{"id":11914,"date":"2025-06-17T08:30:42","date_gmt":"2025-06-17T06:30:42","guid":{"rendered":"https:\/\/valintermed.com\/?p=11914"},"modified":"2025-06-17T08:30:42","modified_gmt":"2025-06-17T06:30:42","slug":"sindrom-larona","status":"publish","type":"post","link":"https:\/\/valintermed.com\/es\/medlibrary\/sindrome-de-larona\/","title":{"rendered":"S\u00edndrome de Laron"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>El s\u00edndrome de Laron es un trastorno gen\u00e9tico poco com\u00fan que se caracteriza por un retraso grave del crecimiento y resistencia a la hormona del crecimiento (somatotropina). Este trastorno se debe a una deficiencia o ausencia total de receptores de la hormona del crecimiento a nivel celular, lo que provoca una alteraci\u00f3n del metabolismo normal del factor de crecimiento similar a la insulina tipo 1 (IGF-1). Cl\u00ednicamente, el s\u00edndrome se caracteriza por enanismo proporcional, rostro infantil con conservaci\u00f3n de rasgos infantiles, voz aguda y aumento de la grasa corporal. Al mismo tiempo, los pacientes muestran una notable resistencia al desarrollo de diabetes tipo 2 y c\u00e1ncer.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Contenido<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Pesta\u00f1a de contenido alternativo\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Palanca<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 eztoc-toggle-hide-by-default' ><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/valintermed.com\/es\/medlibrary\/sindrome-de-larona\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >Historia de la enfermedad y hechos hist\u00f3ricos interesantes.<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/es\/medlibrary\/sindrome-de-larona\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F_%D1%81%D1%82%D0%B0%D1%82%D0%B8%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Epidemiolog\u00eda (estad\u00edsticas de aparici\u00f3n de enfermedades)<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/es\/medlibrary\/sindrome-de-larona\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E_%D0%B2%D0%BE%D0%B2%D0%BB%D0%B5%D1%87%D1%91%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B3%D0%B5%D0%BD%D1%8B_%D0%B8_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D0%B8\" >Predisposici\u00f3n gen\u00e9tica a la enfermedad (genes y mutaciones implicadas)<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/es\/medlibrary\/sindrome-de-larona\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Factores de riesgo de esta enfermedad.<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>Historia de la enfermedad y hechos hist\u00f3ricos interesantes.<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>La enfermedad fue descrita por primera vez en 1966 por el endocrin\u00f3logo israel\u00ed Zvi Laron en un estudio con un grupo de ni\u00f1os con retraso grave del crecimiento. Cabe destacar que los primeros casos se identificaron principalmente en familias jud\u00edas de origen sefard\u00ed. \u00abEl descubrimiento del s\u00edndrome fue un paso importante en la comprensi\u00f3n de los mecanismos de acci\u00f3n de la hormona del crecimiento\u00bb, se\u00f1al\u00f3 el American Journal of Medical Genetics (1984). En la d\u00e9cada de 1980, gracias al desarrollo de la biolog\u00eda molecular, fue posible establecer el mecanismo gen\u00e9tico exacto de la enfermedad.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F_%D1%81%D1%82%D0%B0%D1%82%D0%B8%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Epidemiolog\u00eda (estad\u00edsticas de aparici\u00f3n de enfermedades)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Seg\u00fan estudios internacionales, la prevalencia del s\u00edndrome de Laron es de aproximadamente 1 caso por cada 500.000 reci\u00e9n nacidos. La mayor incidencia se observa en Oriente Medio y entre las comunidades jud\u00edas del Mediterr\u00e1neo. La siguiente tabla presenta datos estad\u00edsticos por regi\u00f3n:<\/p>\n<ul>\n<li>Regi\u00f3n mediterr\u00e1nea: 1:26.000<\/li>\n<li>Am\u00e9rica Latina: 1:250.000<\/li>\n<li>Europa: 1:700.000<\/li>\n<li>Asia: 1:1.000.000<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E_%D0%B2%D0%BE%D0%B2%D0%BB%D0%B5%D1%87%D1%91%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B3%D0%B5%D0%BD%D1%8B_%D0%B8_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D0%B8\"><\/span>Predisposici\u00f3n gen\u00e9tica a la enfermedad (genes y mutaciones implicadas)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>La enfermedad est\u00e1 causada por mutaciones en el gen GHR (receptor de la hormona del crecimiento), ubicado en el brazo corto del cromosoma 5 (5p13-p12). Se conocen m\u00e1s de 70 mutaciones diferentes que causan el s\u00edndrome. Los principales tipos de mutaciones incluyen:<\/p>\n<ul>\n<li>Mutaciones sin sentido<\/li>\n<li>Cambio del marco de lectura<\/li>\n<li>mutaciones sin sentido<\/li>\n<li>Mutaciones de empalme<\/li>\n<\/ul>\n<p>La mayor\u00eda de los casos se heredan de forma autos\u00f3mica recesiva.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Factores de riesgo de esta enfermedad.<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Los principales factores de riesgo incluyen:<\/p>\n<ul>\n<li>Matrimonios consangu\u00edneos<\/li>\n<li>Vivir en poblaciones aisladas<\/li>\n<li>Presencia de casos de la enfermedad en la familia<\/li>\n<li>Exposici\u00f3n a factores mutag\u00e9nicos durante el embarazo<\/li>\n<\/ul>\n<p>La etnicidad y el aislamiento geogr\u00e1fico de las poblaciones juegan un papel especial.<\/p>\n<p>[La continuaci\u00f3n del art\u00edculo se presentar\u00e1 en el siguiente mensaje debido al l\u00edmite de longitud de la respuesta]<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>El s\u00edndrome de Laron es un trastorno gen\u00e9tico poco com\u00fan que se caracteriza por un retraso grave del crecimiento y resistencia a la hormona del crecimiento (somatotropina). Esta patolog\u00eda...<\/p>","protected":false},"author":1,"featured_media":20456,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-11914","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/posts\/11914","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/comments?post=11914"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/posts\/11914\/revisions"}],"predecessor-version":[{"id":15284,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/posts\/11914\/revisions\/15284"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/media\/20456"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/media?parent=11914"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/categories?post=11914"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/es\/wp-json\/wp\/v2\/tags?post=11914"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}