Matenda a Turner

Matenda a Turner ndimikhalidwe yosowa kwambiri yomwe mkazi samakhala ndi ma chromosomes awiri a X.

Ma chromosomes onse a anthu ndi 46. Ma chromosome ali ndi majini anu onse ndi DNA, zomangira thupi. Awiri mwa ma chromosomes awa, ma chromosomes ogonana, amadziwika ngati mudzakhale mnyamata kapena mtsikana.

• Amayi amakhala ndi ma chromosomes awiri ofanana, olembedwa ngati XX.
• Amuna ali ndi X ndi Y chromosome (yolembedwa monga XY).

Mu Turner syndrome, maselo akusowa zonse kapena gawo la X chromosome. Vutoli limachitika mwa akazi okha. Nthawi zambiri, mkazi yemwe ali ndi matenda a Turner amakhala ndi 1 X chromosome yokha. Ena akhoza kukhala ndi ma chromosomes 2 X, koma amodzi mwa iwo ndi osakwanira. Nthawi zina, mkazi amakhala ndi maselo okhala ndi ma X X a chromosomes, koma ma cell ena amakhala ndi 1.

Zomwe zingapezeke pamutu ndi m'khosi ndi izi:

• Makutu ndi otsika.
• Khosi limawoneka lotakata kapena lofananira ndi intaneti.
• Denga la pakamwa ndilopapatiza (m'kamwa).
• Tsitsi kumapeto kwa mutu ndilotsika.
• Nsagwada zakumunsi ndizotsika ndipo zimawoneka ngati zikutha (kubwerera).
• Kutulutsa zikope ndi maso owuma.

Zotsatira zina zitha kuphatikiza:

• Zala ndi zala zazifupi.
• Manja ndi mapazi zitupa makanda.
• Misomali ndi yopapatiza ndipo imakweza m'mwamba.
• Chifuwa ndi chachikulu komanso chophwatalala. Mimbulu imawonekera kwambiri.
• Kutalika pakubadwa nthawi zambiri kumakhala kocheperako poyerekeza.

Mwana yemwe ali ndi matenda a Turner ndi wamfupi kwambiri kuposa ana omwe ali azaka zomwezo komanso kugonana. Uku kumatchedwa kutalika kwakanthawi. Vutoli silingazindikiridwe mwa atsikana asanakwanitse zaka 11.

Kutha msinkhu kumatha kupezeka kapena kusakwanira. Kutha msinkhu kumachitika, kumayamba nthawi zambiri. Mutatha msinkhu, pokhapokha mutapatsidwa mahomoni achikazi, izi zitha kupezeka:

• Tsitsi la pubic nthawi zambiri limakhala lachilendo.
• Kukula kwa m'mawere sikungachitike.
• Msambo mulibe kapena wowala kwambiri.
• Kuuma kwa ukazi ndi ululu wogonana ndizofala.
• Kusabereka.

Nthawi zina, matenda a Turner sangapangidwe mpaka munthu wamkulu. Zitha kupezeka chifukwa mkazi amakhala ndi nthawi yoleza msambo kapena samasamba komanso amakhala ndi vuto lokhala ndi pakati.

Matenda a Turner amatha kupezeka nthawi iliyonse ya moyo.

Itha kupezeka asanabadwe ngati:

• Kusanthula kwa chromosome kumachitika poyesedwa asanabadwe.
• Cystic hygroma ndikukula komwe kumakonda kupezeka pamutu ndi m'khosi. Kupeza uku kumatha kuwonedwa pa ultrasound panthawi yomwe ali ndi pakati ndipo kumabweretsa mayeso ena.

Wothandizira zaumoyo adzayesa thupi ndikuyang'ana zizindikiro zakukula kwachilendo. Makanda omwe ali ndi matenda a Turner nthawi zambiri amatupa manja ndi mapazi.

Mayesero otsatirawa akhoza kuchitidwa:

• Mahomoni amwazi wamagazi (mahomoni a luteinizing, estrogen, ndi ma follicle-othandizira mahomoni)
• Zojambulajambula
• Zojambula
• MRI ya chifuwa
• Ultrasound la ziwalo zoberekera ndi impso
• Kuyesa kwapelvic

Mayesero ena omwe angachitike nthawi ndi nthawi amaphatikizapo:

• Kuwunika kwa magazi
• Kufufuza chithokomiro
• Kuyezetsa magazi kwa lipids ndi shuga
• Kuwunika kwakumva
• Kuyezetsa maso
• Kuyezetsa magazi

Hormone yokula imatha kuthandiza mwana yemwe ali ndi matenda a Turner kukula.

Estrogen ndi mahomoni ena nthawi zambiri amayamba msungwana ali ndi zaka 12 kapena 13.

• Izi zimathandizira kukula kwa mawere, tsitsi la m'mimba, zina zogonana, ndikukula msinkhu.
• Thandizo la Estrogen limapitilizidwa kudzera m'moyo mpaka zaka zakutha.

Amayi omwe ali ndi matenda a Turner omwe akufuna kukhala ndi pakati angaganize zogwiritsa ntchito dzira la omwe amapereka.

Amayi omwe ali ndi matenda a Turner angafunike chisamaliro kapena kuwunika pamavuto awa:

• Mapangidwe a keloid
• Kutaya kwakumva
• Kuthamanga kwa magazi
• Matenda a shuga
• Kuchepetsa mafupa (kufooka kwa mafupa)
• Kukulitsa kwa aorta ndikuchepetsa kwa valavu ya aortic
• Kupunduka
• Kunenepa kwambiri

Zina zingaphatikizepo:

• Kusamalira kunenepa
• Chitani masewera olimbitsa thupi
• Kusintha kukhala munthu wamkulu
• Kupsinjika ndi kukhumudwa pakusintha

Anthu omwe ali ndi matenda a Turner amatha kukhala ndi moyo wabwinobwino ngati ayang'aniridwa mosamala ndi omwe amawapatsa.

Mavuto ena azaumoyo atha kukhala:

• Chithokomiro
• Mavuto a impso
• Matenda apakatikati
• Scoliosis

Palibe njira yodziwika yopewera matenda a Turner.

Matenda a Bonnevie-Ullrich; Matenda a Gonadal; Monosomy X; XO

• Zojambula

Bacino CA, Lee B. Cytogenetics Mu: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 98.

Sorbara JC, Wherrett DK. Zovuta zakukula kwakugonana. Mu: Martin RJ, Fanaroff AA, Walsh MC, olemba., Eds. Fanaroff ndi Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020: chap 89.

Styne DM. Physiology ndi zovuta zakutha msinkhu. Mu: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, olemba. Buku la Williams la Endocrinology. Wolemba 14th. Philadelphia, PA: Elsevier; 2020: mutu 26.