problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl12666problendo-12666Research ArticleДетская эндокринологияPediatric EndocrinologyСиндром Клайнфельтера: обзор литературы по использованию современных методов вспомогательных репродуктивных технологийKlinefelter syndrome: literature review on using modern methods of assisted reproductive technologieshttps://orcid.org/0000-0002-9124-294XВоронцоваМ. В.VorontsovaM. V.

Воронцова Мария Владимировна - кандидат медицинских наук.117036, Москва, ул. Дм. Ульянова, д. 11eLibrary SPIN: 4168-6851

Maria V. Vorontsova - MD, PhD/11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 4168-6851

maria.vorontsova.endo@gmail.comhttps://orcid.org/0000-0002-2000-7694КалинченкоН. Ю.KalinchenkoN. Yu.

Калинченко Наталья Юрьевна - кандидат медицинских наук.117036, Москва, ул. Дм. Ульянова, д. 11eLibrary SPIN: 6727-9653

Natalia Yu. Kalinchenko - MD, PhD.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 6727-9653

kalinnat@rambler.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2020301220206663138Copyright © Воронцова М.В., Калинченко Н.Ю., 20202020Воронцова М.В., Калинченко Н.Ю.Vorontsova M.V., Kalinchenko N.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/12666

В статье представлен обзор научных работ, посвященных проблеме репродуктивного здоровья мужчин с синдромом Клайнфельтера (СК) с позиции патогенеза, возможности обеспечения биологического отцовства и риска возникновения хромосомных аномалий у потомства. Освещены известные на сегодняшний день обстоятельства развития патологического состояния гонад с внутриутробного периода развития.Несмотря на то что СК является одной из наиболее частых причин мужского бесплодия, ассоциированного с хромосомными аномалиями, ввиду вариабельности клинических проявлений данного заболевания до широкого внедрения неинвазивного пренатального тестирования доля пациентов, выявленных до наступления пубертата, не превышала 10%. Cогласно приведенным в статье результатам исследований, репродуктивный потенциал у мужчин с СК зачастую снижен уже в период раннего детства, что целесообразно учитывать при выборе дальнейшей тактики ведения пациентов.В литературе имеются данные о единичных случаях наступления спонтанной беременности от мужчин с СК, в связи с чем обеспечение биологического отцовства у данной группы пациентов зачастую возможно лишь путем применения хирургических методов экстракции сперматозоидов и вспомогательных репродуктивных технологий. В статье подробно рассмотрены такие методы, как хирургическая экстракция сперматозоидов (testicular sperm extraction, TESE) и микрохирургическая экстракция сперматозоидов (microdissection testicular sperm extraction, mTESE) с позиции их эффективности и безопасности для пациента, а также представлены факторы, потенциально способные повлиять на исход операции. Оптимальным периодом проведения названных манипуляций является возраст пациента от 18 до 30 лет, а применение перечисленных хирургических методов у подростков вызывает бурные дискуссии.Проанализированные в статье результаты исследований позволяют предположить, что риск передачи хромосомных аномалий потомству является, скорее, низким, что, однако, не исключает необходимости проведения медико-генетического консультирования, а также предимплантационной или внутриутробной диагностики.

The article reviews scientific papers devoted to the problem of reproductive health in men with Klinefelter syndrome (KS). Pathogenesis from a very early age (in utero), the possibility of ensuring biological paternity upon reaching sexual maturity and the risk of chromosomal abnormalities in offspring are discussed. Despite the fact that KS is one of the most common causes of male infertility associated with chromosomal abnormalities, due to the variability of clinical manifestations the proportion of patients identified before puberty did not exceed 10% before the widespread introduction of non-invasive prenatal testing. According to the research results presented in the article, the reproductive potential of males with KS is often already reduced in early childhood. These circumstances should be considered when choosing further patient management tactics.There are few reports on the onset of spontaneous pregnancy in the case of KS, so ensuring biological paternity in this group of patients is often possible only using surgical methods of sperm extraction and assisted reproductive technologies. This article discusses methods like testicular sperm extraction (TESE) and microdissection testicular sperm extraction (mTESE) in terms of their effectiveness and safety for the patient, and the factors influencing the outcome of the operation. The optimal period of these manipulations seems to be the patient’s age from 18 to 30 years, although the feasibility of adolescent boys undergoing the aforementioned procedures is highly controversial.The research papers presented in the article suggest that the risk of transmitting chromosomal abnormalities to offspring is rather low, which does not exclude the need for medical and genetic counseling to explain all possible risks to the patient. Preimplantation or intrauterine diagnostics are also deemed necessary.

 

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