Yintoni iTurner Syndrome? Masifunde ngale meko ichaphazela amantombazana

Njengomama okanye utata, iphupha lakho elikhulu kukubona umntwana wakho ephilile kwaye onwabile. Kodwa ngamanye amaxesha, abantwana banokuba neengxaki zempilo esingazilindelanga. I-Turner Syndrome yenye yeengxaki zemfuza ezingaqhelekanga ezichaphazela amantombazana kuphela. Usenokoyika xa usiva eli gama. Kodwa ungakhathazeki. Masithethe ngayo yonke into ngokulula nangokucacileyo.

Ngamafutshane, yintoni i-Turner Syndrome?

Esi asisosifo esosulelayo, kwaye asikuko into oyenzileyo kakubi. Esi sisifo esibangelwa yimfuza ngokupheleleyo.

Khawuthelekelele ukuba umzimba wethu wenziwe zizigidi zeeseli ezincinci. Ngaphakathi kwi-nucleus yeseli nganye kukho izinto ezibizwa ngokuba yi-"chromosomes" ezimisela yonke isicwangciso somzimba wethu, kubandakanya umbala weenwele, umbala wamehlo, kunye nokuphakama. Ngokwesiqhelo, umfazi unee-chromosomes ezimbini 'X' (XX) kwiseli nganye. Indoda ine-chromosome enye 'X' kunye ne-chromosome enye 'Y' (XY).

Umntwana oyintombazana one-Turner syndrome akanazo zonke okanye inxalenye yazo zonke ezi chromosome zimbini 'X'. Oku kwenzeka ngexesha lokumitha esibelekweni sikamama.

Kukho iintlobo ezininzi eziphambili zale meko:

• I-Monosomy X: Olu lolona hlobo luqhelekileyo. Apha, kukho i-chromosome enye 'X' kwiseli nganye yomzimba.
• Isifo sikaMosaic Turner: Apha, ezinye iiseli emzimbeni zinee-chromosomes ezimbini 'X', ngelixa ezinye iiseli zine-chromosome enye 'X'. Iimpawu zihlala zingabi nkulu kangako.
• Ukungasebenzi kakuhle kwe-chromosome X: Ngamanye amaxesha i-chromosome enye ethi 'X' isenokuba iphelele, ngelixa enye isenokuba ikhona kancinci.

Ziziphi iimpawu ze-Turner syndrome?

Iimpawu zale meko zinokwahluka kakhulu kumntu nomntu. Abanye abantwana bazalwa beneempawu, ngelixa abanye beba neempawu ngexesha lobuntwana okanye lokufikisa. Ngamanye amaxesha iimpawu azibonakali kangako kangangokuba imeko isenokungabonwa de kube mdala.

Ungayibona njani le meko?

Ukuba ugqirha wakho ukrokrela oku ngenxa yenkangeleko yomntwana wakho okanye iingxaki zokukhula, uza kwenza iimvavanyo ezininzi ukuqinisekisa oko.

• Ngexesha lokukhulelwa: Le meko inokubonwa kwangethuba ngesampulu yegazi ethathwe kumama (NIPT - Non-Invasive Prenatal Testing) okanye ngokuvavanya ulwelo olusesibelekweni (amniocentesis).
• Emva kokuzalwa: Uvavanyo olubaluleke kakhulu luvavanyo lwe-karyotype . Oku kuquka ukuthatha isampuli yegazi lomntwana, ukuthatha "ifoto" yee-chromosomes, kunye nokukhangela i-chromosome X engekhoyo.

Ukongeza, ugqirha unokucebisa iimvavanyo ezifana ne-echocardiogram kunye ne-ultrasound scan ukujonga naziphi na iingxaki zentliziyo, izintso kunye nokuva.

Iphathwa kwaye ilawulwa njani?

Ngenxa yokuba i-Turner syndrome yimeko yemfuza, ayinakunyangwa ngokupheleleyo. Nangona kunjalo, uninzi lweengxaki zempilo ezinxulumene nayo zinokulawulwa ngempumelelo, zincede umntwana aphile ubomi obusempilweni nobuqhelekileyo.

Kukho iindlela ezimbini eziphambili zonyango:

1. Unyango lweHormone yoKhula: Olu nyango ludla ngokuqaliswa emncinci xa umntwana efunyaniswa ukuba ukhula kancinci. Inaliti enikwa amaxesha amaninzi ngeveki inceda umntwana ukuba afikelele kubude obuphezulu kangangoko.

2. Unyango lwe-estrogen: Olu nyango ludla ngokuqaliswa malunga neminyaka yokufikisa (malunga neminyaka eli-11-12). I-estrogen yi-hormone eveliswa ngokwemvelo emzimbeni wentombazana. Olu nyango lunceda kwinkqubo eqhelekileyo yokuvuthwa ngokwesondo kumantombazana, njengokukhula kwamabele kunye nokuya exesheni.

Uncedo oluvela kwiqela loogqirha abaziingcali

Ngenxa yokuba aba bantwana banokuba neengxaki ezivela kwiindawo ezahlukeneyo, unyango ludla ngokunikezelwa liqela loogqirha abaziingcali.

• Ugqirha wabantwana: Ukhathalele impilo iyonke yomntwana.
• Ingcali ye-Endocrinologist yabantwana: Ingcali kwiingxaki zokukhula kunye neehomoni.
• Ingcali yentliziyo: Uhlola ukuba kukho ingxaki na entliziyweni.
• Ingcali yezifo ze-Nephrologist: Ihlola umsebenzi wezintso.
• Ezinye iingcali: Njengoko kufuneka, uncedo lweengcali zendlebe, impumlo, umphimbo, amathambo kunye neengxaki zokufunda nazo ziyafuneka.

Xa nisebenza njengeqela ngale ndlela, ninokubonelela ngononophelo olungcono kumntwana wenu.

Ungenza ntoni njengomzali?

Kuqhelekile ukuba uzive ulusizi kwaye ukhathazekile xa ufunda into efana nale. Kodwa khumbula, awuwedwa.

• Chonga kwangethuba: Ukuba ubona naluphi na ulibaziseko okanye utshintsho ekukhuleni komntwana wakho, bona ugqirha ngokukhawuleza. Okukhona isifo sichongwa kwangethuba, kokukhona unyango lunokuqala ngokukhawuleza kwaye iziphumo zinokuba ngcono.
• Fumana ulwazi: Funda okungakumbi ngale meko. Oku kuya kukunceda wenze izigqibo ezifanelekileyo kumntwana wakho kwaye uxoxe ngezinto nogqirha wakho.
• Fumana inkxaso: Thetha nabanye abazali abanabantwana abanjengaba. Amava abo anokuba ngumthombo omkhulu wokhuthazo. Kwakhona, kulungile kwimpilo yengqondo yomntwana wakho xa esazi ukuba kukho abanye abafana nabo.
• Cinga ngempilo yengqondo:Olu hambo lunokuba ngumceli mngeni kuwe nakumntwana wakho. Funa ingcebiso ukuba kuyimfuneko. Nceda umntwana wakho akhe ukuzithemba. Zixabise izakhono zakhe.