IMR Press / CEOG / Volume 47 / Issue 3 / DOI: 10.31083/j.ceog.2020.03.5068
Open Access Case Report
A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies
Show Less
1 Department of Endocrinology, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
2 National Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom”, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
3 Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
4 Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria
*Correspondence: (RALITSA ROBEVA)
Clin. Exp. Obstet. Gynecol. 2020, 47(3), 409–411;
Submitted: 10 November 2018 | Accepted: 24 January 2019 | Published: 15 June 2020
Copyright: © 2020 Robeva et al. Published by IMR press.
This is an open access article under the CC BY 4.0 license

Introduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the development of POI. Bone morphogenetic protein 15 (BMP15) genetic variants have been associated with diminished ovarian reserve and subfertility in animals and humans. Materials and Methods: Herein, the authors present a 34-year-old Caucasian woman with normal pubertal development, one uncomplicated pregnancy and two spontaneous pregnancies after POI diagnosis. Results: A very rare variant c.269T>C (p.Ile90Thr) in exon 1 of the BMP15 gene was detected. Conclusions: The proper differentiation between genetic variants associated with premature ovarian ageing and mutations that can attribute to irreversible early gonadal impairments is an important task of future studies.

Premature ovarian insufficiency
BMP15 genetic variants
Grant 2016, Project 360/2016
Contract 92/2016/Medical University Sofia
Figure 1.
Back to top