Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome
Background. Bardet-Biedl Syndrome (BBS) is a rare genetic condition characterized by cognitive impairment, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities. Although some of these characteristics are known independent risk factors for endometrial cancer and its precurso...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2018/1952351 |
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| author | Olga Grechukhina Gregory M. Gressel William Munday Serena Wong Alessandro Santin Alla Vash-Margita |
| author_facet | Olga Grechukhina Gregory M. Gressel William Munday Serena Wong Alessandro Santin Alla Vash-Margita |
| author_sort | Olga Grechukhina |
| collection | DOAJ |
| description | Background. Bardet-Biedl Syndrome (BBS) is a rare genetic condition characterized by cognitive impairment, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities. Although some of these characteristics are known independent risk factors for endometrial cancer and its precursors, the association between BBS and endometrial cancer is underreported. Case. We present the case of a 26-year-old patient with BBS and clinical signs of hyperestrogenism who presented with abnormal uterine bleeding and was diagnosed with endometrioid adenocarcinoma. She ultimately underwent definitive surgical treatment with hysterectomy and bilateral salpingectomy. Conclusions. This is one of only a few reports in the literature describing the association of BBS and endometrioid endometrial adenocarcinoma. Given the association of BBS with risk factors for hyperestrogenism such as truncal obesity, hyperinsulinemia, and ovulatory dysfunction, providers should have increased suspicion for endometrial cancer in young patients with BBS and abnormal uterine bleeding. |
| format | Article |
| id | doaj-art-386d5a4d6b4343c2a5559e74dd5d39bf |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-386d5a4d6b4343c2a5559e74dd5d39bf2025-02-03T06:00:59ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922018-01-01201810.1155/2018/19523511952351Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl SyndromeOlga Grechukhina0Gregory M. Gressel1William Munday2Serena Wong3Alessandro Santin4Alla Vash-Margita5Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, FMB307, New Haven, CT 06520, USAMontefiore Medical Center, Division of Gynecologic Oncology, Department of Obstetrics & Gynecology and Women’s Health, 1300 Morris Park Avenue, Belfer 501, Bronx, NY 10461, USADepartment of Pathology, Yale University School of Medicine, 310 Cedar Street, LH 108, New Haven, CT 06520, USADepartment of Pathology, Yale University School of Medicine, 310 Cedar Street, LH 108, New Haven, CT 06520, USADepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, FMB307, New Haven, CT 06520, USADepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, FMB307, New Haven, CT 06520, USABackground. Bardet-Biedl Syndrome (BBS) is a rare genetic condition characterized by cognitive impairment, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities. Although some of these characteristics are known independent risk factors for endometrial cancer and its precursors, the association between BBS and endometrial cancer is underreported. Case. We present the case of a 26-year-old patient with BBS and clinical signs of hyperestrogenism who presented with abnormal uterine bleeding and was diagnosed with endometrioid adenocarcinoma. She ultimately underwent definitive surgical treatment with hysterectomy and bilateral salpingectomy. Conclusions. This is one of only a few reports in the literature describing the association of BBS and endometrioid endometrial adenocarcinoma. Given the association of BBS with risk factors for hyperestrogenism such as truncal obesity, hyperinsulinemia, and ovulatory dysfunction, providers should have increased suspicion for endometrial cancer in young patients with BBS and abnormal uterine bleeding.http://dx.doi.org/10.1155/2018/1952351 |
| spellingShingle | Olga Grechukhina Gregory M. Gressel William Munday Serena Wong Alessandro Santin Alla Vash-Margita Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome Case Reports in Obstetrics and Gynecology |
| title | Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome |
| title_full | Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome |
| title_fullStr | Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome |
| title_full_unstemmed | Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome |
| title_short | Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome |
| title_sort | endometrial carcinoma in a 26 year old patient with bardet biedl syndrome |
| url | http://dx.doi.org/10.1155/2018/1952351 |
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