I-Turner's syndrome okanye i-Turner-Shereshevsky syndrome yisifo esingaqhelekanga sesifo se-genetic esisiphumo se-X chromosomes kwaye senziwa kuphela kubafazi. Uhlobo lwesithathu lweempawu zolu hlobo ngokubhekiselele kuShershevsky luquka ukuhlukunyezwa ngokwesondo, i-pterygoid isikhumba esikhankanyeni entanyeni kunye nobunzima bomzimba. Abasetyhini abanesifo se-Turner syndrome bahlala benamava kunye nokungazinzi .
I-Shereshevsky-Turner Syndrome - izizathu
Njengomgaqo, i-Y-chromosome isethi yomntu iqulethwe ngamanqanaba angama-46 (ii-23) zama-chromosomes. Kwezi zinto, enye ibini iquka i-chromosomes yesini (i-XX kwabasetyhini okanye i-XY kumadoda). Kwimeko ye-Turner's Syndrome, enye yeendidi ze-X-chromosome ilahlekile ngokupheleleyo okanye ingonakali. Yiyiphi impela imbangela ye-genetic anomaly eyenza i-Turner's syndrome ayilungiswanga ngokucacileyo, ekubeni nangona isifo sibonakala kwisigaba sokubunjwa komntwana, akusiyo ilifa.
Ubukho be-syndrome buqinisekiswa ngoluhlalutyo lwekaryotype, oko kukuthi, inkcazo yesethi yemfuza yama-chromosomes. Ezi zilandelayo ze-chromosomal ezingaqhelekanga zingabonwa:
- I-karyotype yeklasiyo ye-Turner syndrome i-45X, oko kukuthi, ukungafiki ngokupheleleyo kwe-X ye-chromosome. Le karyotype ibonwa kwii-50% zezigulane, kwaye kuma-80% amacala akakhokho i-chromosome engumzali.
- UMoses - oko kukuthi, umonakalo kwiindawo zenye okanye ezinye i-chromosomes ngohlobo lwe-mosaic.
- Ukulungiswa kwakhona kwesakhiwo sesinye se-X i-chromosomes: i-annular X ye-chromosome, ukulahleka kwe-chromosome yengalo emfutshane okanye ende.
I-Syndrome Shereshevsky-Turner - iimpawu
Ngokuqhelekileyo ukulibaziseka ekuphuculeni ngokwenyama kuyabonakala nakwixesha lokuzalwa - oku kukuphakama okuncinci kunye nokunyaniseka kwengane, kunokwenzeka ukuba ulungele izibilini ze-elbow (i-concave ngaphakathi), ukuvuvukala kweenyawo kunye neentende, kunye nobukho besikhumba se-pterygoid entanyeni.
Ukuba i-Turner's syndrome ayifumananga ukuba kungekudala emva kokuzalwa, kamva ibonakalisa ngendlela yeempawu ezilandelayo:
- ukukhawuleza ukukhula, ngokuqhelekileyo izinga lokukhula lihla kakhulu emva kweminyaka emithathu;
- ehlanjululwayo;
- Intamo ende emfutshane, kaninzi ngeengxowa zesikhumba;
- umgca ophantsi wezinwele zokukhula kwindawo yesipiliti;
- isifuba esiphezulu ngokubanzi, ngezinye iimbumba eziphosakeleyo;
- isimo esingaqhelekanga nesimo esingaqhelekanga se-auricle, izifo zendlebe eziqhelekileyo;
- ukulibaziseka ekufikeni;
- isifuba esingakhubazekayo ebusheni (malunga neminyaka eyi-13);
- ukungabikho komjikelezo wesini.
Phantse ama-90% amantombazana ane-Turner's syndrome anesibeleko kwaye ama-ovari awanakuphuhliswa, kwaye awanako ukufumana unyango olufanelekileyo ngexesha elifanelekileyo kunye ne-hormonal therapy eyenza ukuphelisa ukulibaziseka ekuphuculeni ngokomzimba.
Ukunciphisa ukuphuhliswa kwengqondo kaninzi kungabonakali, nangona ingxaki yokulahleka kwengxaki inokwenzeka kwaye, kwiimeko ezinqabileyo, iingxaki ezithile ezihambelana nokuqonda i-science echanekileyo efuna ukunyuka kwengqalelo.
I-Syndrome Shereshevsky-Turner - unyango
Injongo ephambili yonyango phambi kwe-Turner's syndrome kukuqinisekisa ukukhula okuqhelekileyo kunye nokuvuthwa kwezesondo ze ntombazana . Ekuqaleni isifo sifumaneka kwaye unyango luqalisiwe, amathuba amaninzi okuphuhliso oluqhelekileyo lwesigulane.
Ngenxa yoko, okokuqala, unyango lwe-hormone lisetyenzisiweyo, kwaye ngexesha lokukhulelwa, i-hormone yesibini, isrogen, yongezwa kuyo.
Emva kokufikeleleka kobuntwaba, i-hormone yonyango yokutshintshwa okanye i-estrogen kunye nonyango lwe-progestin lwenziwa.
Nangona kwimeko yokuba izigulane ziyakhula ngokuqhelekileyo kwaye zikholise ubomi obuqhelekileyo ngokwesondo, zingenasiphelo. Ukukwazi ukubeletha umntwana ngokusetyenziswa kwonyango oluyinkimbinkimbi lufumaneka kuphela kwi-10% yabasetyhini abaneengxaki ze-Turner's syndrome, kunye ne-karyotype ngendlela yomongo.