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Case Rep Obstet Gynecol. 2018 May 3;2018:1952351. doi: 10.1155/2018/1952351. eCollection 2018.

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

Author information

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

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.

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