medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.12.3-11medgen-1999Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWРепродуктивный статус и фертильность у мужчин с трисомией 21The state of the reproductive system and fertility in men with trisomy 21АндрееваМ. В.AndreevaM. V.noemail@neicon.ruЧерныхВ. Б.ChernykhV. B.noemail@neicon.ruКурилоЛ. Ф.KuriloL. F.kurilo@med-gen.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticRussian Federation2021080220222012311Copyright © Андреева М.В., Черных В.Б., Курило Л.Ф., 20222022Андреева М.В., Черных В.Б., Курило Л.Ф.Andreeva M.V., Chernykh V.B., Kurilo L.F.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/1999

Трисомия по хромосоме 21 или синдром Дауна (СД) является одной из наиболее частых хромосомных болезней. В настоящее время средняя продолжительность жизни и уровень социальной адаптации больных с СД возрастают, и некоторые такие пациенты создают свои семьи. В связи с этим становится актуальным изучение состояния репродуктивной системы, гаметогенеза и фертильности пациентов с СД. Спектр клинических проявлений трисомии 21 может варьировать. Для мужчин с СД характерны тяжелые нарушения сперматогенеза, гипогонадизм, снижение либидо и эректильная дисфункция, в связи с чем пациенты с СД долгое время считались бесплодными. Однако опубликовано несколько сообщений о наступлении беременности и рождении здоровых детей от таких мужчин. В связи с высоким риском возникновения анеуплоидии у потомства, а также этическими и социальными проблемами деторождения у таких пациентов необходимо консультирование больных СД и их опекунов по вопросам фертильности и контрацепции.

Trisomy 21 or Down syndrome (DS) is one of the most common chromosome abnormalities. Currently, the average life expectancy and social adaptation of DS patients are increasing, and some of them start their own families. Hence, it important to study the state of the reproductive system, gametogenesis and fertility of patients with DS. The spectrum of clinical manifestations of trisomy 21 varies significantly. Men with DS often have severe defects of spermatogenesis, hypogonadotropic hypogonadism, decreased libido and erectile dysfunction, and therefore patients with DS have long been considered infertile. However, there are several reports about the onset of pregnancy and the birth of healthy children from these patients. Due to the high risk of aneuploidy in offspring, as well as ethical and social problems of childbearing, fertility and contraception counseling recommended for DS patients and their guardians.

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