Impendulo echanekileyo yokuba kutheni i-Turner syndrome ichaphazela kuphela amantombazana kukuba zombini i-phenotypically kunye ne-genotypically kukho ukungabikho kwe-Y chromosome. Esi sifo kuphela kwemonosomy esebenzayo ebantwini. Kwi Ukungabi nayo i-chromosome ye-Y kumisela isini sowesifazane, kunye nenyaniso yokuba akukho sibini, oko kukuthi, ukungabikho kwe-chromosome ye-X yesibini kugqiba ukungabikho kokuphuhliswa kweempawu zesondo eziphambili kunye nesibini.
Abasetyhini abane-Turner syndrome banenkangeleko yamantombazana kubo bonke ubomi babo. Sichaza oku kunye nezinye iimpawu zolu bunzima, oluthi ayijongwa njengesiphene, ngokuchanekileyo kwi-World Turner Syndrome Day.
Wazi nini ukuba intombazana ine-Turner syndrome?
Phantse Intombazana enye kuma-1 2500 inesifo sikaTurner syndrome, ebizwa ngokuba yi-Bonnevie-Ullrich syndrome okanye i-gonadal dysgenesis, i-monosomy usana olusanda kuzalwa, ngakumbi ukuba ineempawu zokugoba entanyeni (pterygium colli). Kodwa kusenokwenzeka ukuba ibhinqa lifumanise ukuba linengxaki. kanye xa efuna ukuba ngumama kwaye unobuzali
Ngethuba lobuntwaneni, iimpawu zobuso be-syndrome zinokuthi zingabonakali kakhulu, kwaye ubude obufutshane abuthathwa njengento engaqhelekanga xa uyijonga nje. Ekuzalweni, amantombazana e-Turner amfutshane kwaye anobunzima obungaphantsi kwamanye amantombazana. Ngethuba leminyaka yokuqala yobomi, bakhula ngokukhawuleza njengabo babudala babo, kodwa ekuhambeni kwexesha, umehluko wokuphakama ubonakala ngakumbi. Lo mahluko uphawuleka ngakumbi xa ungena ebusheni.
Esi sifo ufunyanwe yikaryotype eyenziwa kwisampulu yegazi yesigulane. Phantse isiqingatha samantombazana e-Turner aphulukene ne-X chromosome yonke, kwaye ilahleko yamalungu e-chromosomes okanye ukuxuba uninzi lwazo kwiiseli ezahlukeneyo kuxhaphakile.
Ngaba ukuxilongwa kwangaphambili kunokwenziwa?
Ewe, kunjalo, kodwa kwiimeko ezininzi, kwaye ngenxa yokuba sisifo esinezifundo ezimbalwa, akuzange kwenzeke. Nangona Ngoku iya ixhaphaka ngakumbi olwenziwa ngohlalutyo lweeseli ze-fetus, ezinokufunyanwa: i-amniocentesis (eyenziwe kwiiveki ze-14-16 zokukhulelwa), i-chorionic biopsy (ngeeveki ze-9-12 zokukhulelwa) okanye i-funiculocentesis (ukusuka kwiiveki ezingama-20 zokukhulelwa).
Ezi mvavanyo ziyenziwa xa kuvela izikrokro kwii-ultrasounds. Ezinye zezizathu eziphakamisa ukukrokra yi-hydrops fetalis, ubude obungaphantsi kwe-avareji ye-femur, i-cardiac malformations, i-branchycephaly kwaye, ngaphezu kwayo yonke, i-cystic hygroma kwi-nape yentamo.
Es Kubalulekile ukuba uxilongo lwenziwe ngokukhawuleza ukuqalisa unyango ngokukhawuleza, kwaye wenze ukuba lusebenze kangangoko. Ukupheliswa kokukhulelwa kuqwalaselwa, kodwa sisigqibo esinzima. Enkosi kwisayensi, umgangatho wobomi bamantombazana ane-Turner syndrome uye waphucuka, kwaye siyathemba ukuba uyaqhubeka ukuphucuka yonke imihla.
Iimpawu kunye nonyango
Ezona mpawu zixhaphakileyo ziquka: ubude obungaphantsi komndilili, malunga neesentimitha ezingama-20 ngaphantsi,
usulelo oluthe rhoqo lwendlebe ephakathi olukhokelela ekubeni sisithulu kwezinye iimeko, intamo emfutshane nebanzi, iinwele ezibekwe phantsi kwinape yentamo, ukudumba kwezandla neenyawo, isifuba esibanzi kunye neengono ziqelelene kakhulu, iingalo zifakwe kancinci entloko. iingqiniba ngasemva, iziphene zentliziyo yokuzalwa, i-scoliosis, izintso, i-thyroid kunye neengxaki zamathambo.
I-Turner syndrome Ayijongwa njengokukhubazeka, ngaphandle kobunzima amantombazana adlula kubo. Kwiimeko ezininzi, ubukrelekrele buqhelekile buqhelekile, nangona kukho ubunzima ekuqondeni okucacileyo, kodwa iingxaki zophuhliso zinokwenza ukufunda kube nzima okanye kunokubakho iingxaki zokuziphatha. Ngamantombazana athanda ukungazithembi, ukuxhalaba kunye nokudakumba.
Amantombazana aneTurner zinyangwa nge-hormone yokukhula kwaye iziphumo zibonisa ukuba ukuphakama kokugqibela kunokunyuswa ngo-5 ukuya kwi-10 cm. Amantombazana afikisayo afumana unyango lwe-estrogen ukucaphukisa ukuphuhliswa kweempawu zesini zesibini. Kamva ezi estrogens ziyaqhubeka zilawulwa ukuze kuthintelwe i-osteoporosis.