{"id":27322,"date":"2025-06-24T14:54:51","date_gmt":"2025-06-24T12:54:51","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-secventiere-sanger\/"},"modified":"2026-02-27T18:00:59","modified_gmt":"2026-02-27T16:00:59","slug":"deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-secventiere-sanger","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-secventiere-sanger\/","title":{"rendered":"Deficienta de 21 hidroxilaza (Sindrom adreno-genital) &#8211; gena CYP21A2 &#8211; secventiere Sanger"},"content":{"rendered":"<p><strong>Deficien\u021ba de 21-hidroxilaz\u0103 <\/strong>este cea mai frecvent\u0103 cauz\u0103 de sindrom adreno-genital congenital, o boal\u0103 autosomal recesiv\u0103 caracterizat\u0103 prin deficit de cortizol \u0219i\/sau aldosteron \u0219i supraproduc\u021bie de androgeni. Manifest\u0103rile variaz\u0103 de la forme severe, cu insuficien\u021b\u0103 adrenal\u0103 la nou-n\u0103scu\u021bi, p\u00e2n\u0103 la forme u\u0219oare, cu pubertate precoce, hirsutism sau infertilitate la adul\u021bi.<\/p>\n<\/p>\n<p> Secven\u021bierea Sanger permite identificarea muta\u021biilor punctiforme, complet\u00e2nd analiza structural\u0103 (dele\u021bii\/duplic\u0103ri) realizat\u0103 prin MLPA.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>forme clasice: insuficien\u021b\u0103 adrenal\u0103 acut\u0103, virilizare la fete, hiperandrogenism<\/li>\n<li>forme neclasice: pubertate precoce, hirsutism, infertilitate, menstrua\u021bii neregulate<\/li>\n<li>tulbur\u0103ri electrolitice: hiponatremie, hiperkaliemie<\/li>\n<li>dezechilibre hormonale la adul\u021bi \u0219i copii<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>nou-n\u0103scu\u021bi cu screening pozitiv pentru CAH<\/li>\n<li>femei \u0219i b\u0103rba\u021bi cu simptome de hiperandrogenism<\/li>\n<li>persoane cu antecedente familiale de CAH<\/li>\n<li>cupluri care doresc consiliere genetic\u0103 \u0219i evaluarea riscului de transmitere<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>analiza se realizeaz\u0103 prin secven\u021biere Sanger, pentru detectarea muta\u021biilor punctiforme ale genei CYP21A2<\/li>\n<li>poate fi combinat\u0103 cu test MLPA pentru a evalua \u0219i dele\u021biile sau duplic\u0103rile genei<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea diagnosticului genetic al CAH<\/li>\n<li>identificarea purt\u0103torilor s\u0103n\u0103to\u0219i<\/li>\n<li>permite consiliere genetic\u0103 \u0219i planificarea sarcinii<\/li>\n<li>sprijin\u0103 monitorizarea \u0219i adaptarea tratamentului hormonal<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>detecteaz\u0103 muta\u021biile punctiforme, nu modific\u0103rile structurale (dele\u021bii\/duplic\u0103ri)<\/li>\n<li>rezultatele trebuie interpretate \u00een context clinic \u0219i familial<\/li>\n<li>nu ofer\u0103 informa\u021bii exacte despre severitatea fenotipului la fiecare pacient<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>MLPA CYP21A2 (dele\u021bii\/duplic\u0103ri)<\/li>\n<li>evaluare hormonal\u0103 complet\u0103 (cortizol, aldosteron, androgeni)<\/li>\n<li>consiliere genetic\u0103 familial\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul evalueaz\u0103 deficien\u021ba de 21-hidroxilaz\u0103 prin analiza genei CYP21A2, identific\u00e2nd muta\u021biile punctiforme implicate \u00een formele clasice \u0219i neclasice ale sindromului adreno-genital congenital (CAH).<\/p>\n<\/p>\n<p><strong>Gen\u0103 analizat\u0103:<\/strong> CYP21A2<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3167,2876],"product_tag":[],"class_list":["post-27322","product","type-product","status-publish","product_cat-analize","product_cat-fertilitate-infertilitate-fiv","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Testul evalueaz\u0103 deficien\u021ba de 21-hidroxilaz\u0103 prin analiza genei CYP21A2, identific\u00e2nd muta\u021biile punctiforme implicate \u00een formele clasice \u0219i neclasice ale sindromului adreno-genital congenital (CAH).Gen\u0103 analizat\u0103: CYP21A2\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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