Female infertility associated with the FMR1 gene premutation
Savelyeva N.A., Fetisova Yu.A., Baranova E.E.
Background: The FMR1 gene premutation (the number of CGG repeats ranging from 55 to 200) is considered to be an important genetic factor associated with the development of premature ovarian failure (POF), decreased ovarian reserve and impaired reproductive function in women. Despite the extremely low levels of anti-Müllerian hormone (AMH) and the presence of severe symptoms of hypoestrogenism, there is a possibility of spontaneous pregnancy in some cases. This requires an individual approach and timely genetic counseling.
Case report: This was an observation of a 27-year-old patient with the FMR1 premutation (34-94 CGG repeats), AMH level of 0.01 ng/ml and severe ovarian hypoplasia revealed by ultrasound scanning of the pelvic organs. After undergoing hormone replacement therapy (HRT) and ovulation stimulation, the patient became pregnant and her pregnancy resulted in timely delivery of a girl.
Conclusion: This clinical observation emphasizes the importance of a personalized approach to the management of patients with FMR1 gene mutation. The aim of this approach is not only to control hypoestrogenism, but also to achieve conception using modern opportunities of assisted reproduction and fertility preservation programs.
Authors’ contributions: Savelyeva N.A. – literature review, clinical management of the patient, writing the text of the article; Fetisova Yu.A., Baranova E.E. – editing the article.
Conflicts of interest: The authors declare no possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Patients’ Consent for Publication: The patient signed informed consent for the publication of her data.
For citation: Savelyeva N.A., Fetisova Yu.A., Baranova E.E. Female infertility associated with the FMR1 gene premutation.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (11): 190-194 (in Russian)
https://dx.doi.org/10.18565/aig.2025.126
Keywords
References
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Received 14.05.2025
Accepted 08.08.2025
About the Authors
Natalia A. Savelyeva, PhD, gynecologist-reproductologist, E.G. Lebedeva Center for Innovative Reproductive Technologies, MD GROUP Clinical Hospital,117209, Russia, Moscow, Sevastopolsky Ave., 24/1, n.saveleva@mcclinics.ru, https://orcid.org/0000-0001-9719-9447
Yulia A. Fetisova, Head of the E.G. Lebedeva Center for Innovative Reproductive Technologies, MD GROUP Clinical Hospital,
117209, Russia, Moscow, Sevastopolsky Ave., 24/1.
Elena E. Baranova, PhD, Associate Professor, Department of Fundamental Disciplines, MGIMO-MED Medical University,
143007, Russia, Moscow Region, Odintsovo, Novosportivnaya str., 3.
Corresponding author: Natalya A. Savelyeva, n.saveleva@mcclinics.ru



