Unexplained infertility: controversies in diagnosis and management

Perminova S.G., Ishchuk M.P., Mituyrina E.V.

Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, Moscow, Russia

Unexplained infertility (UI) is a complex issue in the field of modern reproductive medicine, characterized by the absence of an evident cause of infertility after a thorough examination of the couple. The absence of a precise definition of UI, understanding of the mechanisms of its development, and recommendations for optimal diagnosis and management of couples with UI results in empirical and often ineffective treatment. International consensus identified UI as one of 10 priority areas for future research. The review presents a discussion of issues concerning the definition and prevalence of UI, as well as the diagnosis and management of couples with UI, including assisted reproduction. A particular focus is given to studies that investigate the association between structural abnormalities of specific genes involved in the regulation of folliculogenesis, oocyte maturation, and early embryogenesis, and impaired fertility in couples with UI.     
Conclusion: Impaired oocyte maturation, fertilization, embryo development and implantation are characteristic of patients diagnosed with UI. This impaired reproductive process results in a low efficacy of treatment in IVF programs. There is no common understanding of the relationship between structural abnormalities of specific genes and fertility disorders in patients with UI, which makes it necessary to continue scientific research in this direction to clarify the pathogenesis and develop optimal tactics to overcome UI.

Authors’ contributions: Perminova S.G., Mituyrina E.V. – developing the concept of the article, analysis of literature data, editing the text; Ishchuk M.P. – literature search and analysis, processing of source material, writing the text of manuscript.
Conflicts of interest: The authors declare no possible conflicts of interest.
Funding: The study was conducted without sponsorship.
For citation: Perminova S.G., Ishchuk M.P., Mituyrina E.V. 
Unexplained infertility: controversies in diagnosis and management.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (1): 27-34 (in Russian)
https://dx.doi.org/10.18565/aig.2024.327

Keywords

unexplained infertility
idiopathic infertility
in vitro fertilization
assisted reproductive technologies
whole-exome sequencing

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Received 19.12.2024

Accepted 27.12.2024

About the Authors

Svetlana G. Perminova, Dr. Med. Sci., Leading Researcher, Scientific and Clinical Department of ART named after F. Paulsen, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, s_perminova@oparina4.ru,
https://orcid.org/0000-0003-4438-1354
Maria P. Ishchuk, PhD student, Scientific and Clinical Department of ART named after F. Paulsen, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, m_ischuk@oparina4.ru, https://orcid.org/0000-0002-9577-1777
Elena V. Mituyrina, Dr. Med. Sci., Senior Researcher, Scientific and Clinical Department of ART named after F. Paulsen, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, 117997, Russia, Moscow, Ac. Oparin str., 4, e_mityurina@oparina4.ru,
https://orcid.org/0000-0001-8830-2158

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