Uterus didelphys, longitudinal vaginal septum and diminished ovarian reserve in a patient with MYRF-associated disease
- Authors: Tsabai P.N.1, Batyrova Z.K.1, Kumykova Z.K.1, Kovalskaia V.A.1, Sidorchuk M.A.1, Goltsov A.Y.1, Sadelov I.O.1, Tolmacheva E.R.1, Uvarova E.V.1, Sukhikh G.T.1, Trofimov D.Y.1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- Issue: No 4 (2025)
- Pages: 171-177
- Section: Clinical Notes
- URL: https://journals.eco-vector.com/0300-9092/article/view/685498
- DOI: https://doi.org/10.18565/aig.2024.321
- ID: 685498
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Abstract
Background: Congenital abnormalities of female reproductive organs result from the abnormal formation, fusion or resorption of Müllerian ducts during the intrauterine period and can lead to adverse reproductive outcomes. A number of studies have identified a higher incidence of ovarian dysfunction in patients with uterine abnormalities; however, other studies do not support this correlation. Uterine defects are frequently associated with syndromic pathologies; yet the etiology of the most prevalent Müllerian anomalies remains unclear or multifactorial.
Case report: This paper presents a clinical observation of a patient with uterus didelphys, longitudinal vaginal septum and diminished ovarian reserve as part of cardiac-urogenital syndrome caused by a likely pathogenic variant p.Ala440ThrfsTer2 in the MYRF gene. The patient was recommended to consider assisted reproductive technologies with preimplantation genetic testing to prevent the birth of an affected child.
Conclusion: This case illustrates the pleiotropic effect of the MYRF transcription factor. Pathogenic variants in the MYRF gene can impair the development of both Müllerian derivatives and ovaries, and lead to diminished ovarian reserve, which is also accompanied by dysfunction of other organs and systems. MYRF should be considered as a candidate gene for a variety of uterine abnormalities, diminished ovarian reserve and premature ovarian insufficiency in female patients in the presence or absence of extragenital manifestations.
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About the authors
Polina N. Tsabai
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Author for correspondence.
Email: polinatsabai@gmail.com
ORCID iD: 0000-0001-5110-0827
geneticist, M.D., Department of Clinical Genetics
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Zalina K. Batyrova
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: linadoctor@mail.ru
ORCID iD: 0000-0003-4997-6090
gynecologist, M.D., PhD., Department of Pediatric and Adolescent Gynecology
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Zaira Kh. Kumykova
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: zai-kumykova@yandex.ru
ORCID iD: 0000-0001-7511-1432
gynecologist, M.D., PhD., Department of Pediatric and Adolescent Gynecology
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Valeria A. Kovalskaia
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: mikhailova.v.a@mail.ru
ORCID iD: 0000-0002-8728-8574
geneticist, M.D., Department of Clinical Genetics
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Mariia A. Sidorchuk
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: sidorchuk.mariia.98@gmail.com
ORCID iD: 0009-0008-1373-7905
geneticist, M.D., Department of Clinical Genetics
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Andrey Yu. Goltsov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: andrey.goltsov@gmail.com
ORCID iD: 0000-0002-4004-4214
researcher, Laboratory of Molecular Genetic Methods, Institute of Reproductive Genetics
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Igor O. Sadelov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: sadelovigor@gmail.com
ORCID iD: 0000-0001-5916-0672
geneticist at the Laboratory for the Genomic Data Analysis
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Ekaterina R. Tolmacheva
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: tetisae@gmail.com
ORCID iD: 0000-0003-2901-0539
researcher at the Laboratory for the Genomic Data Analysis
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Elena V. Uvarova
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: elena-uvarova@yandex.ru
ORCID iD: 0000-0002-3105-5640
Dr. Med. Sci., Professor, Corresponding Member of RAS, Head of Department of Pediatric and Adolescent Gynecology
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Gennady T. Sukhikh
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: polinatsabai@gmail.com
ORCID iD: 0000-0002-7712-1260
Dr. Med. Sci., Professor, Academician of RAS, Director
Russian Federation, 4, Acad. Oparin str., Moscow, 117997Dmitry Yu. Trofimov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: molgen@bk.ru
ORCID iD: 0000-0002-1569-8486
Dr. Med. Sci., Professor of the RAS, Corresponding Member of RAS, Director of the Institute of Reproductive Genetics
Russian Federation, 4, Acad. Oparin str., Moscow, 117997References
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