Matenda a Turner kapena Turner-Shereshevsky matenda ndi matenda ochepa omwe amapezeka chifukwa cha vuto la X chromosomes ndipo amapezeka mwa akazi okhaokha. Zowononga zizindikiro za matendawa malinga ndi Shershevsky zimaphatikizapo kugonana kwapakati, khungu la pterygoid limapindika pamutu ndi kupunduka kwa ziwalo za golidi. Azimayi omwe amavutika ndi matenda a Turner nthawi zambiri amakumana ndi mavuto.
Shereshevsky-Turner Syndrome - zifukwa
Monga lamulo, malo a Y-chromosome a munthu ali ndi 46 (mawiri awiri) a ma chromosome. Mwa awa, gulu limodzi liri ndi ma chromosomes a kugonana (XX mwa akazi kapena XY mwa amuna). Pankhani ya Turner's Syndrome, imodzi mwa ziwalo za X-chromosome imasowa kwathunthu kapena kuwonongeka. Zomwe kwenikweni zimayambitsa matenda osokoneza bongo omwe amachititsa kuti Turner's syndrome asakhazikitsidwe, ngakhale kuti matendawa amadziwonetsera pamtanda wa fetus, sikuti ndi cholowa.
Kukhalapo kwa matenda kumatsimikiziridwa ndi kusanthula karyotype, kutanthauza, kutanthauzira kwa majini a ma chromosomes. Zinthu zotsatirazi zotsatizana zingathe kuonedwa:
- Kacyotype yachidule ya matenda a Turner ndi 45X, ndiko kuti, kusakhala kwathunthu kwa X chromosome. Karyotype iyi imapezeka mwa odwala oposa 50%, ndipo 80 peresenti palibe X chromosome ya atate.
- Mosaic - ndiko kuti, kuwonongeka kumadera a chromosome imodzi kapena zambiri mu mtundu wa zithunzi.
- Kugwirizananso kwachinthu chimodzi cha X chromosomes: chingwe cha X chromosome, kutayika kwa chromosome ya dzanja lalifupi kapena lalitali.
Matenda a Shereshevsky-Turner - zizindikiro
Kawirikawiri kuchedwa kwa kukula kwa thupi kumaonekera ngakhale atabadwa - ndiko kutalika kwake ndi kulemera kwake kwa mwana, zimatha kuwombera ziwalo (ndizo mkatikati), kutupa kwa mapazi ndi mitengo ya kanjedza, komanso kupezeka kwa khungu la pterygoid pamutu.
Ngati matenda a Turner sanawoneke atangobereka kumene, kenako amadziwonetsera ngati zizindikiro zotsatirazi:
- kuchepa msinkhu, kawirikawiri kukula kwa chiŵerengero kumatsika mwamphamvu pambuyo pa zaka zitatu;
- chodabwitsa;
- khosi laling'ono kwambiri, nthawi zambiri ndi mapepala a zikopa;
- mzere wochepa wa tsitsi mu dera la occipital;
- Chifuwa chachikulu chomwe chimakhala ndi nthawi yayitali, nthawi zina zowonongeka;
- kuthamanga ndi mawonekedwe osazolowereka a matenda ovuta kumva;
- kuchedwa mu kutha msinkhu;
- chifuwa chopanda chitukuko paunyamata (pafupi zaka 13);
- Kusakhalitsa kwa msambo.
Pafupifupi atsikana 90% ali ndi matenda a Turner ali ndi chiberekero ndipo mazira amatha kukhala osatetezeka, ndipo alibe mphamvu ngakhale nthawi yothandizira ndi mankhwala omwe amathandiza kuti athetse kuchepetsa thupi.
Kusachedwetsa kakulidwe kaumunthu sikungatheke, ngakhale kusokonezeka kwa matenda kumatha ndipo nthawi zambiri, mavuto ena okhudzana ndi kudziwa sayansi yeniyeni yomwe imafuna chidwi chowonjezeka.
Matenda a Shereshevsky-Turner - mankhwala
Cholinga chachikulu cha chithandizo pamaso pa matenda a Turner ndikuteteza kukula kwa msinkhu komanso kugonana kwa msungwana . Poyamba matendawa amapezeka ndipo mankhwala ayambitsidwa, nthawi zambiri amatha kuchiza wodwalayo.
Kwa ichi, choyamba, mankhwala a mahomoni amagwiritsidwa ntchito, ndipo ndi nthawi yoberekera, hormone yaikazi, estrogen, yawonjezeredwa.
Pambuyo pa kutha msinkhu, mankhwala othandizira odwala omwe amawagwiritsa ntchito kapena odwala ndi estrogen ndi progestin therapy akuchitidwa.
Ngakhale kuti panthawi yomwe odwala amatha kukhala ndi moyo wathanzi, amakhala osapindula. Kukwanitsa kubereka mwana pogwiritsira ntchito mankhwala ovuta kumapezeka kokha mwa 10% mwa amayi omwe akudwala matenda a Turner, kenako ndi karyotype mu mtundu wa zojambulajambula.