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Adamyan L.V.

Moscow State Medical and Dental University named after A.I. Evdokimov

Kuznetsova M.V.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Popryaduhin A.Yu.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Pivazyan L.G.

National medical research center for obstetrics, gynecology and perinatology named after academician V.I. Kulakov

Krylova E.I.

I.M. Sechenov First Moscow State Medical University (Sechenov University)

Trofimov D.Yu.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Genetic aspects of malformations of female genital organs: a modern view of the problem

Authors:

Adamyan L.V., Kuznetsova M.V., Popryaduhin A.Yu., Pivazyan L.G., Krylova E.I., Trofimov D.Yu.

More about the authors

Journal: Russian Journal of Human Reproduction. 2023;29(4‑2): 23‑28

DOI: 10.17116/repro20232904223

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Table of contents

GENETIC ASPECTS OF MALFORMATIONS OF FEMALE GENITAL ORGANS: A MODERN VIEW OF THE PROBLEM
GENETIC ASPECTS OF MALFORMATIONS OF FEMALE GENITAL ORGANS: A MODERN VIEW OF THE PROBLEM

To cite this article:

Adamyan LV, Kuznetsova MV, Popryaduhin AYu, Pivazyan LG, Krylova EI, Trofimov DYu. Genetic aspects of malformations of female genital organs: a modern view of the problem. Russian Journal of Human Reproduction. 2023;29(4‑2):23‑28. (In Russ.)
https://doi.org/10.17116/repro20232904223

Подписка 2025-2 (Russian Journal of Human Reproduction)
 
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Mayer—Rokitansky—Küster—Hauser syndrome (MRKH), or Müllerian aplasia, consists of congenital absence of the uterus and vagina. The article presents current data on the role of genetic factors in the malformations of the genital organs. PubMed, Cochrane library, eLibrary databases were searched. As a result of using combinations of keywords: (genetics) AND (MRKH syndrome); 186 articles were identified. 36 papers were selected and their data included in the literature review. As there is a wider adoption of WGS techniques in MRKH studies, it is likely that, in the future, more genes and genetic regions will be identified. Based on this knowledge, the prevention of the syndrome could also be possible through the development of appropriate gene therapy.

Keywords:

genetics
Mayer—Rokitansky—Küster—Hauser syndrome
Müllerian aplasia
uterine aplasia
MRKH

Authors:

Adamyan L.V.

Moscow State Medical and Dental University named after A.I. Evdokimov

Kuznetsova M.V.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Popryaduhin A.Yu.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Pivazyan L.G.

National medical research center for obstetrics, gynecology and perinatology named after academician V.I. Kulakov

Krylova E.I.

I.M. Sechenov First Moscow State Medical University (Sechenov University)

Trofimov D.Yu.

National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov of the Ministry of Healthcare of Russian Federation

Received:

26.06.2023

Accepted:

01.07.2023

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