Iyini i-Turner Syndrome? Ake sifunde ngalesi simo esithinta amantombazane

Njengomama noma ubaba, iphupho lakho elikhulu ukubona ingane yakho iphilile futhi ijabule. Kodwa ngezinye izikhathi, izingane zingaba nezinkinga zempilo okungekho noyedwa kithi owayezilindele. I-Turner Syndrome ingenye yezifo ezingavamile zofuzo ezithinta amantombazane kuphela. Ungase wesabe uma uzwa leli gama. Kodwa ungakhathazeki. Ake sixoxe ngakho konke kalula nangokucacile.

Kalula nje, iyini i-Turner Syndrome?

Lesi akusona isifo esithelelanayo, futhi akuyona into oyenzile kabi. Lesi yisimo sofuzo ngokuphelele.

Cabanga ukuthi imizimba yethu yakhiwe izigidi zamangqamuzana amancane. Ngaphakathi kwe-nucleus yeseli ngayinye kunezinto ezibizwa ngokuthi "ama-chromosome" anquma uhlelo lonke lomzimba wethu, okuhlanganisa umbala wezinwele, umbala wamehlo, nokuphakama. Ngokuvamile, owesifazane unama-chromosome amabili 'X' (XX) kuseli ngalinye. Indoda ine-chromosome eyodwa 'X' kanye ne-chromosome eyodwa 'Y' (XY).

Ingane yesifazane ene-Turner syndrome ayinawo wonke noma ingxenye yawo wonke la ma-chromosome amabili 'X'. Lokhu kwenzeka ngesikhathi sokukhulelwa esibelethweni sikamama.

Kunezinhlobo eziningana eziyinhloko zalesi simo:

• I-Monosomy X: Lolu uhlobo oluvame kakhulu. Lapha, kune-chromosome eyodwa kuphela 'X' kuwo wonke amaseli omzimba.
• I-Mosaic Turner syndrome: Lapha, amanye amangqamuzana emzimbeni anama-chromosome amabili 'X', kanti amanye amangqamuzana ane-chromosome eyodwa 'X' kuphela. Izimpawu zingase zibe zincane kakhulu.
• Ukukhubazeka kwe-chromosome X: Ngezinye izikhathi i-chromosome eyodwa ethi 'X' ingase ibe ephelele, kanti enye ingase ibe khona ingxenye yayo kuphela.

Ziyini izimpawu ze-Turner syndrome?

Izimpawu zalesi simo zingahluka kakhulu kumuntu nomuntu. Ezinye izingane zizalwa zinezimpawu, kanti ezinye ziba nezimpawu ngesikhathi sobuntwana noma sobusha. Ngezinye izikhathi izimpawu zicashile kangangokuthi lesi simo singase singabonwa kuze kube yilapho sesikhulile.

Ungasibona kanjani lesi simo?

Uma udokotela wakho esola lokhu ngenxa yokubukeka kwengane yakho noma izinkinga zokukhula kwayo, uzokwenza izivivinyo eziningana ukuze akuqinisekise.

• Ngesikhathi sokukhulelwa: Lesi simo singatholakala kusenesikhathi ngesampula yegazi elithathwe kumama (i-NIPT - Ukuhlolwa Kwangaphambi Kokubeletha Okungangeneleli) noma ngokuhlola uketshezi olusesibelethweni (i-amniocentesis).
• Ngemva kokuzalwa: Ukuhlolwa okubaluleke kakhulu ukuhlolwa kwe-karyotype . Lokhu kuhilela ukuthatha isampula yegazi lomntwana, ukuthatha "isithombe" sama-chromosome, nokufuna i-chromosome X engekho.

Ngaphezu kwalokho, udokotela angase ancome ukuhlolwa okufana ne-echocardiogram kanye ne-ultrasound scan ukuze kuhlolwe noma yiziphi izinkinga ngenhliziyo, izinso kanye nokuzwa.

Iphathwa futhi iphathwa kanjani?

Ngenxa yokuthi i-Turner syndrome iyisimo sofuzo, ayikwazi "ukwelashwa" ngokuphelele. Kodwa-ke, izinkinga eziningi zempilo ezihlobene nayo zingaphathwa ngempumelelo enkulu, kusize ingane iphile impilo enempilo nejwayelekile.

Kunezindlela ezimbili eziyinhloko zokwelapha:

1. Ukwelashwa ngama-Growth Hormone: Lokhu kwelashwa kuvame ukuqala esemncane lapho ingane itholakala ukuthi inokukhula okuphazamisekile. Umjovo onikezwa izikhathi eziningana ngesonto usiza ingane ukuthi ifinyelele ukuphakama kwayo okuphezulu ngangokunokwenzeka.

2. Ukwelashwa nge-estrogen: Lokhu kwelashwa kuvame ukuqala cishe eminyakeni yokuthomba (cishe eminyakeni eyi-11-12). I-estrogen iyi-hormone ekhiqizwa ngokwemvelo emzimbeni wentombazane. Lokhu kwelashwa kusiza ngenqubo evamile yokuvuthwa ngokocansi emantombazaneni, njengokukhula kwamabele kanye nokuya esikhathini.

Usizo oluvela eqenjini lodokotela abangochwepheshe

Ngenxa yokuthi laba bantwana bangaba nezinkinga ezivela ezindaweni eziningi ezahlukene, ukwelashwa kuvame ukunikezwa yithimba lodokotela abangochwepheshe.

• Udokotela Wezingane: Uyakhathalela impilo yonke yengane.
• Isazi se-Endocrinologist yezingane: Sigxile ezinkingeni zokukhula kanye nama-hormone.
• Udokotela Wenhliziyo: Uhlola ukuthi kukhona yini inkinga ngenhliziyo.
• Udokotela Wezinso: Uhlola umsebenzi wezinso.
• Abanye ochwepheshe: Uma kudingeka, usizo lochwepheshe bezinkinga zendlebe, impumulo, umphimbo, amathambo kanye nokufunda nalo luyafunwa.

Uma nisebenza njengeqembu ngale ndlela, ninganikeza ingane yakho ukunakekelwa okungcono kakhulu.

Yini ongayenza njengomzali?

Kuvamile ukuzizwa udangele futhi ukhathazekile uma ufunda into efana nale. Kodwa khumbula, awuwedwa.

• Thola kusenesikhathi: Uma ubona noma yikuphi ukubambezeleka noma ushintsho ekukhuleni kwengane yakho, bona udokotela ngokushesha okukhulu. Uma lesi sifo sitholakala kusenesikhathi, ukwelashwa kungashesha futhi imiphumela ingaba ngcono.
• Yaziswa: Funda kabanzi ngalesi simo. Lokhu kuzokusiza ukuthi wenze izinqumo ezifanele zengane yakho futhi uxoxe ngezinto nodokotela wakho.
• Thola ukwesekwa: Khuluma nabanye abazali abanezingane ezinjengalezi. Okuhlangenwe nakho kwabo kungaba umthombo omkhulu wesikhuthazo. Futhi, kuhle empilweni yengqondo yengane yakho uma yazi ukuthi kukhona abanye abafana nabo.
• Cabanga ngempilo yengqondo:Lolu hambo lungaba yinselele kuwe kanye nasenganeni yakho. Funa iseluleko uma kudingeka. Siza ekwakheni ukuzethemba kwengane yakho. Yazisa amakhono ayo.