{"id":27055,"date":"2025-06-24T14:39:39","date_gmt":"2025-06-24T12:39:39","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-analiza-deletii-duplicatii-prin-mlpa\/"},"modified":"2026-02-27T17:56:39","modified_gmt":"2026-02-27T15:56:39","slug":"deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-analiza-deletii-duplicatii-prin-mlpa","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/deficienta-de-21-hidroxilaza-sindrom-adreno-genital-gena-cyp21a2-analiza-deletii-duplicatii-prin-mlpa\/","title":{"rendered":"Deficienta de 21 hidroxilaza (Sindrom adreno-genital) &#8211; gena CYP21A2 &#8211; analiza deletii\/duplicatii prin MLPA"},"content":{"rendered":"<p>Deficien\u021ba de 21-hidroxilaz\u0103 este cea mai frecvent\u0103 form\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 pot varia de la forme severe, care pun via\u021ba \u00een pericol la na\u0219tere, p\u00e2n\u0103 la forme u\u0219oare cu pubertate precoce \u0219i infertilitate.<\/p>\n<\/p>\n<p>Testul MLPA permite detectarea anomaliilor structurale ale genei CYP21A2, complet\u00e2nd testarea muta\u021biilor punctiforme \u0219i oferind o imagine complet\u0103 a statutului genetic.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>forme clasice: hiperpigmenta\u021bie, hiperandrogenism, virilizare la fete, insuficien\u021b\u0103 adrenal\u0103 acut\u0103 la nou-n\u0103scu\u021bi<\/li>\n<li>forme neclasice: pubertate precoce, hirsutism, infertilitate, menstrua\u021bii neregulate<\/li>\n<li>tulbur\u0103ri electrolitice: hiponatremie, hiperkaliemie<\/li>\n<li>dezechilibru hormonal 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 MLPA, detect\u00e2nd dele\u021bii \u0219i duplic\u0103ri ale genei CYP21A2<\/li>\n<li>poate fi combinat\u0103 cu analiza muta\u021biilor punctiforme pentru un diagnostic complet<\/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 \u00een familie<\/li>\n<li>facilitarea consilierii genetice \u0219i planific\u0103rii sarcinii<\/li>\n<li>permite 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 doar dele\u021bii \u0219i duplic\u0103ri, nu toate muta\u021biile punctiforme<\/li>\n<li>rezultatele trebuie interpretate \u00een context clinic \u0219i familial<\/li>\n<li>nu ofer\u0103 informa\u021bii despre severitatea fenotipului \u00een fiecare caz<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>analiza muta\u021biilor punctiforme CYP21A2<\/li>\n<li>consiliere genetic\u0103 familial\u0103<\/li>\n<li>screening hormonal \u0219i evaluare endocrin\u0103 complet\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul evalueaz\u0103 deficien\u021ba de 21-hidroxilaz\u0103 prin analiza genei CYP21A2, principalul factor genetic implicat \u00een sindromul adreno-genital congenital (CAH).<\/p>\n<p>Detecteaz\u0103 at\u00e2t dele\u021bii, c\u00e2t \u0219i duplic\u0103ri ale genei, identific\u00e2nd formele clasice \u0219i neclasice ale bolii.<\/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-27055","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":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27055","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27055"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27055"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27055"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27055"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}