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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.09.131-134</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-3198</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКОЕ СООБЩЕНИЕ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Увеличение частоты сперматогенных клеток с коилином ассоциировано с делециями локуса AZF у пациентов с азооспермией</article-title><trans-title-group xml:lang="en"><trans-title>Increased frequency of coilin-containing spermatogenic cells is associated with AZF deletions in azoospermic patients</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Трусова</surname><given-names>Е. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Trusova</surname><given-names>E. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3  </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg</p></bio><email xlink:type="simple">trusova.ek@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Крапивин</surname><given-names>М. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Krapivin</surname><given-names>M. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Староверов</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Staroverov</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3  ; 199034, г. Санкт-Петербург, Университетская наб., д.7/9 </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg; 7/9, Universitetskaya Emb., Saint Petersburg, 199034</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сагурова</surname><given-names>Я. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Sagurova</surname><given-names>Y. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Комарова</surname><given-names>Е. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Komarova</surname><given-names>E. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3  </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ефимова</surname><given-names>О. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Efimova</surname><given-names>O. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3 </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пендина</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Pendina</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>199034, г. Санкт-Петербург, Менделеевская линия, д.3; 199034, г. Санкт-Петербург, Университетская наб., д.7/9  </p></bio><bio xml:lang="en"><p>3, Mendeleyevskaya line, 199034, Saint Petersburg; 7/9, Universitetskaya Emb., Saint Petersburg, 199034</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ Научно-исследовательский институт акушерства, гинекологии и репродуктологии имени Д.О. Отта</institution><country>Россия</country></aff><aff xml:lang="en"><institution>D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБНУ Научно-исследовательский институт акушерства, гинекологии и репродуктологии имени Д.О. Отта; Санкт-Петербургский государственный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; Saint-Petersburg State University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБНУ Научно-исследовательский институт акушерства, гинекологии и репродуктологии имени Д.О. Отта; Санкт-Петербургский государственный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology;Saint-Petersburg State University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>13</day><month>11</month><year>2025</year></pub-date><volume>24</volume><issue>9</issue><fpage>131</fpage><lpage>134</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Трусова Е.Д., Крапивин М.И., Староверов Д.А., Сагурова Я.М., Комарова Е.М., Ефимова О.А., Пендина А.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Трусова Е.Д., Крапивин М.И., Староверов Д.А., Сагурова Я.М., Комарова Е.М., Ефимова О.А., Пендина А.А.</copyright-holder><copyright-holder xml:lang="en">Trusova E.D., Krapivin M.I., Staroverov D.A., Sagurova Y.M., Komarova E.M., Efimova O.A., Pendina A.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/3198">https://www.medgen-journal.ru/jour/article/view/3198</self-uri><abstract><sec><title>Актуальность</title><p>Актуальность. Изучение механизмов влияния делеций локуса AZF на хромосоме Y, в том числе за счет нарушений биогенеза мРНК, регулируемого белком коилином, на мужскую фертильность является актуальной задачей.</p></sec><sec><title>Цель</title><p>Цель: поиск ассоциаций между содержанием и распределением в сперматогенных клетках коилина и типом делеции локуса AZF у пациентов с азооспермией.</p></sec><sec><title>Методы</title><p>Методы. Исследование проведено на биоптатах семенников 12 пациентов с азооспермией. Локус AZF анализировали методом ПЦР, коилин выявляли методом иммуногистохимии.</p></sec><sec><title>Результаты</title><p>Результаты. Анализ локуса AZF позволил установить отсутствие делеций в 4 образцах, делецию gr/gr в 4 образцах и делеции AZFc и AZFb+c в 4 образцах. Коилин был локализован в ядрах только некоторых сперматогенных клеток. Среди сперматогониев А, сперматогониев В и сперматоцитов I, гаплоидных сперматогенных клеток образцов с делецией gr/gr доля клеток с коилином была выше, чем в образцах без делеций AZF (критерий хи-квадрат, р&lt;0,001). В образцах с делециями AZFc и AZFb+c доля клеток с коилином как среди сперматогониев В и сперматоцитов I, так и среди гаплоидных клеток была больше по сравнению с группой без делеций (критерий хи-квадрат, р&lt;0,025 и р&lt;0,001, соответственно).</p></sec><sec><title>Заключение</title><p>Заключение. Увеличение доли клеток с коилином на любом этапе сперматогенеза свидетельствует о его роли в патогенезе мужского бесплодия, связанного с делециями локуса AZF. Повышенное содержание коилина в сперматогенных клетках биоптатов с делецией gr/gr указывает на его возможное участие в компенсаторных механизмах поддержания сперматогенеза.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Background</title><p>Background. It is of particular importance to study how AZF locus deletions on the Y chromosome impact male fertility, particularly through disruptions in mRNA biogenesis regulated by the coilin protein.</p></sec><sec><title>Objective</title><p>Objective. The study aims to investigate associations between the content and distribution of coilin in spermatogenic cells and the type of AZF locus deletion in azoospermic patients.</p></sec><sec><title>Methods</title><p>Methods. The study was performed on testicular biopsies from 12 azoospermic patients. The AZF locus was analyzed by PCR, and coilin was detected by immunohistochemistry.</p></sec><sec><title>Results</title><p>Results. Analysis of the AZF locus revealed no deletions in 4 samples, gr/gr deletions in 4 samples, and AZFc or AZFb+c deletions in  4  samples. Coilin was localized in the nuclei of only certain spermatogenic cells. In samples with gr/gr deletions, among spermatogonia A, spermatogonia B, spermatocytes I, and haploid spermatogenic cells, the proportion of coilin-positive cells was significantly higher than in samples without AZF deletions (chi-square test, р&lt;0.025 and р&lt;0.001).).</p></sec><sec><title>Conclusion</title><p>Conclusion. An increased proportion of coilin-positive cells at any stage of spermatogenesis suggests its role in the pathogenesis of male infertility associated with AZF locus deletions. Elevated coilin levels in spermatogenic cells from biopsies with gr/gr deletions indicate its potential involvement in compensatory mechanisms to sustain spermatogenesis.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>сперматогенез</kwd><kwd>коилин</kwd><kwd>делеции AZF</kwd><kwd>азооспермия</kwd><kwd>сперматогонии</kwd><kwd>сперматоциты I</kwd><kwd>сперматоциты II</kwd><kwd>сперматиды</kwd></kwd-group><kwd-group xml:lang="en"><kwd>spermatogenesis</kwd><kwd>coilin</kwd><kwd>AZF deletions</kwd><kwd>azoospermia</kwd><kwd>spermatogonia</kwd><kwd>spermatocytes I</kwd><kwd>spermatocytes II</kwd><kwd>spermatids</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено за счет гранта Российского научного фонда № 24-15-00402, https://rscf.ru/ project/24-15-00402/. Д.А. Староверов является получателем стипендии Президента Российской Федерации (SPN.2025.00487).</funding-statement><funding-statement xml:lang="en">The study was supported by the Russian Science Foundation, grant No. 24-15-00402 https://rscf.ru/project/24-15-00402/. D.A. Staroverov was personally supported by scholarship from RF President (SPN.2025.00487).</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Cox C.M., Thoma M.E., Tchangalova N., et al. Infertility prevalence and the methods of estimation from 1990 to 2021: a systematic review and meta-analysis. Hum Reprod Open. 2022; 2022(4):hoac051. doi:10.1093/hropen/hoac051.</mixed-citation><mixed-citation xml:lang="en">Cox C.M., Thoma M.E., Tchangalova N., et al. Infertility prevalence and the methods of estimation from 1990 to 2021: a systematic review and meta-analysis. 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