Han Yu, Wu Jiebin, Tan Fangfang, Sha Jing, Zhang Bei, Zhai Jingfang, Wang Xuezhen
Graduate School of Xuzhou Medical University, Huaihai West Road No. 84, Xuzhou, Jiangsu, China.
Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Jiefang South Road No. 199, Xuzhou, Jiangsu, China.
Case Rep Genet. 2023 Mar 9;2023:9127512. doi: 10.1155/2023/9127512. eCollection 2023.
The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.
具有46, XY核型的女性患者，历史上称为斯维尔综合征，通常分为完全性和部分性性腺发育不全。前者完全由46, XY染色体组成，而后者则是由45, X/46, XY嵌合体导致的。它们都是性染色体疾病，其典型特征是由于胚胎性腺发育为睾丸受到破坏而导致青春期延迟和原发性闭经。在本报告中，我们描述了一名年轻女性，通过核型分析确定为mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48]。进一步的拷贝数变异测序（CNV-seq）和荧光原位杂交（FISH）验证了她的染色体改变。随后进行了性腺切除术和激素替代疗法，随着双侧乳房和子宫的发育，月经周期恢复正常。在此，我们旨在为临床实践中斯维尔综合征患者提供临床管理策略。
