Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome
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...
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MDPI AG
2021-04-01
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| Online Access: | https://www.mdpi.com/1648-9144/57/4/366 |
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| author | Gina Nam Sa Ra Lee SeungA Choi |
| author_facet | Gina Nam Sa Ra Lee SeungA Choi |
| author_sort | Gina Nam |
| collection | DOAJ |
| description | 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 <i>PIK3CA</i> 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. |
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| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-10T12:29:05Z |
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| spelling | doaj.art-880f7766cdfb4d6eab3d5b64e78fe26b2023-11-21T14:48:52ZengMDPI AGMedicina1010-660X1648-91442021-04-0157436610.3390/medicina57040366Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay SyndromeGina Nam0Sa Ra Lee1SeungA Choi2Department of Obstetrics and Gynecology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, 102, Heukseok-ro, Dongjak-gu, Seoul 06973, KoreaDepartment of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaDepartment of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaKlippel-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 <i>PIK3CA</i> 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.https://www.mdpi.com/1648-9144/57/4/366Klippel-Trénaunay syndromeclitorishemangiomapelvic organ prolapseheavy menstrual bleedingwhole genome sequencing |
| spellingShingle | Gina Nam Sa Ra Lee SeungA Choi Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome Medicina Klippel-Trénaunay syndrome clitoris hemangioma pelvic organ prolapse heavy menstrual bleeding whole genome sequencing |
| title | Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome |
| title_full | Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome |
| title_fullStr | Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome |
| title_full_unstemmed | Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome |
| title_short | Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Trénaunay Syndrome |
| title_sort | clitoromegaly vulvovaginal hemangioma mimicking pelvic organ prolapse and heavy menstrual bleeding gynecologic manifestations of klippel trenaunay syndrome |
| topic | Klippel-Trénaunay syndrome clitoris hemangioma pelvic organ prolapse heavy menstrual bleeding whole genome sequencing |
| url | https://www.mdpi.com/1648-9144/57/4/366 |
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