{"id":26000,"date":"2018-03-09T09:17:37","date_gmt":"2018-03-09T09:17:37","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/la-hiperplasia-suprarrenal-congenita-por-defecto-en-la-enzima-21-hidroxilasa-caracterizacion-por-el-sistema-hla-y-aportacion-de-la-biologa%c2%ada-molecular\/"},"modified":"2018-03-09T09:17:37","modified_gmt":"2018-03-09T09:17:37","slug":"la-hiperplasia-suprarrenal-congenita-por-defecto-en-la-enzima-21-hidroxilasa-caracterizacion-por-el-sistema-hla-y-aportacion-de-la-biologa%c2%ada-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/la-hiperplasia-suprarrenal-congenita-por-defecto-en-la-enzima-21-hidroxilasa-caracterizacion-por-el-sistema-hla-y-aportacion-de-la-biologa%c2%ada-molecular\/","title":{"rendered":"La hiperplasia suprarrenal cong\u00e9nita por defecto en la enzima 21-hidroxilasa: caracterizaci\u00f3n por el sistema hla y aportaci\u00f3n de la biolog\u00eda molecular"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Plensa Nebot M. Isabel <\/strong><\/h2>\n<p>La hiperplasia suprarrenal cong\u00e9nita (hsc) comprende un conjunto de trastornos hereditarios de la esteroidog\u00e9nesis, causados por la deficiencia de alguna de las enzimas necesarias para la conversi\u00f3n del colesterol en cortisol. el m\u00e1s frecuente es el d\u00e9ficit en 21-hidroxilasa, responsable de cerca del 90% de los casos de hsc. El d\u00e9ficit en 21-hidroxilasa es una enfermedad hereditaria autos\u00f3mica recesiva, causado por una alteraci\u00f3n gen\u00e9tica en el gen cyp21b que codifica la enzima.  esta enfermedad presenta un espectro de manifestaciones cl\u00ednicas muy amplio; desde formas severas que se presentan al nacimiento, en las que la virilizaci\u00f3n puede ir o no acompa\u00f1ada de un s\u00edndrome pierde sal, hasta formas m\u00e1s leves en que los signos de virilizaci\u00f3n se presentan m\u00e1s tard\u00edamente. La incidencia de las formas cl\u00e1sicas de este d\u00e9ficit, oscila alrededor de 1:100.000-15.000 nacimientos, mientras la de las formas no cl\u00e1sicas se ha estimado en 1:1.000 en la poblaci\u00f3n blanca, con marcadas variaciones \u00e9tnicas.  el objetivo ha sido la caracterizaci\u00f3n cl\u00ednica, biol\u00f3gica y gen\u00e9tica de la hsc por d\u00e9ficit en 21-hidroxilasa de una poblaci\u00f3n de la comunidad aut\u00f3noma de catalunya, con el fin de poder realizar un diagn\u00f3stico etiol\u00f3gico concluyente y establecer el consejo gen\u00e9tico familiar completo.  han colaborado 53 familias (106 cromosomas no emparentados) con al menos un hijo diagnosticado de hsc por d\u00e9ficit en 21-hidroxilasa, siendo el total de individuos estudiados de 214. De este total, 71 son pacientes que seg\u00fan los s\u00edntomas cl\u00ednicos fueron clasificados en: 13 sw; 5 sv y 53 nc; 102 son progenitores y 41 son hermanos de dichos pacientes, ninguno de ellos cl\u00ednicamente afecto.  para la determinaci\u00f3n de la funci\u00f3n hormonal se practic\u00f3 una prueba de estimulaci\u00f3n con corticotropina (test de acth), con valoraci\u00f3n de las concentraciones plasm\u00e1ticas de 17-hidroxiprogesterona antes y tras 30 minutos de la inyecci\u00f3n. la de<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>La hiperplasia suprarrenal cong\u00e9nita por defecto en la enzima 21-hidroxilasa: caracterizaci\u00f3n por el sistema hla y aportaci\u00f3n de la biolog\u00eda molecular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 La hiperplasia suprarrenal cong\u00e9nita por defecto en la enzima 21-hidroxilasa: caracterizaci\u00f3n por el sistema hla y aportaci\u00f3n de la biolog\u00eda molecular <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Plensa Nebot M. Isabel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/09\/2003<\/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>Carles Pav\u00eda Sesma<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: francesc Villarroya gombau <\/li>\n<li>ramon Nosas cuervo (vocal)<\/li>\n<li>guadalupe Ercilla gonz\u00e1lez (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Plensa Nebot M. Isabel La hiperplasia suprarrenal cong\u00e9nita (hsc) comprende un conjunto de trastornos hereditarios de la [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,160,115,155,35,9,851,2135,817,11771,139,17],"tags":[75449,34027,1374,75448,75450],"class_list":["post-26000","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-bioquimica","category-bioquimica-molecular","category-ciencias-clinicas","category-ciencias-de-la-vida","category-ciencias-medicas","category-endocrinologia","category-fisiologia-endocrina","category-fisiologia-humana","category-genetica-clinica","category-medicina-interna","category-quimica","tag-carles-pavia-sesma","tag-francesc-villarroya-gombau","tag-guadalupe-ercilla-gonzalez","tag-plensa-nebot-m-isabel","tag-ramon-nosas-cuervo"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/26000","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=26000"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/26000\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=26000"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=26000"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=26000"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}