medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.03.3-11medgen-2451Research ArticleНАУЧНЫЙ ОБЗОРREVIEWСбалансированные Х-аутосомные транслокации и мужское бесплодиеBalanced X-autosome translocations and male infertilityАндрееваМ. В.AndreevaM. V.

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

1, Moskvorechye st., Moscow 115522

КурилоЛ. Ф.KuriloL. F.

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

1, Moskvorechye st., Moscow 115522

ЧерныхВ. Б.ChernykhV. B.

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

1, Moskvorechye st., Moscow 115522

chernykh@med-gen.ruФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation202412072024233311Copyright © Андреева М.В., Курило Л.Ф., Черных В.Б., 20242024Андреева М.В., Курило Л.Ф., Черных В.Б.Andreeva M.V., Kurilo L.F., 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/2451

У мужчин с нарушениями репродуктивной функции частота сбалансированных хромосомных перестроек выше, чем в общей популяции. Транслокации с вовлечением половых хромосом (гоносом) зачастую имеют негативное влияние на сперматогенез и мужскую фертильность. Вне зависимости от локализации точек разрывов на Х-хромосоме, у мужчин-носителей Х-аутосомных (Х;А) транслокаций обнаруживают тяжелые нарушения сперматогенеза, приводящие к необструктивной азооспермии или тяжелой олигозооспермии. Нарушение фертильности у мужчин с Х;А транслокациями обусловлено мейотическим блоком сперматогенеза. У пациентов с частично сохранным сперматогенезом обнаружена повышенная частота анеуплоидии в гаметах. Решение проблемы бесплодия у данных пациентов возможно с помощью вспомогательных репродуктивных технологий (ЭКО/ ИКСИ) с преимплантационным генетическим тестированием.

In men with reproductive disorders, the frequency of balanced chromosomal rearrangements is higher than in the general population. Sex chromosomes (gonosomes) translocations often have a negative impact on spermatogenesis and male fertility. Regardless of the position of the breakpoint in the X chromosome, in male carriers of X-autosome (X;A) translocations severe disorders of spermatogenesis leading to non-obstructive azoospermia or severe oligozoospermia are detected. Impaired fertility in men with X;A translocations is caused by a meiotic arrest of spermatogenesis. In patients with partially preserved spermatogenesis, an increased rate of aneuploidy in gametes was found. Infertility treatment in such patients is possible with the assisted reproductive techniques (IVF/ICSI) with preimplantation genetic testing of embryos.

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