Isifo esinjalo njenge-Shereshevsky-Turner syndrome ivela ikakhulu kumantombazana kwaye ikhula kwi-trimester yokuqala yokukhulelwa. Yibangelwa ukungabikho kwama-chromosomes, xa isethi yeengqungquthela zesondo ziphulwa. Olu xilongo aluqhelekanga, kodwa awukwazi ukululahla.
I-Syndrome Shereshevsky-Turner - yintoni na?
Izazinzulu azikafumananga ubudlelwane phakathi kwempilo yabazali kunye nophuhliso lwesifo somntwana, njenge-Turner's syndrome. Kwakhona kuthiwa yi-Ulrich's syndrome. Umqathango womama okhuselekileyo unzima ngethuba lokuphuphuma kwesisu (zivela kwi-trimester yokuqala okanye yesibini), uhlobo olunzima lwe-toxicosis, kunye nokuzalwa kudla kwangaphambili kwaye kunentsholongwane.
Iintsana ezisandul 'ukuzalwa zisebenza ngokufanelekileyo, kodwa zinezinto ezingaqhelekanga. Kuba isifo se-Shereshevsky-Turner sibonakaliswe ngu:
- utshintsho kwielingi;
- i-pterygoid iphosa entanyeni;
- Iinjongo zifakwe njenge-horseshoe.
I-Syndrome Shereshevsky-Turner - karyotype
Umzimba womntu ukhiwa kwisibeleko kwisinye iseli, esibizwa ngokuba yi-zygote. Yakhiwa emva kokuhlanganiswa kwama-gametes ama-2 athatha ulwazi lwe-genetic kubazali babo. Ezi zityalo zizimisela kwixesha elizayo uhlobo kunye nempilo yengane. I-karyotype eqhelekileyo ingaba neethaphu ze-chromosomes, ezifana ne-46XX okanye i-46XU. Ukuba inkqubo ye-gametogenesis iyaphazamiseka, i-embryo ilahlekile ekuphuhlisweni.
I-Karyotype yezigulane ezine-Shereshevsky-Turner syndrome yingozi kakhulu xa i-chromosome ye-X engekho okanye iphazamisekile. Oku kuphambuka kuhambelana nesakhiwo esiyinkimbinkimbi seenguqu kumzimba, kwaye sibonakalisa ukuphuhliswa okwaneleyo kwimizimba yokuzala yomntwana. Azingenayo into yegonads, kukho i-odies kunye nee-deferens.
I-Syndrome Shereshevsky-Turner - ukuvama kwesiganeko
Esi sifo saqala sichazwa ngo-1925. I-Shereshevsky-Turner syndrome ivela kwintombazana esandula kuzalwa yamawaka amathathu. Ixesha lamanani lamanani lale sifo aliziwa ngokuchanekileyo ngenxa yokupheliswa ngokukhawuleza kokukhulelwa kwii-trimesters ezahlukahlukeneyo. Kwiimeko ezinqabileyo kakhulu, ukuxilongwa okunjalo kuyenzela abafana.
I-Syndrome Shereshevsky-Turner - izizathu ze
Ukuphendula umbuzo malunga nento ebangela i-Shereshevsky-Turner syndrome, kuyimfuneko ukusho malunga nokungafani kwesondo X i-chromosome. Ukuba utshintshile, ngoko emzimbeni wombungu uyabonakala:
- ukususwa kwesandla eside okanye esifutshane;
- I-isochromosome X ngeengalo ezimfutshane okanye ezinde;
- ukudluliselwa kwe X / X;
- cwangcisa i-x chromosome njalonjalo.
Ezi ntsholongwane zenzeke kwi-20% yamatyala xa kukho umongo, umzekelo, 45, i-X0 / 46, i-XY okanye i-45, i-X0 / 46, i-XX. Indlela yokwenzeka kwesi sifo kumadoda ingachazwa ngokutshintshiselwa. Umngcipheko wokuphuhlisa i-Shereshevsky-Turner syndrome ayihambelani nexesha lomama ozayo. Oku kwenzeka:
- ngenxa yokuchithwa kakubi kwe-zygote;
- kunye nokulahlekelwa kwechromosome yomntwana.
I-Syndrome Shereshevsky-Turner - iimpawu
Esi sifo singabonakalisa zombini ngaphandle nangomsebenzi wezitho zangaphakathi. Xa ufumanisa ukuba yi-Shereshevsky-Turner syndrome, iimpawu zingenzeka ngale ndlela:
- lymphostasis;
- i-strabismus ;
- u-hypogonadism;
- Isiqu esifutshane (umntu omdala akadluli kwi-150 cm);
- u bunzima;
- ukungabikho kwama-phalanges;
- isondo somzimba;
- I-thorax ikhulisiwe kwaye inesimo somdumba;
- mfutshane;
- isimo esingaqhelekanga se-auricles esichaphazela ukuvalelwa;
- i-epicanthus okanye i-ptosis (i-eyelidi deformation);
- ii-pigment spots (vitiligo okanye nevi).
Kubantwana abasandul 'ukuzalwa, iinyawo, izandla kunye nesikhumba esikhonkqayo entanyeni singakhula, kunye neenwele azikhuli. Amathambo omhlathi ancinane, isibhakabhaka siphezulu. Kwintliziyo ye-aorta inokwenzeka, inqabileyo, kwaye ingqibelelo ye-septum ye-interventricular iphazamiseka. Isimo sengqondo esinesi sifo njengoko i-Shereshevsky-Turner syndrome engabandezelekayo, kodwa ingqalelo kunye neengcamango ziyacinywa.
Iimbumba zihlala zifakwe ngaphakathi, kwaye izitho zangasese azivelanga kakuhle. Iingqungquthela zitshintshwa zizicubu ezinxulumene ezingenzi iiseli kunye nokuvuthwa okupheleleyo. Amantombazana awanakwandisi amabele abo, akukho mva, i-amenorrhea eyona nto ivela, ngoko kuvelisa kubakho ngokupheleleyo. Kukho iintlobo ezi-3 ze-dysgenesis: zicocekile, ziphazamiseke kwaye zixutywe. Ahluke kwimibonakalo yeklinikhi.
I-Syndrome Shereshevsky-Turner - ukuxilongwa
Xa i-future fetus ingenayo i-chromosome ye-X, i-monosomy igqityiwe iyagqitywa, i-Shereshevsky-Turner syndrome ibonakaliswe yi-neonatologist kwisibhedlele sokubeleka okanye kwisikolo sezingane. Ukuba iimpawu eziphambili zesifo azikho, ke qaphela ukuba kunokuphela kwintshukumo. Iingcali zinika iimvavanyo malunga:
- iirmone ezibeka i-gonadotropins kunye ne-estrogen;
- kufunda i karyotype.
Ngexesha lokuxilongwa kwe-Shereshevsky-Turner syndrome isigulane kufuneka sihambele i-ophthalmologist, i-nephrologist, ugqirha we-cardiologist, i-cardiologist, i-endocrinologist, i-genetics, i-lymphologist, i-gynecologist / andrologist kunye ne-otolaryngologist. Ukuchonga okungaqhelekanga ugqirha:
- ukucatshulwa kwemifanekiso emagnini ;
- Ukuhlolwa kwe-ultrasound yeentso kunye nezitho zomzimba;
- electrocardiogram;
- i radiography;
- vavanyo lwegazi;
- densitometry.
I-Syndrome Shereshevsky-Turner - unyango
Ngenxa yokuxilongwa okunjalo, njenge-Turner syndrome, unyango luxhomekeke kwiimeko ze-Y-chromosome kwikaryotype. Ukuba zifunyenwe, le ntombazana isuswe ngama-ovari. Umsebenzi uqhutyelwa kumncinane ukuya kufikelela kwiminyaka eyi-20. Injongo yaso ephambili kukukhusela ukubunjwa kwesifo esibi. Ukungabikho kwesi sifo, unyango lwe-hormone lubekwe.
Kuqhutyelwa kwiminyaka eyi-16 ukuya kwe-18 kwaye injongo ephambili yonyango kukuba:
- uphuhliso lweempawu zesondo zesibini;
- ukukhusela i-estrogen;
- Ukubuyiselwa komjikelezo wesini ;
- kuncipha kwinqanaba le-gonadotropins.
Izigulane ezine-syndrome ye-Shereshevsky-Turner zifumana iingcebiso zengqondo, apho zincedwa ukuba zijonge kuluntu kwaye ziphucule umgangatho wobomi. Esi sifo, abaninzi abasetyhini bahlala bengenamntwana. Unyango lujoliswe ngoku:
- ukupheliswa kweziphene zangaphandle;
- imbuyekezo yokungabikho kokuzalwa komzimba emzimbeni;
- ukulungiswa kokukhula;
- iingxaki zeempawu.
Ubomi kunye nesifo sikaShereshevsky-Turner
Ukuba isifo sifumaneka kwinqanaba lokuqala kwaye unyango luqhutywa ngexesha, ngoko ukukhula komntwana kuya kukhangela. Amachiza anamhlanje avumela amantombazana ukuba abe nabantwana babo, umzekelo, IVF. Ubomi kunye ne-Turner's syndrome bukhombisekile. Izigulane azihlupheki ngokwengqondo, kodwa zithathwa ngumsebenzi wenyama kunye neuropsychic.
Abantu abane-Turner's Syndrome
Ifomu elula yesifo yi-Shereshevsky-Turner mosaic syndrome. Kule meko, ezinye iiseli zesini zine-X ye-chromosome, kunye nezinye - ezimbini. Abantwana abanalo ukuxilongwa abanalo iziphoso ezinzulu, kwaye iintsholongwane zesondo ezithintekayo ekuhambeni kwexesha azichazwanga, ngoko ke kukho ithuba lokukhulelwa kwikamva. Imbonakalo ye-phenotype ikhona, kodwa ingabi ngokukhazimulayo njengokuba i-monosomy.
I-Syndrome Shereshevsky-Turner - ixesha lokuphila
Ukuba unomdla kumbuzo woluphi uhlobo lwe-Shereshevsky-Turner syndrome olusisigxina, ngoko kufuneka kuthiwa ayichaphazeli ixesha lokuphila. Ikhefu lingaba sisifo senhliziyo esisenyameni kunye nezifo ezithintekayo. Xa unyango olufanelekileyo kunye nexesha elifanelekileyo, izigulana zikhokela ubomi obuqhelekileyo, zineqabane lamalungu esondo kunye nokudala iintsapho.