medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.12.53-57medgen-2004Research ArticleКРАТКИЕ СООБЩЕНИЯBRIEF REPORTСперматологические нарушения у мужчин-носителей робертсоновских транслокацийSpermatological defects in male with robertsonian translocationsАндрееваМ. В.AndreevaM. V.noemail@neicon.ruКурилоЛ. Ф.KuriloL. F.noemail@neicon.ruСорокинаТ. М.SorokinaT. M.noemail@neicon.ruСолововаО. А.SolovovaO. A.noemail@neicon.ruЧерныхВ. Б.ChernykhV. B.chernykh@med-gen.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»; ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М. Ф. Владимирского»РоссияResearch Centre for Medical Genetic; Moscow Regional Research and Clinical Institute (MONIKI)Russian Federation20210802202220125357Copyright © Андреева М.В., Курило Л.Ф., Сорокина Т.М., Соловова О.А., Черных В.Б., 20222022Андреева М.В., Курило Л.Ф., Сорокина Т.М., Соловова О.А., Черных В.Б.Andreeva M.V., Kurilo L.F., Sorokina T.M., Solovova O.A., 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/2004

Введение. Робертсоновские транслокации (РТ) являются наиболее частым типом сбалансированных структурных перестроек. Носители РТ имеют повышенный риск нарушений репродукции (бесплодия и невынашивания, рождения детей с хромосомными аномалиями/МВПР), но механизмы нарушений гаметогенеза и фертильности у них недостаточно изучены. Цель: оценить состояние, параметры эякулята и прохождение мейоза у мужчин-носителей РТ. Методы. Обследована группа из 21 мужчины с бесплодием в браке, являющихся носителями РТ: rob(13;14) (n=16), rob(13;15) (n=3), rob(13;21) (n=1) и rob(14;15) (n=1). Кариотип определен при стандартном цитогенетическом исследовании с использованием GTG-окрашивания. Всем пациентам выполняли спермиологический анализ, пяти пациентам с РТ(13;14) выполнен количественный кариологический анализ незрелых половых клеток эякулята (ККА НПК). Результаты. У всех обследованных мужчин выявлены сперматологические нарушения, при этом преобладают тяжелые формы патозооспермии: олигоастенотератозооспермия (81%, n=17) и азооспермия (14%, n=3), у одного пациента (5%) обнаружена астенотератозооспермия. ККА НПК позволил выявить механизм нарушения сперматогенеза - частичный блок на допахитенных стадиях и в пахитене профазы I мейоза при олигозооспермии. При нормальной концентрации сперматозоидов блок сперматогенеза в профазе I мейоза не обнаружен. Заключение. Нарушение фертильности у обследованных мужчин-носителей РТ связано с патозооспермией и у большинства пациентов вызвано частичным блоком сперматогенеза в профазе I мейоза, приводящим к снижению количества сперматозоидов (олигозооспермии) или их отсутствию (азооспермии).

Introduction. Robertsonian translocations (RT) are the most common balanced chromosomal abnormalities. RT carriers may have an increased risk of reproductive disorders (infertility, pregnancy loss and chromosomal abnormalities/multiple congenital abnormalities in offspring), but the mechanisms of gametogenesis and fertility disorders are still under consideration. Aim: to evaluate semen parameters and meiosis in infertile male RT carriers. Methods. 21 men from infertile couples, RT carriers, were examined: rob(13;14), (n=16), rob(13;15) (n=3), rob(13;21) (n=1) and rob(14;15) (n=1). Chromosome analysis was performed according to a standard cytogenetic procedure using GTG staining. Semen analysis was done for all the patients, and for 5 patients with RT (13;14) quantitative karyological analysis of immature germ cells was done (QKA IGC). Results. Abnormal semen parameters were detected in all the men examined, with severe forms of pathozoospermia prevailing: oligoastenotheratozoospermia (81%, n=17) and azoospermia (14%, n=3); asthenotheratozoospermia was detected in one patient (5%). The QKA IGC revealed the mechanism of spermatogenesis failure - a partial arrest of spermatogenesis at the pre- pachytene stages and in the pachytene of prophase I of meiosis in oligozoospermic samples; and the absence of meiotic arrest in semen with normal sperm concentration. Conclusions. Subfertility in examined male RT carriers is associated with pathozoospermia and in most patients is caused by a partial arrest of spermatogenesis in prophase I of meiosis, which leads to a decrease in the number of spermatozoa (oligozoospermia) or their absence (azoospermia).

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