Masifunde nje ngeTurner Syndrome, echaphazela intombi yakho.

Ngaba ngamanye amaxesha uvakalelwa kukuba intombi yakho imfutshane kunabanye abantwana? Nangona abanye abahlobo bayo abaneminyaka efanayo sele befikelele kwinqanaba lokufikisa, intombi yakho ayikabonisi ezo mpawu? Kuqhelekile ukuba umama okanye utata azive esoyika kwaye ekhathazekile ngezinto ezinje. Uninzi lwexesha, ezi zizinto eziqhelekileyo. Nangona kunjalo, ngamanye amaxesha isizathu soku sinokuba yimeko ekhethekileyo yemfuza ebizwa ngokuba yi-'Turner Syndrome' echaphazela kuphela amantombazana. Akufuneki soyike xa sisiva eli gama. Namhlanje, siza kuthetha ngokulula nangokucacileyo malunga nokuba yintoni le, kutheni isenzeka, kunye nento enokwenziwa ngayo.

Ngamafutshane, yintoni i-Turner Syndrome?

I-Turner syndrome yimeko yemfuza yokuzalwa echaphazela amantombazana kuphela. Ayisuleli.

Masibuyele kwibhayoloji ukuze sikuqonde oku. Ngamafutshane, iseli nganye emzimbeni wethu ine 'chromosomes' ezimisela ulwazi lwethu lwemfuza (ubude bethu, umbala, inkangeleko, njl.njl.). Ngokwesiqhelo, iseli yabasetyhini ineechromosomes ezimbini zesini ezibizwa ngokuba yi-X (XX). Iseli yamadoda ine-X enye kunye ne-Y enye (XY).

I-Turner syndrome yimeko apho umntwana oyintombazana engenazo zonke okanye inxalenye yazo zonke ii-chromosomes ezimbini ze-X. Esi sisiganeko esingahleliwe esenzeka ngexesha lokukhulelwa okanye ngexesha lesigaba sokuzalwa komntwana. Kubalulekile ukukhumbula ukuba oku akubangelwanga yimpazamo kamama okanye utata .

Le meko inokuchaphazela umntwana ngamnye ngeendlela ezahlukeneyo, kodwa kukho iimpawu ezimbini eziphambili eziqhelekileyo:

1. Ukuba mfutshane kunabanye (ubude obufutshane)

2. Ama-ovari angasebenzi kakuhle , oko kuthetha ukuba ukufikisa kunye nokukwazi ukuba nabantwana kuyachaphazeleka.

Zithini iimpawu? Siyibona njani le nto?

Abanye abantwana babonisa ezi mpawu xa bezalwa. Kwabanye, iimpawu zibonakala kancinci kancinci ebuntwaneni. Ngamanye amaxesha, oku akukrokrelwa de kube mdala. Ke ngoko, kubaluleke kakhulu ukuzazi ezi mpawu.

Ngamanye amaxesha uvavanyo lwangaphambi kokukhulelwa, olufana ne-ultrasound scan ngexesha lokukhulelwa, lunokunika izikhokelo. Umzekelo, ukuba umntwana ubonakala ngathi kukho ulwelo emva kwentamo yakhe, okanye ukuba kukho ingxaki ngentliziyo okanye izintso zakhe, oogqirha banokuba nomdla.

Ngaba kukho iintlobo eziphambili ze-Turner syndrome?

Ewe, kukho iintlobo ezimbini eziphambili ngokuxhomekeke kwindlela eyenzeka ngayo le meko.

I-Monosomy X

Olu lolona hlobo luxhaphakileyo. Kulapho i-chromosome enye ye-X ingekho khona ngokupheleleyo kwiseli nganye emzimbeni womntwana. Oku kudla ngokubangelwa sisiphene esingacwangciswanga kwiqanda likamama okanye isidoda sikatata ngexesha lokukhulelwa. Iimpawu zihlala zibonakala ngakumbi kolu hlobo.

Isifo sikaMosaic Turner

Njengoko igama elithi 'mosaic' lisitsho, okwenzekayo apha kukuba inxalenye okanye yonke i-chromosome X ayikho kwezinye iiseli zomzimba womntwana.Ezinye iiseli zineekhromosomu eziqhelekileyo (XX). Cinga ngomzimba wethu njengodonga olwenziwe ngezitena ezincinci (iiseli). Kwimeko ye-mosaic, zimbalwa kuphela izitena ezinalo mahluko. Ezinye ziqhelekile. Le yimpazamo engaqhelekanga eyenzeka ngexesha lokwahlukana kweeseli ngexesha lesigaba sombungu. Oku kunokubangela iimpawu ezimbalwa, kwaye kunokuba nzima kancinci ukuxilonga.

Zeziphi ezinye iingxaki zempilo (iingxaki) ezinokubakho ngenxa yale meko?

Abantwana abane-Turner syndrome basengozini enkulu yokuba neengxaki ezithile zempilo, ngoko ke kubalulekile ukuba bahlolwe rhoqo ngugqirha.

Ugqirha uyixilonga njani le nto?

Ugqirha angasixilonga esi sifo ngaphambi okanye emva kokuba umntwana ezelwe.

Ngaphambi kokuzalwa:

• I-NIPT (Uvavanyo lokukhulelwa olungangenisi umhlaza): Le yindlela yokuvavanya ulwazi lwemfuza losana kusetyenziswa isampuli yegazi ethathwe kumama okhulelweyo.
• I-ultrasound scan: Oku kunokucingelwa ukuba i-scan ibonisa iimpawu zeengxaki zentliziyo yomntwana, izintso, okanye ulwelo oluqokelelene emva kwentamo.
• I-Amniocentesis: Le meko inokuqinisekiswa ngokupheleleyo ngokuthatha isampuli yolwelo lwe-amniotic olujikeleze umntwana kunye nokwenza uvavanyo lwemfuza (uhlalutyo lwe-karyotype) kwiiseli zomntwana.

Emva kokuzalwa:

Emva kokuba umntwana ezelwe, ukuba ugqirha ukrokrela ukuba kukho into engalunganga ngokusekelwe kwiimpawu zomntwana, uya kuyalela uvavanyo lwegazi olubizwa ngokuba yi-'karyotyping.' Oku kuquka ukuthatha isampuli yegazi nokuhlola ii-chromosomes phantsi kwe-microscope ukuze kuqinisekiswe ukuba i-chromosome X ayikho na, iphelele okanye inxalenye yayo.

Zithini iindlela zonyango? Ngaba inganyangeka ngokupheleleyo?

Okokuqala, kuba i-Turner syndrome yimeko yemfuza, ayinakunyangwa ngokupheleleyo.

Unyango lugxile kakhulu kwiihomoni.

• Unyango lwehomoni yokukhula komntu: Olu nyango lubaluleke kakhulu ukwandisa ubude bomntwana. Olu lujovo lwehomoni olunikwa yonke imihla. Ukuba olu nyango luqalwa esemncinci, oko kukuthi, kwangoko nje ukuba kuqatshelwe ukuba ukukhula kuhamba kancinci, umntwana uya kukwazi ukufikelela kubude obuhle.
• Unyango lwe-estrogen: Amantombazana amaninzi ane-Turner syndrome awavelisi i-estrogen ngokwendalo, ngoko ke adla ngokunikwa i-estrogen evela ngaphandle ngexesha lokufikisa (malunga neminyaka eli-11-12 ubudala). Yile nto ibangela iimpawu zokufikisa, njengokukhula kwamabele kunye nokuqala kokuya exesheni. Ikwabalulekile nakwimpilo yamathambo aqinileyo kunye nempilo yentliziyo.
• Unyango lweProgestin: Emva kweminyaka embalwa yonyango lwe-estrogen, ihomoni ebizwa ngokuba yi-progestin inikwa ukugcina umjikelo wokuya esikhathini ngokwendalo.

Ukongeza kolu nyango lweehomoni, kubalulekile ukufuna unyango kunye nokuhlolwa rhoqo kwiingcali ezifanelekileyo malunga neengxaki ekuthethwe ngazo ngaphambili (ezifana nesifo sentliziyo, iingxaki zezintso, kunye nokukhubazeka kokuva).

Ndifanele ndithethe nini nogqirha ngomntwana wam?

Kubaluleke kakhulu ukufumanisa isifo nokuqala unyango ngokukhawuleza.

Hlala ujonge ukukhula komntwana wakho kunye neziganeko ezibalulekileyo. Ukuba ucinga ukuba intombi yakho imfutshane kakhulu kunabanye abantwana abaneminyaka yakhe, okanye ukuba ibonisa naziphi na iimpawu zomzimba ezikhankanyiweyo apha ngasentla, musa ukulibazisa ukuthetha nogqirha wezingane.

Kukho ezinye izinto ezimbini ezibalulekileyo ezicetyiswa ngoogqirha:

• Ukuhlolwa kweengxaki zokufunda: Kungumbono olungileyo ukuqaphela ukukhula komntwana wakho kwangethuba, mhlawumbi xa eneminyaka eli-1-2 ubudala, uze ujonge iingxaki zokufunda. Ukuba zikhona, ungathetha nootitshala esikolweni uze unike umntwana inkxaso ekhethekileyo ayidingayo.
• Ukufuna inkxaso yempilo yengqondo: Kubaluleke kakhulu ukufuna uncedo kumcebisi wezempilo yengqondo (ingcali yezengqondo yabantwana) ukuze uncede umntwana wakho akwazi ukumelana neengxaki zentlalo, ukuzithemba okuphantsi, kunye nokuxhalaba okuvela xa ephila nale meko.

Nangona ixesha lokuphila lomntwana one-Turner syndrome lisenokuba lifutshane kancinci kunelo labantu ngokubanzi, ngokulawulwa rhoqo ngugqirha, unyango olufike ngexesha, kunye nokulawulwa kakuhle kweengxaki zempilo, banokuphila ubomi obuqhelekileyo nobunolonwabo.