Chirwere chakadai seShereshevsky-Turner chirwere chinoitika kunyanya kuvasikana uye chinokura mukutanga kwekutanga kwekuita pamuviri. Inokonzerwa nekusava kwekromosomes, apo sarudzo dzepabonde dzinoputsika. Izvi zvinosanganisa hazviwanzoitiki, asi haugoni kuzvirasa.
Syndrome Shereshevsky-Turner - chii ichocho?
Masayendisiti asati awana ukama huri pakati pehutano hwevabereki uye kubudirira kwehutano hwemwana, zvakadai seT Turner's syndrome. Inonziwo Ulrich's syndrome. Mamiriro emadzimai anotarisira akaoma nekutyisidzika kwekuparara (inowanikwa mumutambo wekutanga kana wechipiri), chimiro chakaipa che toxicosis, uye kuberekwa kunowanzotanga uye kunorwara.
Vana vachangoberekwa vanogona kusununguka zvachose, asi vane zvisiri izvo. Nokuti chirwere cheShereshevsky-Turner chinozivikanwa ne:
- kuchinja muzvigunwe zvembiru;
- pterygoid mapanga mumutsipa;
- iyo itsvo yakaumbwa semabhiza.
Syndrome Shereshevsky-Turner - karyotype
Muviri womunhu unoumbwa muchizvaro kubva kune imwe sero, iyo inonzi zygote. Inoumbwa mushure mekugadzirwa kwemaketetesi maviri anotakura genetic ruzivo kubva kuvabereki vavo. Aya majekiseni anoona mune ramangwana mararamiro uye utano hwomwana. A karyotype yakakwana inogona kuva nekromosomes, yakadai se 46XX kana 46XU. Kana kushandiswa kwe gametogenesis kuchivhiringidzika, ipapo embryo ine kupesana mukubudirira.
Karyotype yevarwere vane Shereshevsky-Turner syndrome chirwere chakakomba apo X chromosome haisipo kana kuti inokanganiswa. Uku kukanganisa kunoenderana nehutano hwakaoma hwekuchinja mumuviri, uye unozviratidza mukusakwanira kwekuvandudza nhengo dzekuberekwa dzemucheche. Izvo hazvina chinhu chegonads, kune rudiment ye mavha mavari uye vas deferens.
Syndrome Shereshevsky-Turner - kuwanda kwezvinoitika
Ichi chirwere chakatanga kurondedzerwa muna 1925. Shereshevsky-Turner syndrome inoitika musikana mutsva ane zviuru zvitatu. Kuwanda kwehuwandu hwehuwandu hwechirwere ichi hunonyatsozivikanwa nekuda kwekuguma kwekudzivirira kwepamuviri mumitatu yakasiyana-siyana. Muzviitiko zvisingawanzoitiki, kufungidzirwa kwakadaro kunogadzirirwa vakomana.
Syndrome Shereshevsky-Turner - zvinokonzera
Kupindura mubvunzo pamusoro pezvinoita kuti Shereshevsky-Turner syndrome, zvakakosha kuti taure pamusoro pekusaona kwepabonde X chromosome. Kana ikashandurwa, ipapo mumuviri we embryo inoitika:
- kubviswa kwesimbi refu kana shoma;
- isochromosome X pfupi kana kuti refu;
- translocation ye X / X;
- chindori X chromosome nezvimwewo.
Kurwara kwakadaro kunowanikwa mu20% yemhosva apo pane mosaicism, somuenzaniso, 45, X0 / 46, XY kana 45, X0 / 46, XX. Iyo nzira yekuitika kwechirwere mumarume inogona kutsanangurwa ne translocation. Ngozi yekuvandudza sora reShereshevsky-Turner hairi nehupenyu hwemazuva anouya amai. Zvinogona kuitika:
- nekuda kwekunyangadza kusina kukodzera kwe zygote;
- ne kurasikirwa kwekromosome yababa.
Syndrome Shereshevsky-Turner - zviratidzo
Chirwere chacho chinogona kuratidzira zvose zviri kunze uye kubasa remukati. Paanoongororwa seShereshevsky-Turner syndrome, zviratidzo zvinogona kunge zvinotevera:
- lymphostasis;
- strabismus ;
- hypogonadism;
- nguva shoma (munhu mukuru haapfuuri masendimita 150);
- overweight;
- kusavapo kwephalanges;
- zvepabonde;
- Iyo thorax yakawedzerwa uye ine mufananidzo wevhu;
- shortened neck;
- kusagadzikana maitiro ezvinyorwa zvine chokuita nekunzwa;
- epicanthus kana ptosis (eyelid deformation);
- pigment mavara (vitiligo kana nevi).
Mumwana achangoberekwa, tsoka, maoko uye ganda rinoputika pamutsipa rinogona kukura, uye vhudzi harina kukura. Mapfupa ejaya maduku, denga rakakwirira. Mumoyo wekutsvaga kweaorta kunobvira, yakanyatsorongedzwa, uye kuvimbika kwevhesiyamu inopindira inodzvinyirirwa. Mafungiro ane chirwere chakadai sezvo Shereshevsky-Turner syndrome haitambudzi, asi kutarisa uye kutarisa zvinopera.
Zviputi zvinogara zvichiswededzwa, uye maitiro edzimba haana kunyatsogadzirwa. Izvo zvipembenene zvinosimbiswa ne-connective tishu izvo zvisingabudisi masero uye kuzora zvakakwana hazviitiki. Vasikana havanokudziri mazamu avo, hakusi kuenda kumwedzi, kutanga amorrhea anoitika, saka kubereka hakusipo zvachose. Kune ma 3 maitiro eDysgenisis: yakachena, yakajeka uye yakavhenganiswa. Izvo zvakasiyana mumakiriniki zviratidzo.
Syndrome Shereshevsky-Turner - kuongororwa
Apo ramangwana rekusveta harina X chromosome, saka kukwana kwakazara kwese kunoonekwa, Shereshevsky-Turner syndrome inoratidzwa neonatologist mune chipatara chekuberekwa kana chiremba wevana. Kana zviratidzo zvakanyanya zvechirwere zvisipo, zvino cherechedza kuti inogona kungova kuyaruka. Nyanzvi dzinopa miedzo ye:
- mahomoni anogadzira gonadotropins uye estrogen;
- kudzidza karyotype.
Panguva yekuongororwa kweShereshevsky-Turner syndrome murwere anofanirwa kushanyira ophthalmologist, nephrologist, chirwere chepfungwa, cardiologist, endocrinologist, genetics, lymphologist, gynecologist / andrologist, uye otolaryngologist. Kuziva kusakanganiswa kwechiremba vanachiremba:
- magnetic resonance imaging ;
- ultrasound kuongororwa kwetsvo uye nhengo dzomuviri;
- electrocardiogram;
- radiography;
- kuchipatara ropa test;
- densitometry.
Syndrome Shereshevsky-Turner - kurapwa
Nechirwere chakadaro, seT Turner syndrome, kurapwa kunoenderana nehurumende yeY-chromosome mu karyotype. Kana zvikawanikwa, musikana wacho anobviswa maavoes. Basa racho rinoitwa pazera remakore kusvika pakuzosvika makore makumi maviri. Chinangwa chayo chikuru ndechekudzivirira kuumbwa kwechirwere chakaipa. Mukusavapo kweiyo geni, hormone therapy inorayirwa.
Inoitwa pamakore 16-18 uye chinangwa chekurapa ndechekuti:
- kukurudzirwa kwezviito zvepabonde zvechipiri
- kudzivirira kuneta kweestrogen;
- kudzorerwa kwekuenda kumwedzi ;
- kuderera mumwero wegonadotropin.
Varwere vane chirwere cheShereshevsky-Turner vanopa mazano ekufunga, apo vanobatsirwa kurongeka munharaunda uye nekuvandudza hupenyu hwehupenyu. Nechirwere ichi, vakadzi vakawanda vanoramba vasina vana. Mushonga wacho unonyanya kurongerwa pa:
- kubviswa kwekunze kwenyika;
- mubhadharo wekuberekwa kunokanganisa mumuviri;
- kururamisa kukura;
- zvinetso zvemagetsi.
Upenyu nehupenyu hweShereshevsky-Turner
Kana chirwere chacho chikaonekwa pakutanga kwekutanga uye kurapwa kunoitwa panguva, ipapo kukura kwomwana kuchave kuripo. Mishonga yemazuva ano inobvumira vasikana kuva nevana vavo, semuenzaniso, IVF. Upenyu neTterer's syndrome kune mazano anofadza. Varwere havatamburi nekusaona kwepfungwa, asi ivo vanoratidzirwa nebasa remuviri uye neuropsychic kukanganisa.
Vanhu vane Turner's Syndrome
Nzira iri nyore yechirwere iShereshevsky-Turner mosaic syndrome. Muchiitiko ichi, mamwe masero masikati ane X chromosome, uye mamwe - maviri. Vana vane chirwere ichi havachina zviremera zvakakomba, uye zvirwere zvepabonde zvinosangana nekuenda kumwedzi hazvisi zvataurwa, saka kune mukana wekuwana pamuviri mune ramangwana. Chimiro chinonzi phenotype chiripo, asi kwete chakajeka sechinhu chinonzi monosomy.
Syndrome Shereshevsky-Turner - kutarisira upenyu
Kana iwe uchifarira mubvunzo wekuti Shereshevsky-Turner syndrome inofungidzira sei, zvino inofanira kurehwa kuti haina kuchinja mararamiro ehupenyu. Chimwe chinogona kunge chiri chepenital heart disease uye zvirwere zvinokonzera. Nekurapa kwakakodzera uye yakakodzera, varwere vanotungamirira hupenyu huripo, vanoita zvepabonde uye kunyange kugadzira mhuri.