KLI

Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trenaunay Syndrome

Metadata Downloads
Abstract
Klippel-Trenaunay 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 PIK3CA 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.
Author(s)
남지나이사라최승아
Issued Date
2021
Type
Article
Keyword
Klippel-Trénaunay syndromeclitorisheavy menstrual bleedinghemangiomapelvic organ prolapsewhole genome sequencing
DOI
10.3390/medicina57040366
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7502
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_880f7766cdfb4d6eab3d5b64e78fe26b&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Clitoromegaly,%20Vulvovaginal%20Hemangioma%20Mimicking%20Pelvic%20Organ%20Prolapse,%20and%20Heavy%20Menstrual%20Bleeding:%20Gynecologic%20Manifestations%20of%20Klippel-Trenaunay%20Syndrome&offset=0&pcAvailability=true
Publisher
MEDICINA-LITHUANIA
Location
스위스
Language
영어
ISSN
1010-660X
Citation Volume
57
Citation Number
4
Citation Start Page
0
Citation End Page
0
Appears in Collections:
Medicine > Medicine
Authorize & License
  • Authorize공개
Files in This Item:
  • There are no files associated with this item.

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.