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Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report

Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little information related to female genital abnormalities....

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Autores principales: Shen, Yiding, Zhao, Dongyan, Sun, Long, Yang, Xiuzhen, Yan, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453387/
https://www.ncbi.nlm.nih.gov/pubmed/36093091
http://dx.doi.org/10.3389/fendo.2022.886235
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author Shen, Yiding
Zhao, Dongyan
Sun, Long
Yang, Xiuzhen
Yan, Xiang
author_facet Shen, Yiding
Zhao, Dongyan
Sun, Long
Yang, Xiuzhen
Yan, Xiang
author_sort Shen, Yiding
collection PubMed
description Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little information related to female genital abnormalities. We report a case of classic CdLS with an NIPBL gene pathogenic variant in a 4.5-year-old girl who experienced recurrent urinary tract infections (UTIs) with vesical tenesmus. Urogenital physical and imaging examinations revealed external vaginal orifice obstruction and bilateral vesicoureteral reflux (VUR). Vaginal diaphragm-like tissue resection and vaginal orifice plasty were performed on this patient. The symptoms of urination disorders and recurrent UTIs, as well as VUR grading, improved after relieving the vaginal obstruction during the operation. For female CdLS patients, especially those with VUR, it is necessary to check for genital abnormalities and perform timely treatment, which is of great significance in improving urination disorder symptoms, reducing resistance during voiding, decreasing the occurrence of secondary VUR, and controlling recurrent UTIs.
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spelling pubmed-94533872022-09-09 Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report Shen, Yiding Zhao, Dongyan Sun, Long Yang, Xiuzhen Yan, Xiang Front Endocrinol (Lausanne) Endocrinology Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little information related to female genital abnormalities. We report a case of classic CdLS with an NIPBL gene pathogenic variant in a 4.5-year-old girl who experienced recurrent urinary tract infections (UTIs) with vesical tenesmus. Urogenital physical and imaging examinations revealed external vaginal orifice obstruction and bilateral vesicoureteral reflux (VUR). Vaginal diaphragm-like tissue resection and vaginal orifice plasty were performed on this patient. The symptoms of urination disorders and recurrent UTIs, as well as VUR grading, improved after relieving the vaginal obstruction during the operation. For female CdLS patients, especially those with VUR, it is necessary to check for genital abnormalities and perform timely treatment, which is of great significance in improving urination disorder symptoms, reducing resistance during voiding, decreasing the occurrence of secondary VUR, and controlling recurrent UTIs. Frontiers Media S.A. 2022-08-25 /pmc/articles/PMC9453387/ /pubmed/36093091 http://dx.doi.org/10.3389/fendo.2022.886235 Text en Copyright © 2022 Shen, Zhao, Sun, Yang and Yan https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Shen, Yiding
Zhao, Dongyan
Sun, Long
Yang, Xiuzhen
Yan, Xiang
Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title_full Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title_fullStr Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title_full_unstemmed Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title_short Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
title_sort congenital vaginal obstruction in a female with cornelia de lange syndrome: a case report
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453387/
https://www.ncbi.nlm.nih.gov/pubmed/36093091
http://dx.doi.org/10.3389/fendo.2022.886235
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