{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T22:11:05Z","timestamp":1712009465053},"reference-count":25,"publisher":"Akademiai Kiado Zrt.","issue":"48","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,11,1]]},"abstract":"<jats:p>A szerz\u0151k 46,XY tiszta gon\u00e1ddiszgenezis (Swyer-szindr\u00f3ma) eset\u00fck k\u00f3rt\u00f6rt\u00e9net\u00e9t mutatj\u00e1k be. A Swyer-szindr\u00f3ma jellemz\u0151i a 46,XY karyotypus, primer amenorrhoea, n\u0151i bels\u0151 nemi szervek, k\u00e9toldali cs\u00edkgon\u00e1d \u00e9s a n\u0151i fenot\u00edpus. A szindr\u00f3ma sz\u00e1mos j\u00f3l ismert g\u00e9n mut\u00e1ci\u00f3j\u00e1val \u00e1ll \u00f6sszef\u00fcgg\u00e9sben, amelyek szerepet j\u00e1tszanak a heredifferenci\u00e1l\u00f3d\u00e1s kaszk\u00e1dj\u00e1ban. SRY-g\u00e9nmut\u00e1ci\u00f3 csak 10\u201315%-ban fordul el\u0151, az esetek t\u00f6bbs\u00e9g\u00e9ben a nemi differenci\u00e1l\u00f3d\u00e1sban szerepet j\u00e1tsz\u00f3 m\u00e1s g\u00e9nek hib\u00e1i okozz\u00e1k a k\u00f3rk\u00e9pet.<jats:italic>Esetbemutat\u00e1s:<\/jats:italic>A 16 \u00e9ves le\u00e1ny primer amenorrhoea miatt kereste fel az endokrinol\u00f3giai r\u00e9szleget. Fizik\u00e1lis vizsg\u00e1lattal n\u0151i fenot\u00edpust \u00e9szleltek, magass\u00e1ga 166 cm, tests\u00falya 56,5 kg volt, az eml\u0151k \u00e9s a genit\u00e1lis sz\u0151rzet fejl\u0151d\u00e9se Tanner-I., illetve -II. st\u00e1diumnak felelt meg. A k\u00fcls\u0151 nemi szervei n\u0151i t\u00edpus\u00faak voltak. Kismedencei MRI hypoplasi\u00e1s uterust \u00e9s mindk\u00e9t oldalon 5\u00d710 mm m\u00e9ret\u0171 petef\u00e9szket mutatott ki. A kromosz\u00f3mavizsg\u00e1lat 46,XY karyotypust igazolt. Az SRY \u00e9s SF1 g\u00e9nek vizsg\u00e1lata nem bizony\u00edtott mut\u00e1ci\u00f3t vagy deleti\u00f3t. A sz\u00e9rum folliculusstimul\u00e1l\u00f3 hormon \u00e9s a luteiniz\u00e1l\u00f3 hormon koncentr\u00e1ci\u00f3i emelkedettek voltak. A sz\u00e9rumtumormarker-vizsg\u00e1lat nem mutatott ki k\u00f3ros elt\u00e9r\u00e9st. A diagn\u00f3zis meg\u00e1llap\u00edt\u00e1sa ut\u00e1n profilaktikus gonadectomi\u00e1t v\u00e9geztek, a sz\u00f6vettani vizsg\u00e1lat k\u00e9toldali cs\u00edkgon\u00e1dot igazolt. A m\u0171t\u00e9t ut\u00e1n bevezetett hormonp\u00f3tl\u00f3 kezel\u00e9sre a szekunder nemi jelek fejl\u0151d\u00e9snek indultak, \u00e9s 1,5 \u00e9v m\u00falva menarche jelentkezett.<jats:italic>K\u00f6vetkeztet\u00e9sek:<\/jats:italic>A szerz\u0151k hangs\u00falyozz\u00e1k, hogy serd\u00fcl\u0151korban primer amenorrhoea eset\u00e9n mindig el kell v\u00e9gezni a karyotypus-vizsg\u00e1latot. A diagn\u00f3zis meg\u00e1llap\u00edt\u00e1sa ut\u00e1n a diszgenetikus gon\u00e1dok elt\u00e1vol\u00edt\u00e1sa javasolt a malignus elfajul\u00e1s vesz\u00e9lye miatt. Orv. Hetil., 2010,<jats:italic>48,<\/jats:italic>1991\u20131995.<\/jats:p>","DOI":"10.1556\/oh.2010.28960","type":"journal-article","created":{"date-parts":[[2010,12,8]],"date-time":"2010-12-08T02:04:55Z","timestamp":1291773895000},"page":"1991-1995","source":"Crossref","is-referenced-by-count":0,"title":["Pure 46,XY gonadal dysgenesis"],"prefix":"10.1556","volume":"151","author":[{"given":"L\u00e1szl\u00f3","family":"S\u00e1godi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erzs\u00e9bet","family":"Lad\u00e1nyi","sequence":"additional","affiliation":[{"name":"2 Borsod-Aba\u00faj-Zempl\u00e9n Megyei K\u00f3rh\u00e1z \u00e9s Egyetemi Oktat\u00f3 K\u00f3rh\u00e1z Gyermekradiol\u00f3giai Oszt\u00e1ly Miskolc"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1kos","family":"Kiss","sequence":"additional","affiliation":[{"name":"3 Borsod-Aba\u00faj-Zempl\u00e9n Megyei K\u00f3rh\u00e1z \u00e9s Egyetemi Oktat\u00f3 K\u00f3rh\u00e1z Gyermekseb\u00e9szeti Oszt\u00e1ly Miskolc"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Tar","sequence":"additional","affiliation":[{"name":"7 Heim P\u00e1l Gyermekk\u00f3rh\u00e1z Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9ria","family":"Luk\u00e1cs","sequence":"additional","affiliation":[{"name":"5 Borsod-Aba\u00faj-Zempl\u00e9n Megyei K\u00f3rh\u00e1z \u00e9s Egyetemi Oktat\u00f3 K\u00f3rh\u00e1z Genetikai Tan\u00e1csad\u00f3 Miskolc"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1roly","family":"Minik","sequence":"additional","affiliation":[{"name":"4 Borsod-Aba\u00faj-Zempl\u00e9n Megyei K\u00f3rh\u00e1z \u00e9s Egyetemi Oktat\u00f3 K\u00f3rh\u00e1z Patol\u00f3giai Oszt\u00e1ly Miskolc"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildik\u00f3","family":"V\u00e1mosi","sequence":"additional","affiliation":[{"name":"6 Borsod-Aba\u00faj-Zempl\u00e9n Megyei K\u00f3rh\u00e1z \u00e9s Egyetemi Oktat\u00f3 K\u00f3rh\u00e1z Klinikai Diagnosztikai Laborat\u00f3rium Miskolc"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/molehr\/gah135","volume":"11","year":"2005","journal-title":"Mol. 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