medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.04.44-48medgen-2285Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTЧастичный блок сперматогенеза у двух носителей робертсоновских транслокаций (14;15)Partial spermatogenic arrest in two Robertsonian (14;15) translocations carriersАндрееваМ. В.AndreevaM. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow, 115522

КурилоЛ. Ф.KuriloL. F.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow, 115522

ШтаутМ. И.ShtautM. I.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow, 115522

ЧерныхВ. Б.ChernykhV. B.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechye st., Moscow, 115522

chernykh@med-gen.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation2023260720232244448Copyright © Андреева М.В., Курило Л.Ф., Штаут М.И., Черных В.Б., 20232023Андреева М.В., Курило Л.Ф., Штаут М.И., Черных В.Б.Andreeva M.V., Kurilo L.F., Shtaut M.I., Chernykh V.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2285

Сбалансированные хромосомные перестройки повышают риск нарушений гаметогенеза и фертильности, частоты анеуплоидии и репродуктивных потерь. Среди мужчин с бесплодием, в особенности с тяжелыми формами нарушения сперматогенеза, частота робертсоновских транслокаций (rob) превышает общепопуляционную, однако механизмы нарушений гаметогенеза у носителей rob недостаточно изучены. Цель: оценить гаметогенез у мужчин-носителей rob(14;15). Обследовали двух мужчин с бесплодием в браке, носителей rob(14;15). Выполняли стандартное спермиологическое исследование и количественный кариологический анализ незрелых половых клеток эякулята. У обоих пациентов диагностирована олигоастенотератозооспермия, вызванная частичным блоком сперматогенеза в профазе I мейоза. Нарушение фертильности у обследованных мужчин-носителей rob(14;15) связано с частичным мейотическим блоком, приводящим к снижению продукции гамет.

Balanced chromosomal rearrangements increase the risk of gametogenesis defects, infertility, aneuploidy rate and reproductive losses. The frequency of Robertsonian translocations (rob) in men with infertility, especially with severe forms of impaired spermatogenesis, is higher than in the general population, but there is lack of understanding of mechanisms of gametogenesis disorders in rob carriers. Purpose: to evaluate gametogenesis in male rob(14;15) carriers.   Two infertile male rob(14;15) carriers were examined. Semen analysis and quantitative karyological analysis of immature germ cells of the ejaculate were performed.  Oligoasthenoteratozoospermia caused by incomplete spermatogenic arrest at the prophase I of meiosis was diagnosed in both patients.   Infertility in two examined rob(14;15) male carriers is associated with incomplete meiotic arrest resulting in decreased gamete production.

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The authors declare that there are no conflicts of interest present.