Isifo sikaTurner

I-Turner syndrome yimeko enqabileyo yemvelo apho umntu obhinqileyo engenazo ii-chromosomes ze-X eziqhelekileyo.

Inani eliqhelekileyo leekromosomes zabantu ngama-46. IiChromosomes ziqulathe zonke iijini zakho kunye neDNA, iibhloko zokwakha zomzimba. Ezimbini kwezi chromosomes, ii-chromosomes zesini, zichonga ukuba uyinkwenkwe okanye intombazana.

• Abasetyhini bahlala benama-chromosomes afanayo ngokwesini, abhalwe njenge-XX.
• Amadoda ane-X kunye ne-Y chromosome (ebhalwe njenge-XY).

Kwi-Turner syndrome, iiseli azikho konke okanye inxenye ye-X chromosome. Imeko yenzeka kuphela kwabasetyhini. Ngokuqhelekileyo, umntu obhinqileyo one-Turner syndrome une-1 X ye-chromosome kuphela. Abanye banokuba nee-chromosomes ezi-2 X, kodwa enye yazo ayiphelelanga. Ngamanye amaxesha, umntu obhinqileyo uneeseli ezithile ezine-chromosomes ezi-2 X, kodwa ezinye iiseli zine-1 kuphela.

Iziphumo ezinokubakho zentloko nentamo zibandakanya:

• Iindlebe ziphantsi.
• Intamo ibonakala ibanzi okanye ifana newebhu.
• Uphahla lomlomo lumxinwa (inkalakahla ephezulu).
• I-hairline ngasemva kwentloko isezantsi.
• Umhlathi ongezantsi usezantsi kwaye ubonakala ngathi uphelile (buyela kwakhona).
• Ukujikisa iinkophe kunye namehlo owomileyo.

Ezinye iziphumo zinokubandakanya:

• Iminwe neenzwane zimfutshane.
• Izandla neenyawo zidumbile kwiintsana.
• Iikhonkwane zincinci kwaye zijike ziye phezulu.
• Isifuba sibanzi kwaye sicaba. Iingono zibonakala zibanzi kakhulu.
• Ukuphakama ngexesha lokuzalwa kuhlala kuncinci kunomyinge.

Umntwana one-Turner syndrome mfutshane kakhulu kunabantwana abakwiminyaka efanayo nesini. Oku kubizwa ngokuba kukufutshane. Le ngxaki ayinakuqatshelwa kumantombazana ngaphambi kweminyaka eli-11.

Ukufikisa kunokuba kungabikho okanye kungagqibi. Ukuba ukufikisa kwenzeka, kuhlala kuqala kubudala obuqhelekileyo. Emva kobudala bokufikisa, ngaphandle kokuba unyangwe ngehomoni yabasetyhini, ezi ziphumo zinokubakho:

• Izinwele ze-Pubic zihlala zikhona kwaye ziqhelekile.
• Ukukhula kwebele akunakwenzeka.
• Ukuya exesheni akukho okanye kukhanya kakhulu.
• Ukoma kwesini kunye nentlungu yokuhlangana ziqhelekile.
• Ukungachumi.

Ngamanye amaxesha, ukuxilongwa kwe-Turner syndrome akunakwenziwa kude kube ngumntu omdala. Ingafunyanwa kuba umntu obhinqileyo ukhanya kakhulu okanye akanakho ukuya exesheni kwaye uneengxaki zokukhulelwa.

I-Turner syndrome inokufumaneka nakweliphi na inqanaba lobomi.

Inokufunyanwa ngaphambi kokuzalwa ukuba:

• Uhlalutyo lwe-chromosome lwenziwa ngexesha lokuvavanywa kokubeleka.
• I-cystic hygroma kukukhula okuhlala kwenzeka entloko nasentanyeni. Oku kufumanisa kunokubonwa kwi-ultrasound ngexesha lokukhulelwa kwaye kukhokelela kuvavanyo oluthe kratya.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye ajonge iimpawu zophuhliso lwe-atypical. Iintsana ezine-Turner syndrome zihlala zidumbile izandla neenyawo.

Olu vavanyo lulandelayo lunokwenziwa:

• Amanqanaba ehomoni yegazi (i-luteinizing hormone, i-estrogen, kunye ne-follicle-evuselela i-hormone)
• Echocardiogram
• Ukuchwetheza
• I-MRI yesifuba
• I-Ultrasound yamalungu okuzala kunye nezintso
• Uvavanyo lwePelvic

Olunye uvavanyo olunokuthi lwenziwe ngamaxesha athile lubandakanya:

• Uvavanyo lwegazi
• Ukuhlolwa kwe-thyroid
• Uvavanyo lwegazi ngee-lipids kunye ne-glucose
• Ukuva ukuvavanywa
• Uvavanyo lwamehlo
• Ukuvavanywa koxinano lwamathambo

Ukukhula kwehomoni kunokunceda umntwana one-Turner syndrome ukuba akhule abe mde.

I-Estrogen kunye nezinye iihormoni zihlala ziqala xa intombazana ineminyaka eli-12 okanye eli-13 ubudala.

• Olu ncedo lubangela ukukhula kwamabele, iinwele ze-pubic, ezinye iimpawu zesini, kunye nokukhula kubude.
• Unyango lwe-Estrogen luyaqhubeka ebomini de kube lixesha lokuyeka ukuya exesheni.

Abasetyhini abane-Turner syndrome abanqwenela ukukhulelwa banokucinga ngokusebenzisa iqanda lomnikeli.

Abasetyhini abane-Turner syndrome banokufuna ukhathalelo okanye ukubeka esweni kwezi ngxaki zempilo zilandelayo:

• Ukwenziwa kweekeloid
• Ukuphulukana nokuva
• Igazi elonyukayo
• Seswekile
• Ukucutha amathambo (i-osteoporosis)
• Ukwandiswa kwe-aorta kunye nokunciphisa i-valve ye-aortic
• Iimpawu
• Ukutyeba kakhulu

Eminye imiba inokubandakanya:

• Ulawulo lobunzima
• Zilolonge
• Inguqu ebudaleni
• Uxinzelelo kunye noxinzelelo ngenxa yotshintsho

Abo bane-Turner syndrome banokuba nobomi obuqhelekileyo xa bejongwa ngononophelo ngumboneleli wabo.

Ezinye iingxaki zempilo zingabandakanya:

• Idlala lengqula
• Iingxaki zezintso
• Usulelo lwendlebe oluphakathi
• Scoliosis

Akukho ndlela yaziwayo yokuthintela i-Turner syndrome.

Isifo seBonnevie-Ullrich; Idongenesis yeGonadal; Monosomy X; XO

• Ukuchwetheza

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ISorbara JC, iWherrett DK. Ukuphazamiseka ekukhuleni kwesondo. Ku: UMartin RJ, uFanaroff AA, uWalsh MC, ii-eds. UFanaroff kunye noMartin's Neonatal-Perinatal Medicine. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2020: isahl. 89.

Isyne DM. I-Physiology kunye nokuphazamiseka kokufikisa. Ku: UMelmed S, uAuchus RJ, uGoldfine AB, uKoenig RJ, uRosen CJ, ii-eds. Incwadi ebhaliweyo kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahluko 26.