medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.12.40-52medgen-2003Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEДелеция региона AZFb хромосомы Y у пациента с олигозооспермией: клиническое наблюдение и обзор литературыAZFb region deletions of Y chromosome in oligozoospermic patient: clinical case and reviewРыжковА. И.RyzhkovA. I.1129682@gmail.comШормановИ. С.ShormanovI. S.noemail@neicon.ruВорчаловМ. М.VorchalovM. M.noemail@neicon.ruСоколоваС. Ю.SokolovaS. Y.noemail@neicon.ruДыбинА. В.DybinA. V.noemail@neicon.ruЧерныхВ. Б.ChernykhV. B.noemail@neicon.ruЯрославский государственный медицинский университетРоссияYaroslavl State Medical UniversityRussian FederationКлиника «Мать и Дитя Ярославль»РоссияMother and Child Clinic YaroslavlRussian FederationЯрославский областной перинатальный центрРоссияYaroslavl Regional Perinatal CenterRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticRussian Federation20210802202220124052Copyright © Рыжков А.И., Шорманов И.С., Ворчалов М.М., Соколова С.Ю., Дыбин А.В., Черных В.Б., 20222022Рыжков А.И., Шорманов И.С., Ворчалов М.М., Соколова С.Ю., Дыбин А.В., Черных В.Б.Ryzhkov A.I., Shormanov I.S., Vorchalov M.M., Sokolova S.Y., Dybin A.V., 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/2003

Микроделеции хромосомы Y в локусе Yq11.2/AZF («фактор азооспермии») являются частой генетической причиной мужского бесплодия, связанного с азооспермией и олигозооспермией. Для делеций, целиком захватывающих регион AZFb, характерна азооспермия вследствие тяжелых нарушений сперматогенеза (блок профазы I мейоза, синдром «только клетки Сертоли»). При этом невозможно получить сперматозоиды, пригодные для искусственного оплодотворения ни из эякулята, ни из биоптата яичка. В статье представлены результаты обследования мужчины с первичным бесплодием и олигоастенотератозооспермией тяжелой степени, имеющего микроделецию Y-хромосомы в регионе AZFb. При стандартном цитогенетическом исследовании выявлен нормальный мужской кариотип (46,XY). Мультиплексная ПЦР выявила отсутствие локусов sY127, sY134 и sY142, что характерно для полных делеций AZFb. Хромосомный микроматричный анализ позволил установить, что делеция имела размер 3,5 млн п.н. и располагалась в локусах Yq11.222-q11.223 (20.583.738-24.094.882), частично захватывая регион AZFb. По-видимому, делеция возникла в результате несбалансированной рекомбинации ампликонов b1 и b5. В литературе описаны единичные случаи частичного сохранения сперматогенеза и олигозооспермии у мужчин с разными типами делеций AZFb. Представленное клиническое наблюдение и ранее описанные случаи частичного сохранения сперматогенеза у некоторых пациентов с микроделециями хромосомы Y свидетельствуют о возможности получения сперматозоидов, пригодных для ЭКО/ИКСИ, у некоторых пациентов с частичными и полными делециями AZFb и AZFb+c. В связи с этим, а также возможностью ложноположительных и/или неправильно определенных типов микроделеций хромосомы Y необходимо выполнять верификацию делеций AZF с определением их типа/подтипа.

Y chromosome microdeletions in the AZF/Yq11.2 locus («azoospermia factor») are a common genetic cause of male infertility associated azoospermia and severe oligozoospermia. Complete AZFb region deletions are characterized by azoospermia due to severe spermatogenesis defects (meiotic arrest at prophase I and Sertoli cell-only syndrome), while it is impossible to obtain sperm suitable for in vitro fertilization, neither from the ejaculate, no from testicular biopsy. This article describes severe oligoastenoteratozoospermic patient with distal AZFb region deletion. According to the results of chromosome analysis, the patient had a normal male karyotype (46,XY). Multiplex PCR revealed an absence of sY127, sY134 и sY142 loci, that is characteristic for complete AZFb deletion. High-resolution array comparative genomic hybridization (arrayCGH) allowed to detect CNV (copy number variant) in Yq11.222-q11.223 loci, which is 3.5 Mb deletion (20.583.738-24.094.882), partially deleting the AZFb region. Apparently, the deletion occurred as a result of unbalanced recombination of amplicons b1 and b5. Few oligozoospermic men with various types of AZFb deletions have been reported in the literature. The presented case and previously reported patients with Y-chromosome microdeletions indicate the possibility of sperm retrieval of spermatozoa suitable for IVF/ICSI in some patients with complete and partial AZFb and AZFb+c deletions in partial preservation of spermatogenesis. In this regard, as well as the possibility of falsely positive and or incorrectly defined AZF deletions, it is need to highly recommend to verify various deletions with the (sub)typing when Y chromosome microdeletions were detected.

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