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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.886235/full |
| _version_ | 1828355728155344896 |
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| author | Yiding Shen Dongyan Zhao Long Sun Xiuzhen Yang Xiang Yan |
| author_facet | Yiding Shen Dongyan Zhao Long Sun Xiuzhen Yang Xiang Yan |
| author_sort | Yiding Shen |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-14T02:47:14Z |
| format | Article |
| id | doaj.art-ac27a72da9b84538be1cc1beb364bbd2 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-14T02:47:14Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-ac27a72da9b84538be1cc1beb364bbd22022-12-22T02:16:28ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-08-011310.3389/fendo.2022.886235886235Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case reportYiding Shen0Dongyan Zhao1Long Sun2Xiuzhen Yang3Xiang Yan4Department of Urology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Urology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Urology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Ultrasound, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Urology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaCornelia 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.https://www.frontiersin.org/articles/10.3389/fendo.2022.886235/fullCornelia de Lange syndrome (CdLS)urinary tract infection (UTI)vesicoureteral reflux (VUR)vaginal obstructioncase report |
| spellingShingle | Yiding Shen Dongyan Zhao Long Sun Xiuzhen Yang Xiang Yan Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report Frontiers in Endocrinology Cornelia de Lange syndrome (CdLS) urinary tract infection (UTI) vesicoureteral reflux (VUR) vaginal obstruction 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 | Cornelia de Lange syndrome (CdLS) urinary tract infection (UTI) vesicoureteral reflux (VUR) vaginal obstruction case report |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.886235/full |
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