Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. (3rd May 2018)

• Record Type: Journal Article
• Authors: Grechukhina, Olga; Gressel, Gregory M.; Munday, William; Wong, Serena; Santin, Alessandro; Vash-Margita, Alla
• Other Names: Capobianco Giampiero Academic Editor.
• Is Part Of: Case reports in obstetrics and gynecology. Volume 2018(2018)
• Publication Date: 2018-05-03
• Subjects: Obstetrics -- Periodicals; Gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; Obstetrics; Gynecology; Genital Diseases, Female; Generative organs, Female -- Diseases; Gynecology; Obstetrics; Electronic journals; Periodicals; Periodicals; 618
• DOI: 10.1155/2018/1952351
• Languages: English
• ISSNs: 2090-6684

Abstract

Abstract : 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.