I-Turner's syndrome noma i-Turner-Shereshevsky syndrome yisifo esingajwayelekile esidalwa yi-genetic esiwumphumela wokungafani kwe-chromosomes X futhi kwenzeka kuphela kwabesifazane. I-triad yezibonakaliso zalesi sifo ngokusho kukaShershevsky yayihlanganisa ukuhlukunyezwa ngokobulili, isikhumba se-pterygoid entanyeni nokubola kwezingxube ze-elbow. Abesifazane abahlukunyezwa yi-Turner syndrome ngokuvamile babhekana nokuziqhenya nokungazelelwe .
I-Shereshevsky-Turner Syndrome - izizathu
Njengomthetho, isethi ye-Y-chromosome yendoda iqukethe ama-chromosomes angu-46 (ama-23). Kulezi zimbhangqwana zihlanganisa ama-chromosomes ocansini (i-XX kubesifazane noma i-XY emadodeni). Endabeni ye-Turner's Syndrome, enye yezimbili ze-X-chromosome ilahlekile ngokuphelele noma iwonakele. Yini ngempela imbangela ye-genetic anomaly eyenza i-Turner's syndrome ayilungiswanga kahle, ngoba nakuba lesi sifo sibonakala esigabeni sokubunjwa kwesisu, akuyona ifa.
Ubukhona be-syndrome buqinisekiswa ngokuhlaziywa kwe-karyotype, okungukuthi, incazelo yesethi yezofuzo zama-chromosomes. Lokhu okungajwayelekile okungezansi kwe-chromosomal kungabonwa:
- I-karyotype ye-classical ye-Turner syndrome i-45X, okungukuthi, ukungabikho okuphelele kwe-X chromosome eyodwa. Le karyotype ibonakala ngeziguli ezingaphezu kuka-50%, futhi kuma-80% amacala ayikho i-chromosome kababa kayise.
- I-Mosaic - okungukuthi, ukulimala ezindaweni ze-chromosomes eyodwa noma ngaphezulu kohlobo lwe-mosaic.
- Ukuhlelwa kabusha kwesakhiwo kwesinye se-X chromosomes: i-chromosome ye-X annular, ukulahlekelwa kwe-chromosome yesikhashana esifushane noma eside.
I-Syndrome Shereshevsky-Turner - izimpawu
Ngokuvamile ukubambezeleka kokuthuthukiswa komzimba kubonakala ngisho nasekuzalweni - lokhu kuyisilinganiso esincane kakhulu nesisindo somntwana, kungenzeka futhi ukuguqula izingxube ze-elbow (ziyi-concave ngaphakathi), ukuvuvukala kwezinyawo nezintende zezandla, nokubonakala kwesikhumba se-pterygoid entanyeni.
Uma ngabe i-Turner's syndrome ayitholakali ngokushesha ngemva kokuzalwa, ngokuhamba kwesikhathi ibonakala ngesimo sezimpawu ezilandelayo:
- ukuphuza ukukhula, ngokuvamile izinga lokukhula lihla kakhulu ngemva kweminyaka emithathu;
- isihluthulelo se-chamfered chin;
- intamo ende emfushane, ngokuvamile ephethe izikhumba zesikhumba;
- umugqa ophansi wezinwele ukukhula esifundeni se-occipital;
- isifuba esikhulu esinezikhala ezihlukene, ngezinye izikhathi ezingenalutho;
- ukuhamba nokungajwayelekile kwesimo se-auricle, isifo senhliziyo njalo;
- ukubambezeleka ekufikeni kwentsha;
- isifuba esingathuthuki ekukhuleni (eminyakeni engaba ngu-13);
- ukungabikho komjikelezo wokuya esikhathini.
Amantombazane angama-90% ane-Turner's syndrome anesibeletho futhi ama-ovari akwazi ukuthuthukiswa, futhi angenasifo ngisho nangokwelashwa okufika ngesikhathi kanye nokwelashwa kwama-hormonal okusiza ukuqeda ukubambezeleka kokuthuthukiswa ngokomzimba.
Ukuncishiswa kokuthuthukiswa kwengqondo ngokuvamile akubhekwa, nakuba kunenkinga yokukhathazeka okungenakwenzeka futhi, ezimweni ezingavamile, izinkinga ezithile ezihlotshaniswa nokuqonda kahle isayensi efuna ukunakekelwa okukhulu.
Syndrome Shereshevsky-Turner - ukwelashwa
Umgomo oyinhloko wokwelashwa phambi kwe-Turner's syndrome ukuqinisekisa ukukhula okujwayelekile nokuvuthwa ngokocansi kwentombazane . Ngaphambi kwalokho lesi sifo sitholakale futhi ukwelashwa kuqalisiwe, amathuba amaningi okuthuthukiswa okujwayelekile kwesiguli.
Kulokhu, okokuqala, ukwelashwa kwe-hormone kusetshenziswa, futhi ngesikhathi sokukhulelwa, i-hormone yesifazane, i-estrogen, ifakwe kuwo.
Ngemuva kokufinyelela ekufikeni kwentsha, i-hormone yokwelashwa esikhundleni sokushintshwa noma i-estrogen kanye nokwelapha kwe-progestin kwenziwa.
Naphezu kokuthi iziguli zokwelashwa zingahlakulela ngokujwayelekile futhi ziholele impilo evamile yobulili, zingenasithelo. Ikhono lokubeletha ingane ngokusebenzisa ukwelashwa okuyinkimbinkimbi litholakala ku-10% kuphela kwabesifazane ababhekene ne-Turner's syndrome, bese bephethe i-karyotype ngohlobo lwe-mosaic.