{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T11:17:49Z","timestamp":1715167069446},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase deficiency with mild symptoms is seldom diagnosed, the classic steroid 21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal crises due to the insufficient aldosterone and cortisol serum levels. The classic type requires life-long steroid replacement which may result in cushingoid side effects, and typical comorbidities may be also developed. The patients\u2019 quality of life is decreased, and their mortality is much higher than that of the population without steroid 21-hydroxylase deficiency. The diagnosis, consequences and the patients\u2019 life-long clinical care require a multidisciplinary approach: the specialists in pediatrics, internal medicine, endocrinology, laboratory medicine, genetic diagnostics, surgery, obstetrics-gynecology and psychology need to work together. Orv Hetil. 2018; 159(7): 269\u2013277. <\/jats:p>","DOI":"10.1556\/650.2018.30986","type":"journal-article","created":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T09:46:51Z","timestamp":1518342411000},"page":"269-277","source":"Crossref","is-referenced-by-count":1,"title":["Szteroid-21-hidroxil\u00e1z-deficientia, a congenitalis                     adrenalis hyperplasia leggyakoribb oka"],"prefix":"10.1556","volume":"159","author":[{"given":"M\u00e1rton","family":"Doleschall","sequence":"first","affiliation":[{"name":"Molekul\u00e1ris Medicina Kutat\u00f3csoport, Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00f3ra","family":"T\u00f6r\u00f6k","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"M\u00e9sz\u00e1ros","sequence":"additional","affiliation":[{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest, Szentkir\u00e1lyi u. 46., 1088"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Luczay","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zita","family":"Hal\u00e1sz","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolette","family":"Sz\u00fccs","sequence":"additional","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00f3bert","family":"Kiss","sequence":"additional","affiliation":[{"name":"II. 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Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2018.30986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T20:05:44Z","timestamp":1550606744000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2018.30986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1556\/650.2018.30986"],"URL":"https:\/\/doi.org\/10.1556\/650.2018.30986","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}