Nam Gina, Lee Sa Ra, Choi SeungA
Department of Obstetrics and Gynecology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, 102, Heukseok-ro, Dongjak-gu, Seoul 06973, Korea.
Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.
Medicina (Kaunas). 2021 Apr 9;57(4):366. doi: 10.3390/medicina57040366.
Klippel-Trénaunay Syndrome (KTS) is a genetic vascular malformation involving the capillary, lymphatic, and venous channels. Prenatal sonographic diagnosis of KTS with an enlarged fetal limb is well-known; however, postnatal gynecologic manifestations are rarely reported. KTS can cause clitoromegaly, vulvovaginal hemangioma, and heavy menstrual bleeding. Somatic mosaicism of the gene is considered as responsible for KTS but reports based on whole-genome sequencing are limited. A 31-year-old woman with KTS presented with bulging of the clitoris and vagina. Analysis of whole-genome sequencing variant data revealed that gene ontology terms related to development and differentiation such as 'skeletal system morphogenesis', 'embryonic morphogenesis', and 'sensory organ development' were nominally significant in non-coding regions. Variants in non-coding genes may be responsible for this phenotype.
克-特综合征（KTS）是一种涉及毛细血管、淋巴管和静脉通道的遗传性血管畸形。产前超声诊断胎儿肢体增大的KTS是众所周知的；然而，产后妇科表现很少有报道。KTS可导致阴蒂肥大、外阴阴道血管瘤和月经过多。该基因的体细胞镶嵌现象被认为是KTS的病因，但基于全基因组测序的报告有限。一名31岁患有KTS的女性出现阴蒂和阴道膨出。全基因组测序变异数据分析显示，与发育和分化相关的基因本体术语，如“骨骼系统形态发生”、“胚胎形态发生”和“感觉器官发育”，在非编码区具有显著意义。非编码基因中的变异可能是这种表型的原因。
