{"id":3501,"date":"2021-06-29T13:37:09","date_gmt":"2021-06-29T13:37:09","guid":{"rendered":"https:\/\/fivclinic.es\/?p=3501"},"modified":"2024-12-22T18:26:02","modified_gmt":"2024-12-22T18:26:02","slug":"premutacio-del-gen-x-fragil-i-fertilitat-eshre","status":"publish","type":"post","link":"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/","title":{"rendered":"Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021"},"content":{"rendered":"\r\n<h4 class=\"wp-block-heading\"><strong>La European Society of Human Reproduction and Embryology (<a href=\"https:\/\/www.eshre.eu\/ESHRE2021\">ESHRE<\/a>) celebra cada any un congr\u00e9s on es presenten les \u00faltimes novetats en reproducci\u00f3 assistida. Des de FIVcl\u00ednic sempre presentem els resultats de les nostres investigacions. Aquest 2021, hem donat a con\u00e8ixer un estudi sobre premutaci\u00f3 del gen X fr\u00e0gil i els seus efectes en la fertilitat. <\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Al congr\u00e9s, la nostra especialista en reproducci\u00f3 assistida, Aina Borr\u00e0s, va presentar els resultats de l&#8217;estudi sobre la prevalen\u00e7a de la premutaci\u00f3 del gen X fr\u00e0gil en dones joves amb baixa reserva ov\u00e0rica: quines implicacions t\u00e9 en la pr\u00e0ctica cl\u00ednica habitual?<\/p>\r\n\r\n\r\n\r\n<figure class=\"wp-block-image\"><img decoding=\"async\" class=\"wp-image-3508\" src=\"https:\/\/fivclinic.es\/wp-content\/uploads\/2021\/07\/ESHRE2021-1024x768.jpeg\" alt=\"\" \/><\/figure>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Quins riscos comporta el gen X fr\u00e0gil en la fertilitat?<\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Les pacients portadores d&#8217;aquesta premutaci\u00f3 presenten un risc incrementat de presentar menopausa prematura (abans dels 40 anys), que afecta fins a un 24% dels casos. A m\u00e9s, comporta un risc important de tenir descend\u00e8ncia afectada de la mateixa s\u00edndrome de l&#8217;X fr\u00e0gil, amb alteracions severes en el neurodesenvolupament.<\/p>\r\n\r\n\r\n\r\n<p>Sabem que aquesta menopausa preco\u00e7 \u00e9s l&#8217;evoluci\u00f3 d&#8217;un proc\u00e9s ov\u00e0ric precedit per una esterilitat amb alteraci\u00f3 dels marcadors de reserva ov\u00e0rica. No obstant, la prevalen\u00e7a de la premutaci\u00f3 d&#8217;aquest gen en pacients amb esterilitat i reserva ov\u00e0rica disminu\u00efda (recompte de fol\u00b7licles antrals per sota de 7 i valors de AMH per sota de 0.8) no est\u00e0 clara, i \u00e9s desconeguda al nostre medi.<\/p>\r\n\r\n\r\n\r\n<h4 class=\"wp-block-heading\"><strong>Quin \u00e9s l&#8217;objectiu de l&#8217;estudi?<\/strong><\/h4>\r\n\r\n\r\n\r\n<p>Per tant, l&#8217;objectiu d&#8217;aquest estudi, titulat <strong>&#8220;Prevalen\u00e7a de la premutaci\u00f3 del gen FMR1 en poblaci\u00f3 pacient est\u00e8ril, jove amb baixa reserva ov\u00e0rica. Implicacions en la pr\u00e1ctica cl\u00ednica habitual&#8221;<\/strong>, ha estat valorar la prevalen\u00e7a de la premutaci\u00f3 i trobar un perfil de pacient amb baixa reserva ov\u00e0rica a qui sigui adequat realitzar l&#8217;estudi del gen de cara a realitzar un adequat consell gen\u00e8tic reproductiu.<\/p>\r\n\r\n\r\n\r\n<p>L&#8217;estudi va valorar 307 casos, incloent un grup de control no est\u00e8ril. En el grup de pacients joves (menors de 35 anys) amb esterilitat i baixa reserva ov\u00e0rica (AFC &lt;7 i AMH &lt;0.8) es va trobar una prevalen\u00e7a elevada de la premutaci\u00f3 (4.22%), superior al de la poblaci\u00f3 control (0.7%) .<\/p>\r\n\r\n\r\n\r\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\r\n<p>Concloem que cal considerar realitzar l&#8217;estudi de la premutaci\u00f3 del gen FMR1 en el grup de pacients est\u00e8rils de fins a 35 anys, amb patr\u00f3 menstrual regular, que presentin una baixa reserva ov\u00e0rica, ja que pot tenir implicacions importants en el seu futur reproductiu.<\/p>\r\n<cite>Aina Borr\u00e0s<\/cite><\/blockquote>\r\n","protected":false},"excerpt":{"rendered":"<p>La European Society of Human Reproduction and Embryology (ESHRE) celebra cada any un congr\u00e9s on es presenten les \u00faltimes novetats en reproducci\u00f3 assistida. Des de FIVcl\u00ednic sempre presentem els resultats de les nostres investigacions. Aquest 2021, hem donat a con\u00e8ixer un estudi sobre premutaci\u00f3 del gen X fr\u00e0gil i els seus efectes en la fertilitat.&hellip; <a class=\"more-link\" href=\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\">Continueu llegint <span class=\"screen-reader-text\">Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[362],"tags":[],"autores":[],"tipo_de_blog":[],"class_list":["post-3501","post","type-post","status-publish","format-standard","hentry","category-actualitat-ca","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.1.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021 - fivcl\u00ednic | barnacl\u00ednic+<\/title>\n<meta name=\"description\" content=\"Presentem els resultats de l&#039;estudi sobre la pacient amb la premutaci\u00f3 del gen X fr\u00e0gil i la seva afectaci\u00f3 en la reserva ov\u00e0rica al congr\u00e9s ESHRE 2021.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021 - fivcl\u00ednic | barnacl\u00ednic+\" \/>\n<meta property=\"og:description\" content=\"Presentem els resultats de l&#039;estudi sobre la pacient amb la premutaci\u00f3 del gen X fr\u00e0gil i la seva afectaci\u00f3 en la reserva ov\u00e0rica al congr\u00e9s ESHRE 2021.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\" \/>\n<meta property=\"og:site_name\" content=\"fivcl\u00ednic | barnacl\u00ednic+\" \/>\n<meta property=\"article:published_time\" content=\"2021-06-29T13:37:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-12-22T18:26:02+00:00\" \/>\n<meta name=\"author\" content=\"lai.amoros\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrit per\" \/>\n\t<meta name=\"twitter:data1\" content=\"lai.amoros\" \/>\n\t<meta name=\"twitter:label2\" content=\"Temps estimat de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minuts\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\"},\"author\":{\"name\":\"lai.amoros\",\"@id\":\"https:\/\/fivclinic.es\/ca\/#\/schema\/person\/2eb955a187e138d5f5c87cca23469c77\"},\"headline\":\"Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021\",\"datePublished\":\"2021-06-29T13:37:09+00:00\",\"dateModified\":\"2024-12-22T18:26:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\"},\"wordCount\":418,\"publisher\":{\"@id\":\"https:\/\/fivclinic.es\/ca\/#organization\"},\"image\":{\"@id\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/fivclinic.es\/wp-content\/uploads\/2021\/07\/ESHRE2021-1024x768.jpeg\",\"articleSection\":[\"Actualitat\"],\"inLanguage\":\"ca\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\",\"url\":\"https:\/\/fivclinic.es\/ca\/premutacio-del-gen-x-fragil-i-fertilitat-eshre\/\",\"name\":\"Premutaci\u00f3 del gen X fr\u00e0gil i fertilitat, a ESHRE 2021 - 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