{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T14:47:51Z","timestamp":1697899671658},"reference-count":24,"publisher":"Akademiai Kiado Zrt.","issue":"32","license":[{"start":{"date-parts":[[2023,8,13]],"date-time":"2023-08-13T00:00:00Z","timestamp":1691884800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2023,8,13]]},"abstract":"<jats:p>69 \u00e9ves n\u0151beteg\u00fcnk kivizsg\u00e1l\u00e1sa 2 \u00e9v alatt bek\u00f6vetkezett 20 kg tests\u00falygyarapod\u00e1s\n                    miatt kezd\u0151d\u00f6tt. Anamn\u00e9zis\u00e9ben kezelt hypertonia, hyperuricaemia, k\u00e9toldali\n                    cataractam\u0171t\u00e9t, mozg\u00e1sszervi panaszok szerepeltek. Cukorbetegs\u00e9ge nem volt. A\n                    fizik\u00e1lis vizsg\u00e1lat sor\u00e1n visceralis t\u00edpus\u00fa elh\u00edz\u00e1st, proximalis myopathi\u00e1t,\n                    illetve atrophi\u00e1s, s\u00e9r\u00fcl\u00e9keny b\u0151rt \u00e9szlelt\u00fcnk, livid stri\u00e1t nem tal\u00e1ltunk. A\n                    r\u00f6vid, kis adag\u00fa \u00e9s a hossz\u00fa, kis adag\u00fa dexametazonszuppresszi\u00f3s tesztek auton\u00f3m\n                    kortizol-t\u00faltermel\u00e9st jeleztek (sz\u00e9rumkortizol: 172,6 \u00e9s 153,2 nmol\/l,\n                    norm\u00e1l\u00e9rt\u00e9k: &lt;50 nmol\/l). Az alacsony ACTH-szint (&lt;1,11 pmol\/l,\n                    norm\u00e1ltartom\u00e1ny: 1,12\u201310,75 pmol\/l) ACTH-independens hypercortisolismusra utalt.\n                    A hasi CT-vizsg\u00e1lat mindk\u00e9t mell\u00e9kvese macronodularis jelleg\u0171 megnagyobbod\u00e1s\u00e1t\n                    \u00edrta le, a legnagyobb nodularis k\u00e9plet jobb oldalon 23 \u00d7 20 mm, bal oldalon 24 \u00d7\n                    30 mm nagys\u00e1g\u00fa volt (nat\u00edv sorozaton \u201333 \u00b1 37 HU denzit\u00e1s\u00e9rt\u00e9kekkel). A\n                        <jats:sup>131<\/jats:sup>I-koleszterinnel v\u00e9gzett mell\u00e9kvesek\u00e9reg-szcintigr\u00e1fia \u00e9s\n                    SPECT\/CT mindk\u00e9t oldalon k\u00f6zel azonos intenzit\u00e1s\u00fa radiofarmakon-felv\u00e9telt\n                    igazolt. A klinikai eredm\u00e9nyek alapj\u00e1n ACTH-independens hypercortisolismussal\n                    t\u00e1rsul\u00f3 bilateralis macronodularis mell\u00e9kvese-hyperplasi\u00e1t v\u00e9lem\u00e9nyezt\u00fcnk. A\n                    beteg perif\u00e9ri\u00e1s v\u00e9rmint\u00e1j\u00e1nak c\u00e9lzott DNS-szekven\u00e1l\u00e1sa az <jats:italic>\u2019armadillo\n                        repeat-containing 5\u2019<\/jats:italic>\n                    <jats:italic>(ARMC5-)<\/jats:italic> g\u00e9n \u00faj, c.1724del28 bp (g.31,476,067\u201331,476,094)\n                    heterozig\u00f3ta mut\u00e1ci\u00f3j\u00e1t igazolta. A beteg mindk\u00e9t gyermek\u00e9nek genetikai sz\u0171r\u00e9se\n                    megt\u00f6rt\u00e9nt az <jats:italic>ARMC5<\/jats:italic>-mut\u00e1ci\u00f3 ir\u00e1ny\u00e1ban; a fiatalabb gyermek\u00e9n\u00e9l\n                    ugyanezt a mut\u00e1ci\u00f3t igazoltuk. Az ismertetett eset tudom\u00e1sunk szerint az els\u0151,\n                    Magyarorsz\u00e1gon diagnosztiz\u00e1lt, cs\u00edrasejtes <jats:italic>ARMC5<\/jats:italic>-mut\u00e1ci\u00f3\n                    mellett \u00e9szlelt ACTH-independens hypercortisolismussal t\u00e1rsult primer\n                    bilateralis macronodularis mell\u00e9kvese-hyperplasia, amely k\u00e9t egym\u00e1st k\u00f6vet\u0151\n                    gener\u00e1ci\u00f3t is \u00e9rintett. Orv Hetil. 2023; 164(32): 1271\u20131277.<\/jats:p>","DOI":"10.1556\/650.2023.32817","type":"journal-article","created":{"date-parts":[[2023,8,13]],"date-time":"2023-08-13T18:03:26Z","timestamp":1691949806000},"page":"1271-1277","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["Cushing-szindr\u00f3m\u00e1t okoz\u00f3 macronodularis mell\u00e9kvese-hyperplasia ARMC5-g\u00e9nmut\u00e1ci\u00f3 k\u00f6vetkezt\u00e9ben."],"prefix":"10.1556","volume":"164","author":[{"given":"Zolt\u00e1n","family":"Hella","sequence":"first","affiliation":[{"name":"Misszi\u00f3 Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, Endokrinol\u00f3gia szakrendel\u00e9s Veresegyh\u00e1z Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"T\u0151ke","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika, Endo-ERN K\u00f6zpont Budapest, Kor\u00e1nyi S. u. 2\/A, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Pat\u00f3cs","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Laborat\u00f3riumi Medicina Int\u00e9zet \u00e9s MTA \u00d6r\u00f6kletes Daganatok Kutat\u00f3csoport Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsolt","family":"Varga","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Orvosi K\u00e9palkot\u00f3 Klinika, Nukle\u00e1ris Medicina Tansz\u00e9k Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Dabasi","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Orvosi K\u00e9palkot\u00f3 Klinika, Nukle\u00e1ris Medicina Tansz\u00e9k Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor L\u00e1szl\u00f3","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Kistarcsai Fl\u00f3r Ferenc K\u00f3rh\u00e1z, I. Belgy\u00f3gy\u00e1szati Oszt\u00e1ly Kistarcsa Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikl\u00f3s","family":"T\u00f3th","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika, Endo-ERN K\u00f6zpont Budapest, Kor\u00e1nyi S. u. 2\/A, 1083 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1. Bukovszky B, G\u00e1cs Z, Jen\u0151v\u00e1ri Z, et al. Pediatric adrenocortical adenoma presenting with Cushing's syndrome. [Cushing-szindr\u00f3m\u00e1t okoz\u00f3 gyermekkori mell\u00e9kvesek\u00e9reg-adenoma.] Orv Hetil. 2022; 163: 407-412. [Hungarian]","DOI":"10.1556\/650.2022.32358"},{"key":"ref1","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1210\/jcem-24-10-947","article-title":"Cushing's syndrome: nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumor","volume":"24","author":"Kirschner","year":"1964","unstructured":"2. Kirschner MA, Powell RD Jr, Lipsett MB. Cushing's syndrome: nodular cortical hyperplasia of adrenal glands with clinical and pathological features suggesting adrenocortical tumor. J Clin Endocrinol Metab. 1964; 24: 947-955.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"3. Alencar GA, Lerario AM, Nishi MY, et al. ARMC5 mutations are a frequent cause of primary macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014; 99: E1501-E1509.","DOI":"10.1210\/jc.2013-4237"},{"key":"ref3","unstructured":"4. T\u00f3th M. Cushing's syndrome. 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Mulatero P, Schiavi F, Williams TA, et al. ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions. J Hum Hypertens. 2016; 30: 374-378.","journal-title":"J Hum Hypertens"},{"key":"ref21","doi-asserted-by":"publisher","unstructured":"22. Zilbermint M, Xekouki P, Faucz FR, et al. Primary aldosteronism and ARMC5 variants. J Clin Endocrinol Metab. 2015; 100: E900-E909.","DOI":"10.1210\/jc.2014-4167"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"8848151","DOI":"10.1155\/2020\/8848151","article-title":"ARMC5 primary bilateral macronodular adrenal hyperplasia associated with a meningioma: a family report","volume":"2020","author":"Ferreira","year":"2020","unstructured":"23. Ferreira MJ, Pedro J, Salazar D, et al. ARMC5 primary bilateral macronodular adrenal hyperplasia associated with a meningioma: a family report. 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Probl Endokrinol (Mosk). 2019; 65: 89-94.","journal-title":"Probl Endokrinol (Mosk)"}],"container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/32\/article-p1271.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/32\/article-p1271.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/32\/article-p1271.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T11:59:17Z","timestamp":1697803157000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/164\/32\/article-p1271.xml"}},"subtitle":["Az els\u0151 hazai eset"],"short-title":[],"issued":{"date-parts":[[2023,8,13]]},"references-count":24,"journal-issue":{"issue":"32"},"URL":"https:\/\/doi.org\/10.1556\/650.2023.32817","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,13]]}}}