Xws li muaj tus kab mob hu ua Shereshevsky-Turner syndrome no tshwm sim los ntawm cov ntxhais thiab tsim nyob hauv thawj peb lub hlis cev xeeb tub. Nws yog tshwm sim los ntawm kev txheeb ze ntawm chromosomes, thaum txheej kev qev qis raug ua txhaum. Qhov kev kuaj no yog tsawg kawg, tab sis koj tsis tuaj yeem tshem ntawm nws.
Syndrome Shereshevsky-Turner - dab tsi yog nws?
Cov kws tshawb fawb tseem tsis tau pom kev sib raug zoo ntawm kev noj qab haus huv ntawm niam txiv thiab kev loj hlob ntawm tus me nyuam tus mob, xws li Turner's syndrome. Nws tseem hu ua Ulrich's syndrome. Tus mob ntawm leej niam leej txiv yog ib qho nyuaj los ntawm txoj kev ntshai ntawm kev ua yuam kev (lawv tshwm sim hauv thawj zaug los yog zaum ob lub trimester), ib hom mob toxicosis, thiab kev yug menyuam feem ntau ntxov ntxov thiab muaj pathologies.
Cov menyuam yug tshiab muaj peev xwm ua tau, tab sis muaj kev txawv txav. Rau lub syndrome ntawm Shereshevsky-Turner mas yog:
- kev hloov hauv lub luj tshib;
- pterygoid folds nyob rau hauv lub caj dab;
- lub raum yog zoo li ib tug zoo li ib tug horseshoe.
Syndrome Shereshevsky-Turner - karyotype
Tib neeg lub cev yog tsim nyob rau hauv lub tsev menyuam ntawm ib lub cell, uas yog hu ua zygote. Nws yog tsim tom qab fusion ntawm 2 gametes nqa cov ntaub ntawv keeb kwm los ntawm lawv niam lawv txiv. Cov noob no txiav txim siab rau yav tom ntej qhov xwm txheej thiab kev noj qab nyob zoo ntawm tus me nyuam. Karyotype ib txwm ua tau chromosomes, xws li 46XX lossis 46 XU. Yog hais tias tus txheej txheem ntawm gametogenesis yog disturbed, ces lub embryo muaj deviations nyob rau hauv kev loj hlob.
Karyotype ntawm cov neeg mob uas hu ua Shereshevsky-Turner syndrome yog ib txoj kev ua mob loj heev thaum tus X chromosome tsis tuaj yeem los sis cuam tshuam. Qhov kev sib txawv no yog los ntawm cov yam ntxwv ntawm cov kev hloov hauv lub cev, thiab ua rau nws tus kheej ua tsis zoo hauv kev loj hlob ntawm qhov kev sib deev ntawm tus me nyuam hauv plab. Lawv tsis muaj lub hauv paus ntawm cov gonads, muaj ib tug rudiment ntawm lub zes qe menyuam thiab lub vas deferens.
Syndrome Shereshevsky-Turner - zaus ntawm tshwm sim
Tus kab mob no thawj zaug tau piav txog 1925. Shereshevsky-Turner syndrome tshwm sim nyob rau hauv ib tug ntxhais mos liab ntawm peb txhiab. Tam sim no cov pejxeem muaj tus kabmob no yog tsis paub meej vim yog txoj kev tso tawm ntawm cev xeeb tub hauv ntau yam kabmob (trimesters). Thaum tsis tshua muaj heev, xws li kev kuaj mob yog ua rau cov tub hluas.
Syndrome Shereshevsky-Turner - qhov ua rau ntawm
Teb cov lus nug txog dab tsi ua rau Shereshevsky-Turner syndrome, nws yuav tsum tau hais txog qhov kev sib deev ntawm tus poj niam txiv neej X chromosome. Yog hais tias nws yog hloov, ces nyob rau hauv lub cev ntawm lub embryo tshwm sim:
- tshem tawm ntawm qhov ntev lossis luv caj npab;
- isochromosome X nyob rau sab ntev lossis ntev;
- translocation ntawm X / X;
- nplhaib X chromosome thiab hais txog.
Cov kab mob no tshwm sim hauv 20% ntawm cov mob thaum muaj mos mos xav, piv txwv, 45, X0 / 46, XY lossis 45, X0 / 46, XX. Cov mechanism ntawm tshwm sim ntawm tus kab mob nyob rau hauv cov txiv neej yuav piav qhia los ntawm translocation. Txoj kev pheej hmoo ntawm kev tsim muaj lub npe hu ua Shereshevsky-Turner syndrome no tsis yog hais txog lub hnub nyoog ntawm niam tom ntej. Nws tuaj yeem tshwm sim:
- vim qhov tsis zoo ntawm qhov zygote;
- nrog rau kev ploj ntawm tus niam txiv chromosome.
Syshrome Shereshevsky-Turner - cov tsos mob
Tus kab mob no tuaj yeem tshwm sim rau sab nrauv thiab ntawm kev ua haujlwm ntawm cov hauv nruab nrog cev. Thaum kuaj tau tias yog Shereshevsky-Turner syndrome, cov tsos mob yuav yog raws li nram no:
- lymphosphate;
- strabismus ;
- hypogonadism;
- luv luv stature (tus neeg laus tsis tshaj 150 cm);
- rog dhau;
- tsis muaj phalanges;
- kev sib deev kev sib deev;
- Lub vas sab yog lub dav dua thiab muaj lub taub haum;
- shortened lub caj dab;
- tsis zoo ntawm lub auricles uas cuam tshuam rau lub rooj sib hais;
- epicanthus los yog ptosis (deel deformation);
- cov xim pigment (vitiligo los yog nevi).
Hauv cov menyuam mos liab, cov taw, tes thiab tawv nqaij ntawm caj dab tuaj yeem tuaj, thiab plaub hau tsis tuaj. Cov pob txha ntawm lub puab tsaig me me, lub ntuj siab. Nyob rau hauv lub plawv coarctation ntawm lub aorta yog ua tau, nws yog stratified, thiab lub meej mom ntawm lub intervenedricular septum yog disturbed. Lub hlwb lub cev nrog xws li ib tug kab mob raws li tus Shereshevsky-Turner syndrome tsis raug kev txom nyem, tab sis kev mloog thiab kev xav yog dissipated.
Cov txiv neej yeej ib txwm kos, thiab cov qoob loo tsis zoo. Cov qog raug hloov los ntawm cov nqaij ntshiv uas tsis tsim cov qe ntshav dawb thiab tsis tuaj yeem tshwm sim. Cov ntxhais tsis ua lawv lub hauv siab, yog tsis muaj menyuam yaus, thawj amenorrhea tshwm sim, yog li no fertility tsis tuaj kiag li. Muaj 3 hom mob dysgenesis: ntshiab, qhov muag plooj thiab tov. Lawv txawv hauv cov kev mob tshwm sim.
Syndrome Shereshevsky-Turner - mob
Thaum lub fetus yav tom ntej tsis muaj X chromosome, tom qab tiav cov monosomy yog pom, Shereshevsky-Turner syndrome tau qhia los ntawm neonatologist hauv lub tsev kho mob los yog cov kws kho menyuam yaus. Yog hais tias tus yam ntxwv tseem ceeb ntawm tus kab mob tsis tuaj yeem, ces pom tias nws tuaj yeem pub dawb. Cov kws kho mob tshwj xeeb muab cov kev ntsuam xyuas rau:
- cov tshuaj hormones uas txiav txim siab gonadotropins thiab estrogen;
- kawm karyotype.
Thaum tus mob hu ua Shereshevsky-Turner syndrome no tus neeg mob yuav tsum mus xyuas tus kws kho mob, tus kws kho mob, tus kws phais mob, tus kws kho mob, kws kho mob, kws kho mob, tus kws kho mob, tus kws kho mob, kws kho mob thiab kws kho mob. Kom paub txog kev txawv txav cov kws kho mob xaiv:
- magnetic resonance imaging ;
- kuaj ultrasound ntawm ob lub raum thiab qhov chaw mos plab;
- electrocardiogram;
- duab hluav taws xob;
- kuaj ntshav;
- densitometry.
Syndrome Shereshevsky-Turner - kev kho mob
Nrog rau kev kuaj mob, raws li Turner Syndrome, kev kho mob nyob ntawm cov xeev Y-chromosome hauv karyotype. Yog tias lawv pom, tus ntxhais tshem tawm ntawm lub zes qe menyuam. Lub lag luam yog ua tiav thaum muaj hnub nyoog txog thaum mus txog 20 xyoo. Nws lub hom phiaj tseem ceeb yog los tiv thaiv qhov tsim muaj qog nqaij hlav. Thaum tsis muaj cov noob no, hormone therapy yog kws kho mob.
Nws yog ua tiav thaum 16-18 xyoo thiab lub hom phiaj tseem ceeb ntawm kev kho yog:
- kev loj hlob ntawm kev sib deev yam ntxwv;
- kev tiv thaiv tsis pub lwm tus neeg;
- restoration ntawm kev coj khaub ncaws ;
- txo nyob rau theem ntawm gonadotropins.
Cov neeg mob muaj lub npe hu ua Shereshevsky-Turner uas muaj kev pab tswv yim rau kev xav, uas lawv tau pab txhim kho hauv zej zog thiab txhim kho lub neej zoo. Nrog rau tus kabmob no, feem ntau cov pojniam nyob tsis ua haujlwm. Cov kev kho mob tsuas yog tsom rau:
- tshem tawm tsis xws luag;
- Nyiaj them rau qhov kev sib deev hauv lub cev;
- kev kho ntawm kev loj hlob;
- teeb meem metabolic.
Lub neej nrog lub syndrome ntawm Shereshevsky-Turner
Yog tias tus kab mob no tshwm sim nyob rau thaum ntxov thiab qhov kev kho tau ua tiav raws sij hawm, ces tus me nyuam txoj kev loj hlob yuav raug coj mus ua kom cev. Cov tshuaj niaj hnub pub rau cov menyuam ntxhais kom tau lawv tus menyuam, piv txwv li, IVF. Lub neej nrog Turner's syndrome muaj kev twv ua ntej. Cov neeg mob tsis raug kev txom nyem los ntawm kev puas siab puas ntsws, tab sis lawv raug tiv thaiv los ntawm cev nqaij daim tawv mob thiab kev nyuab siab rau lub hlwb.
Cov neeg nrog Turner's Syndrome
Ib qho yooj yim ntawm tus kab mob yog qhov Shereshevsky-Turner mosaic Syndrome. Hauv qhov no, qee tus poj niam lub hlwb muaj X chromosome, thiab so - ob. Cov menyuam uas muaj tus kabmob no tsis muaj teebmeem loj, thiab kev sib deev nrog kev ua haujlwm nrog pojniam cev tsis tshua meej, yog li yuav muaj sijhawm rau cev xeeb tub yav tom ntej. Cov tsos phenotype yog tam sim no, tab sis tsis li kaj li hauv monosomy.
Syndrome Shereshevsky-Turner - lub neej kev cia siab
Yog tias koj xav paub txog qhov teeb meem ntawm Shereshevsky-Turner syndrome no, ces nws yuav tsum tau hais tias nws tsis cuam tshuam rau lub neej txoj kev cia siab. Ib qho kev zam tsuas yog mob plawv thiab muaj kab mob hauv lub plawv. Nrog rau kev kho kom zoo thiab siv sijhawm, cov neeg mob ua rau lub neej zoo, muaj kev sib deev nrog lwm tus thiab tsim kom muaj tsev neeg.