I-Turner syndrome

I-Turner syndrome yisimo sezakhi zofuzo esingavamile lapho owesifazane engenawo ama-chromosomes ama-X ajwayelekile.

Inani elijwayelekile lama-chromosomes womuntu angama-46. Ama-chromosomes aqukethe zonke izakhi zakho zofuzo ne-DNA, okuyizakhi zomzimba. Amabili ala ma-chromosomes, ama-chromosomes ezocansi, anquma ukuthi uba ngumfana noma intombazane.

• Abesifazane imvamisa banama-chromosomes amabili obulili afanayo, abhalwe njengo-XX.
• Abesilisa bane-X ne-Y chromosome (ebhalwe njenge-XY).

Ku-Turner syndrome, amaseli alahlekile yonke noma ingxenye ye-X chromosome. Isimo senzeka kuphela kwabesifazane. Ngokuvamile, owesifazane one-Turner syndrome une-chromosome engu-1 X kuphela. Abanye bangaba nama-chromosomes ama-2 X, kepha okukodwa akuphelele. Kwesinye isikhathi, owesifazane unamaseli athile anama-chromosomes ama-2 X, kepha amanye amaseli anangu-1 kuphela.

Ukutholakala okungenzeka kwekhanda nentamo kufaka phakathi:

• Izindlebe ziphansi.
• Intamo ibonakala ibanzi noma ifana newebhu.
• Uphahla lomlomo luncane (ulwanga oluphakeme).
• Izinwele ngemuva kwekhanda ziphansi.
• Umhlathi ongezansi uphansi futhi ubonakala sengathi uphela (buyela emuva).
• Ukujikisa izinkophe namehlo omile.

Okunye okutholakele kungafaka:

• Iminwe nezinzwane kufushane.
• Izandla nezinyawo zivuvukele ezinganeni.
• Izipikili zincane futhi ziya phezulu.
• Isifuba sibanzi futhi siyisicaba. Izingono zibonakala zihlukaniswe kabanzi.
• Ukuphakama ngesikhathi sokuzalwa kuvame ukuba kuncane kunesilinganiso.

Ingane ene-Turner syndrome imfushane kakhulu kunezingane ezineminyaka efanayo nobulili. Lokhu kubizwa ngesiqu esifushane. Le nkinga kungenzeka ingabonwa emantombazaneni ngaphambi kweminyaka yobudala eyi-11.

Ukuthomba kungenzeka kungabikho noma kungapheli. Uma ukuthomba kwenzeka, kuvame ukuqala eminyakeni ejwayelekile. Ngemuva kweminyaka yobudala bokuthomba, ngaphandle kwalapho kulashwa ngamahomoni abesifazane, lokhu okutholakele kungaba khona:

• Izinwele ze-pubic zihlala zikhona futhi zivamile.
• Ukukhula kwamabele kungenzeka kungenzeki.
• Izikhathi zokuya esikhathini azikho noma zilula kakhulu.
• Ukoma kwesitho sangasese sowesifazane kanye nobuhlungu bokuya ocansini kuvamile.
• Ukungabi nenzalo.

Kwesinye isikhathi, ukuxilongwa kwe-Turner syndrome kungenzeka kungenziwa kuze kube umuntu omdala. Kungatholwa ngoba owesifazane unezikhathi ezilula kakhulu noma akekho esikhathini futhi unezinkinga zokukhulelwa.

I-Turner syndrome ingatholakala kunoma yisiphi isigaba sokuphila.

Kungatholakala ngaphambi kokuzalwa uma:

• Ukuhlaziywa kwe-chromosome kwenziwa ngesikhathi sokuhlolwa kokubeletha.
• I-cystic hygroma ukukhula okuvame ukwenzeka endaweni yekhanda nentamo. Lokhu kutholakala kungabonakala ku-ultrasound ngesikhathi sokukhulelwa futhi kuholele ekuhloleni okuqhubekayo.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa ngokomzimba futhi abheke izimpawu zokuthuthuka okungajwayelekile. Izinsana ezine-Turner syndrome zivame ukuvuvukala izandla nezinyawo.

Ukuhlolwa okulandelayo kungenziwa:

• Amazinga ama-hormone egazi (i-luteinizing hormone, i-estrogen, ne-follicle-stimulating hormone)
• I-Echocardiogram
• I-Karyotyping
• I-MRI yesifuba
• I-Ultrasound yezitho zokuzala nezinso
• Ukuhlolwa kwepelvic

Olunye uvivinyo olungenziwa ngezikhathi ezithile lubandakanya:

• Ukuhlolwa kwengcindezi yegazi
• Ukuhlolwa kwendlala yegilo
• Ukuhlolwa kwegazi kwe-lipids ne-glucose
• Ukuhlolwa kokuzwa
• Ukuhlolwa kwamehlo
• Ukuhlolwa kwesisindo samathambo

I-hormone yokukhula ingasiza ingane ene-Turner syndrome ukuthi ikhule ibe yinde.

I-Estrogen namanye ama-hormone avame ukuqala lapho intombazane ineminyaka engu-12 noma engu-13 ubudala.

• Lokhu kusiza kudala ukukhula kwamabele, izinwele zasesidlangalaleni, ezinye izici zobulili, nokukhula kokuphakama.
• Ukwelashwa kwe-Estrogen kuyaqhubeka ngempilo kuze kube seminyakeni yokunqamuka kokuya esikhathini.

Abesifazane abane-Turner syndrome abafisa ukukhulelwa bangacabanga ukusebenzisa iqanda lomnikeli.

Abesifazane abane-Turner syndrome bangadinga ukunakekelwa noma ukuqashwa kulezi zinkinga zempilo ezilandelayo:

• Ukwakhiwa kwe-Keloid
• Ukulahlekelwa ukuzwa
• Umfutho wegazi ophezulu
• Isifo sikashukela
• Ukuncipha kwamathambo (i-osteoporosis)
• Ukunwetshwa kwe-aorta nokuncipha kwe-aortic valve
• Isifo senkwethu
• Ukukhuluphala ngokweqile

Ezinye izindaba zingafaka:

• Ukuphathwa kwesisindo
• Ukuzivocavoca umzimba
• Ukushintshela ebudaleni
• Ukucindezeleka nokudangala ngenxa yezinguquko

Labo abane-Turner syndrome bangaba nempilo ejwayelekile lapho bebhekwa ngokucophelela ngumhlinzeki wabo.

Ezinye izinkinga zempilo zingafaka:

• Indlala yegilo
• Izinkinga zezinso
• Ukutheleleka kwendlebe okuphakathi
• I-Scoliosis

Ayikho indlela eyaziwayo yokuvimbela i-Turner syndrome.

Isifo seBonnevie-Ullrich; I-Gonadal dysgenesis; I-Monosomy X; XO

• I-Karyotyping

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USorbara JC, uWherrett DK. Ukuphazamiseka kokukhula kocansi. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 89.

I-Styne DM. I-Physiology nokuphazamiseka kokuthomba. Ku: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 14. IPhiladelphia, PA: Elsevier; 2020: isahluko 26.