{"id":166887,"date":"2022-02-25T10:19:00","date_gmt":"2022-02-25T09:19:00","guid":{"rendered":"https:\/\/sdk.mk\/?p=166887"},"modified":"2022-02-25T10:19:00","modified_gmt":"2022-02-25T09:19:00","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-majer-rokitanski-kaster-hauzer","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-majer-rokitanski-kaster-hauzer\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA MAJER-ROKITANSKI-KASTER-HAUZER"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><em><strong>Sindroma Majer-Rokitanski-Kaster-Hauzer\/\/Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) syndrome<\/strong><\/em><\/p>\n<p>ICD: Q 51.0\/Q 52<\/p>\n<p>Prevalenca: 1\/4-5.000<\/p>\n<p>Sindroma Majer-Rokitanski-Kaster-Hauzer (MRKH) paraqet s\u00ebmundje e rrall\u00eb kongjenitale q\u00eb prek grat\u00eb. Karakterizohet nga moszhvillimi i mitr\u00ebs dhe vagin\u00ebs tek femrat por q\u00eb kan\u00eb funksion normal t\u00eb vezoreve dhe organe gjenitale t\u00eb jashtme normale. Grat\u00eb me k\u00ebt\u00eb s\u00ebmundje zhvillojn\u00eb karakteristika normale sekundare seksuale gjat\u00eb pubertetit (p.sh. zhvillimi i gjirit dhe qimet pubike), por nuk kan\u00eb nj\u00eb cik\u00ebl menstrual deri n\u00eb mosh\u00ebn 16 vje\u00e7 (nj\u00eb gjendje e quajtur amenore primare).<br \/>\nEmri i sindrom\u00ebs \u00ebsht\u00eb nj\u00eb eponim mjek\u00ebsor p\u00ebr nder t\u00eb kat\u00ebr mjek\u00ebve q\u00eb hulumtuan k\u00ebt\u00eb gjendje &#8211; August Franz Joseph Karl Meyer (1787-1865), Karl Freicherr von Rocitansky (1804-1878), Hermann Custer (1879-1964) dhe George Andre. Hauser (1921-2009).<\/p>\n<p><strong>Shkaqet:<\/strong><\/p>\n<p>Shkaqet etiologjike t\u00eb k\u00ebsaj sindrome mbeten t\u00eb panjohura. Supozimet p\u00ebr ndikimet ambientale nuk jan\u00eb v\u00ebrtetuar asnj\u00ebher\u00eb, por nuk p\u00ebrjashtohen, nd\u00ebrkoh\u00eb q\u00eb jan\u00eb zbuluar disa gjene q\u00eb besohet se lidhen me shfaqjen e k\u00ebsaj s\u00ebmundjeje: gjeni LHX1, gjeni SHOX dhe TBX 6. Gjendja shfaqet me zhvillim jo i plot\u00eb i kanalit paramezonefral (Miller duktus). Embriologjikisht kjo struktur\u00eb shnd\u00ebrrohet n\u00eb mit\u00ebr, tub fallopian, qaf\u00ebn e mitr\u00ebs dhe pjes\u00ebn e sip\u00ebrme t\u00eb vagin\u00ebs. S\u00ebmundja mendohet t\u00eb jet\u00eb autosomale dominante, q\u00eb do t\u00eb thot\u00eb se nj\u00eb kopje e gjenit t\u00eb mutuar \u00ebsht\u00eb e mjaftueshme q\u00eb t\u00eb shfaqet sindroma MRKH.<\/p>\n<p><strong>Shenjat dhe simptomat:<\/strong><\/p>\n<p>Simptomat e k\u00ebsaj sindrome ndryshojn\u00eb nga nj\u00eb grua n\u00eb tjetr\u00ebn. Para se t&#8217;i diskutojm\u00eb ato, kjo sindrom\u00eb ndahet n\u00eb dy lloje.<\/p>\n<p><strong>1. Sindroma Majer-Rokitanski-Kaster-Hauzer (MRKH) tip 1<\/strong><\/p>\n<p>Kjo form\u00eb e sindrom\u00ebs MRKH njihet edhe si aplazia e izoluar e Millerit, ose sekuenca Rokitanski. S\u00ebmundja karakterizohet nga pamund\u00ebsia p\u00ebr tu zhvilluar si\u00e7 duhet mitra dhe vagina. M\u00eb shpesh mitra dhe\/ose vagina nuk jan\u00eb zhvilluar aspak (aplazia), kurse m\u00eb rrall\u00eb shfaqet atrezia, dmth. ngushtimi i segmentit t\u00eb sip\u00ebrm t\u00eb vagin\u00ebs, kurse mitra \u00ebsht\u00eb e pazhvilluar ose rudimentare. N\u00eb disa raste p\u00ebrfshihen edhe tubat fallopiane. Vezoret (vezoret) n\u00eb k\u00ebt\u00eb sindrom\u00eb jan\u00eb t\u00eb paprekura dhe funksionojn\u00eb mjaft normalisht. Simptoma fillestare \u00ebsht\u00eb amenorea primare. Shenjat dyt\u00ebsore seksuale zhvillohen normal. Libido \u00ebsht\u00eb gjithashtu normale. Megjithat\u00eb, p\u00ebr shkak t\u00eb munges\u00ebs s\u00eb mitr\u00ebs ose tubave fallopiane t\u00eb zhvilluara si\u00e7 duhet, t\u00eb gjith\u00eb individ\u00ebt e prekur jan\u00eb infertil\u00eb. Gjithashtu, grat\u00eb me k\u00ebt\u00eb sindrom\u00eb shpesh kan\u00eb dispareuni (marr\u00ebdh\u00ebnie seksuale t\u00eb dhimbshme) p\u00ebr shkak t\u00eb shkurt\u00ebsis\u00eb s\u00eb vagin\u00ebs.<\/p>\n<p><strong>2. Sindroma Majer-Rokitanski-Kaster-Hauzer (MRKH) tip 2<\/strong><\/p>\n<p>N\u00ebse jan\u00eb t\u00eb pranishme anomalit\u00eb q\u00eb karakterizojn\u00eb sindrom\u00ebn MRKH t\u00eb tipit 1 dhe krahas tyre kemi anomali shtes\u00eb t\u00eb organeve t\u00eb tjera, at\u00ebher\u00eb flasim p\u00ebr tipin 2 t\u00eb k\u00ebsaj sindrome. M\u00eb shpesh k\u00ebto jan\u00eb anomali n\u00eb zhvillimin e veshkave (adisplazia renale), si dhe keqformime t\u00eb ndryshme skeletore, m\u00eb s\u00eb shpeshti vertebrale. M\u00eb pak t\u00eb zakonshme jan\u00eb anomalit\u00eb kardiake dhe d\u00ebgjimore.<\/p>\n<p>Grat\u00eb e prekura me sindrom\u00ebn MRKH t\u00eb tipit II mund t\u00eb ken\u00eb munges\u00eb e nj\u00ebr\u00ebs veshk\u00eb, keqformime t\u00eb nj\u00ebr\u00ebs ose t\u00eb dy veshkave, veshka hipoplastike dhe\/ose ektopi renale. Anomalit\u00eb renale mund t\u00eb shkaktojn\u00eb probleme n\u00eb rritje, nefrolitiaz\u00eb, infeksione t\u00eb traktit urinar, hidronefroz\u00eb.<\/p>\n<p>P\u00ebrsa i p\u00ebrket keqformimeve skeletore, jan\u00eb t\u00eb zakonshme displazit\u00eb vertebrale cervikale dhe torakale, anomalit\u00eb dhe aplazit\u00eb q\u00eb mund t\u00eb n\u00ebnkuptojn\u00eb shkurtim t\u00eb shtyll\u00ebs kurrizore, l\u00ebvizje t\u00eb kufizuara n\u00eb nj\u00eb segment t\u00eb caktuar, asimetri, skolioz\u00eb, etj. Gjithashtu jan\u00eb t\u00eb mundshme deformime, si mungesa e brinj\u00ebve, buza e lepurit, asimetria e fytyr\u00ebs, mikrognatia etj. N\u00eb disa raste, problemet e d\u00ebgjimit jan\u00eb t\u00eb pranishme p\u00ebr shkak t\u00eb anomalive strukturore t\u00eb veshit t\u00eb mes\u00ebm ose nervit d\u00ebgjimor (nervi vestibulokoklear). Keqformime t\u00eb vet\u00eb veshit jan\u00eb gjithashtu t\u00eb mundshme.<\/p>\n<p>Anomalit\u00eb e ekstremiteteve dhe keqformimet e zemr\u00ebs jan\u00eb m\u00eb pak t\u00eb zakonshme. Anomalit\u00eb e gjymtyr\u00ebve p\u00ebrfshijn\u00eb mungesa e gisht\u00ebrinjve (ektodaktili), ngjitja e gisht\u00ebrinjve (sindaktili), dyfishimin e gishtit t\u00eb madh, etj. Keqformimet kardiake p\u00ebrfshijn\u00eb: defektin e septumit atrial, stenoz\u00ebn e valvul\u00ebs pulmonare dhe tetralogjin\u00eb Fallot.<\/p>\n<p><strong>Diagnoza dhe trajtimi:<\/strong><\/p>\n<p>Zakonisht kjo sindrom\u00eb diagnostikohet menj\u00ebher\u00eb pasi q\u00eb konstatohet amenorea primare. Disa e zbulojn\u00eb at\u00eb krejt rast\u00ebsisht, s\u00eb bashku me nj\u00eb keqformim tjet\u00ebr kongjenital ose duke luftuar me infertilitetin.<\/p>\n<p>Trajtimi i k\u00ebsaj s\u00ebmundje \u00ebsht\u00eb i orientuar drejt simptomave specifike q\u00eb jan\u00eb t\u00eb pranishme. Ai \u00ebsht\u00eb individual dhe p\u00ebrfshin nj\u00eb ekip specialist\u00ebsh q\u00eb trajtojn\u00eb n\u00eb m\u00ebnyr\u00eb t\u00eb koordinuar. Ata mund t\u00eb jen\u00eb pediat\u00ebr ose internist\u00eb, gjinekolog\u00eb, nefrolog\u00eb, endokrinolog\u00eb, ortoped\u00eb, kirurg\u00eb plastik\u00eb, psikiat\u00ebr, fiziat\u00ebr. Trajtimi mund t\u00eb jet\u00eb kirurgjikal ose jokirurgjikal.<\/p>\n<p>Trajtimi i aplazis\u00eb vaginale zgjidhet me neovagin\u00eb. N\u00ebse \u00ebsht\u00eb e nevojshme, vaginoplastika kryhet me kirurgji plastike. P\u00ebr shkak se pacient\u00ebt me sindrom\u00ebn MRKH nuk kan\u00eb nj\u00eb mit\u00ebr funksionale, ata nuk mund t\u00eb mbeten shtatz\u00ebn\u00eb. Megjithat\u00eb, k\u00ebtu hyn n\u00eb loj\u00eb fekondimi in vitro i vez\u00ebve t\u00eb tyre dhe mund\u00ebsia e implantimit t\u00eb tyre tek nj\u00eb n\u00ebn\u00eb surrogate, n\u00eb m\u00ebnyr\u00eb q\u00eb k\u00ebto gra t\u00eb b\u00ebhen edhe n\u00ebna.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sindroma Majer-Rokitanski-Kaster-Hauzer\/\/Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) syndrome ICD: Q 51.0\/Q 52 Prevalenca: 1\/4-5.000 Sindroma Majer-Rokitanski-Kaster-Hauzer (MRKH) paraqet s\u00ebmundje e rrall\u00eb kongjenitale q\u00eb prek [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166888,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/25-Mayer-Rokitansky-Kuster-Hauser-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/25-Mayer-Rokitansky-Kuster-Hauser-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"339","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - 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