 患者存在 Y 染色体性别决定区（SRY）基因。已知 SRY 相关高迁移率族蛋白 9（SOX9）的过度表达是在没有 SRY 的情况下导致 SRY 阴性 46,XX 卵睾性 DSD 的原因。在这里，我们分析了我们的 SRY 阴性 46,XX 卵睾性 DSD 病例。在使用来自患者外周血样本的阵列比较基因组杂交研究中，在包含 SOX9 的 17q24.3 区域中检测到 1114 kb 的重复（Hg19 坐标：chr17:69006280-70120619）。这是首例来自土耳其的病例，表现为 SRY 阴性 46,XX 卵睾性 DSD 中的 SOX9 重复。
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