Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Obstetrics and Gynecology
Volume 2018, Article ID 1952351, 4 pages
Case Report

Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome

1Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, FMB307, New Haven, CT 06520, USA
2Montefiore Medical Center, Division of Gynecologic Oncology, Department of Obstetrics & Gynecology and Women’s Health, 1300 Morris Park Avenue, Belfer 501, Bronx, NY 10461, USA
3Department of Pathology, Yale University School of Medicine, 310 Cedar Street, LH 108, New Haven, CT 06520, USA

Correspondence should be addressed to Gregory M. Gressel; moc.liamg@lesserg.yrogerg

Received 1 February 2018; Accepted 27 March 2018; Published 3 May 2018

Academic Editor: Giampiero Capobianco

Copyright © 2018 Olga Grechukhina et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.