Obstetrics and GynecologyObstetrics and GynecologyАкушерство и гинекология0300-90922412-5679Bionika Media24814910.18565/aig.2018.3.22-28ArticlesСтатьиResearch ArticleThe role of the FMR1 gene in the development of reproductive and neurological disordersРоль гена FMR1 в развитии репродуктивной и неврологической патологииMarchenkoLarisa AndreevnaМарченкоЛариса Андреевна

MD, Professor, Leading Researcher of the Department of Gynecological Endocrinology

д.м.н., профессор, ведущий научный сотрудник отделения гинекологической эндокринологии

l.a.marchenko@yandex.ruRshtuniSandra JonievnaРштуниСандра Джониевна

post-graduate student of gynecological endocrinology department

аспирант отделения гинекологической эндокринологии

rshtunisandra@gmail.comZaretskayaNadezhda VasilievnaЗарецкаяНадежда Васильевна

Ph.D., Senior Researcher, Department of Reproductive Genetics Laboratory

к.м.н., старший научный сотрудник отделения лаборатории репродуктивной генетики

n_zaretskaya@oparina4.ruPikhutPetr PetrovichПихутПетр Петрович

resident of the 2nd year of training

ординатор 2-го года обучения

pit-petad@mail.ruMashaevaRoza IsstanovnaМашаеваРоза Истановна

post-graduate student of the department of gynecological endocrinology

аспирант отделения гинекологической эндокринологии

mashaevarosa@gmail.comResearch Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of RussiaФГБУ НЦАГиП им. академика В.И. Кулакова Минздрава России150320183NO3 (2018)№3 (2018)222818022023Copyright ©; 2018, Bionika MediaCopyright ©; 2018, ООО «Бионика Медиа»2018Bionika MediaООО «Бионика Медиа»https://journals.eco-vector.com/0300-9092/article/view/248149

Objective. To carry out a systematic analysis of the data available in the current literature on the role of the FMR1 gene in the development of reproductive and somatic diseases in mutation carriers and their offspring. Material and methods. The review includes the data of foreign and Russian articles published in in the past 10 years and found in Pubmed on this topic. Results. This review discusses a set of phenotypic, reproductive, and neurological disorders, which is coupled with the abnormal number of CGG repeats in the FMR1 gene. Conclusion. The development of new methods for assessing the ovarian reserve is one of the priority scientific and practical tasks in gynecological endocrinology and reproductology. To date, there are no clear hormonal and ultrasound screening tests that can predict premature termination of ovarian function, unlike the FMR1 gene.

Цель исследования. Провести систематический анализ данных, имеющихся в современной литературе, о роли гена FMR1 в развитии репродуктивной и соматической патологии у носителей мутации и их потомства. Материал и методы. Включены данные зарубежных и отечественных статей, найденных в Pubmed по данной теме, опубликованных за последние 10 лет. Результаты. Обсуждается сопряженная с аномальным числом CGG повторов в гене FMR1 совокупность фенотипических, репродуктивных и неврологических нарушений. Заключение. Разработка новых методов оценки яичникового резерва относится к одной из приоритетных научных и практических задач в гинекологической эндокринологии и репродуктологии. На сегодняшний день не существует четких гормональных и УЗ-скрининговых тестов, позволяющих предсказать преждевременное выключение функции яичников в отличии от гена FMR1.

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