{"id":36118,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/alteraciones-endocrinologicas-en-la-distrofia-miotonica\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"alteraciones-endocrinologicas-en-la-distrofia-miotonica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/alteraciones-endocrinologicas-en-la-distrofia-miotonica\/","title":{"rendered":"Alteraciones endocrinologicas en la distrofia miotonica."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Emma Anda Api\u00f1aniz <\/strong><\/h2>\n<p>La distrofia miot\u00f3nica es una alteraci\u00f3n multisist\u00e9mica que afecta, entre otros, al sistema endocrino, y que muestra una gran variabilidad cl\u00ednica. Se hereda de forma autos\u00f3mica dominante, y la alteraci\u00f3n gen\u00e9tica consiste en la repetici\u00f3n de un triplete ctg en la regi\u00f3n 13.3 del cromosoma 19q, que forma parte del exon de un gen que codifica para una protein-kinasa.  en este trabajo se estudian cinco ejes endocrinos diferentes (tiroideo, corticotropo, andr\u00f3genos suprarrenales, metabolismo fosfo-c\u00e1lcio y funci\u00f3n gonadal en los varones) en un grupo de 25 pacientes diagnosticados de distrofia miot\u00f3nica cl\u00e1sica, para intentar determinar si existen alteraciones en ellos comparando con un grupo control de la misma edad y sexo, y si \u00e9stas dependen de factores como la alteraci\u00f3n muscular cl\u00ednica o la alteraci\u00f3n gen\u00e9tica medida en sangre perif\u00e9rica.  &#8211; en el eje tiroideo se halla en funci\u00f3n tiroidea basal normal, con menor preValencia de anticuerpos antitiroideos que en la poblaci\u00f3n normal. La respuesta de tsh al est\u00edmulo con trh es menor que en los controles.  &#8211; en el eje glucocorticoideo, el cortisol basal y tras estimulaci\u00f3n con acth es normal en los pacientes. Sin embargo, la respuesta de cortisol al factor hipotal\u00e1mico crh se encuentra disminuida en la distrofia miot\u00f3nica, mientras que la acth tiende a responder de forma m\u00e1s elevada que en los controles pero sin diferencias significativas.  &#8211; la dheas es claramente inferior en los pacientes en ambos sexos, mientras que la androstendiona no muestra diferencias entre los pacientes y los controles.  &#8211; en el metabolismo fosfoc\u00e1lcico, el nivel de calcio, f\u00f3sforo y 25-oh-vitamina d es similar en ambos grupos, mientras que la pth es superior en los pacientes. La fosfatasa alcalina \u00f3sea se encuentra elevada en las mujeres con distrofia miot\u00f3nica, mientras que el telop\u00e9ptido es superior en los varones afectos.  &#8211; los varones presentan un hipogonadismo hi<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Alteraciones endocrinologicas en la distrofia miotonica.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Alteraciones endocrinologicas en la distrofia miotonica. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Emma Anda Api\u00f1aniz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Zaragoza<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Miguel Anderiz Lopez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jose Bueno G\u00f3mez <\/li>\n<li>Jos\u00e9 Manuel Gomez Saez (vocal)<\/li>\n<li>Juan  Manuel Casas Fernandez De Tejerina (vocal)<\/li>\n<li> Barberia Layana Juan  Jos\u00e9 (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Emma Anda Api\u00f1aniz La distrofia miot\u00f3nica es una alteraci\u00f3n multisist\u00e9mica que afecta, entre otros, al sistema endocrino, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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