Turner lefu

Turner syndrome ke boemo bo sa tloaelehang ba liphatsa tsa lefutso moo mosali a se nang li-chromosome tsa X tse tloaelehileng.

Palo e tloaelehileng ea li-chromosome tsa motho ke tse 46. Li-chromosome li na le liphatsa tsohle tsa lefutso le DNA, e leng litene tsa 'mele. Tse peli tsa li-chromosome tsena, li-chromosome tsa thobalano, li etsa qeto ea hore na u ba moshemane kapa ngoanana.

• Basali ka tloaelo ba na le li-chromosome tse peli tsa bong bo tšoanang, tse ngotsoeng e le XX.
• Banna ba na le X le Y chromosome (e ngotsoeng e le XY).

Ho Turner syndrome, lisele li haelloa ke chromosome ea X kaofela kapa karolo ea eona. Boemo bona bo etsahala feela ho basali. Hangata, mosali ea nang le lefu la Turner o na le chromosome e le 'ngoe feela ea X. Ba bang ba ka ba le li-chromosome tse 2 X, empa e 'ngoe ea tsona ha ea fella. Ka linako tse ling, mosali o na le lisele tse nang le li-chromosome tse 2 X, empa lisele tse ling li na le 1 feela.

Lintho tse ka fumanoang hloohong le molaleng li kenyelletsa:

• Litsebe li tlaase.
• Nko e bonahala e pharaletse kapa e tšoana le webo.
• Marulelo a molomo a masesaane (mahalapa a phahameng).
• Moriri oa moriri ka morao hloohong o tlase.
• Mohlahare o tlase o tlase ebile o bonahala o nyamela.
• Ho koala mahlo le mahlo a omileng.

Liphetho tse ling li ka kenyelletsa:

• Menoana le menoana ea maoto e mekhutšoanyane.
• Matsoho le maoto li ruruhile maseeng.
• Manala a masesaane mme a phahama ho ya hodimo.
• Sefuba se sephara ebile se bataletse. Malepa a bonahala a arohane haholo.
• Bolelele ha bo hlaha hangata bo nyane ho feta karolelano.

Ngoana ea nang le lefu la Turner o khuts'oane haholo ho feta bana ba lilemo tse tšoanang le bong. Sena se bitswa seemo se sekgutshwane. Bothata bona bo kanna ba se hlokomeloe ho banana ba pele ho lilemo tse 11.

Ho kena bohlankaneng kapa boroetsaneng ho ka ba sieo kapa ha se phethe. Haeba ho kena bohlankaneng kapa boroetsaneng ho etsahala hangata, ho qala lilemong tse tloaelehileng. Kamora lilemo tsa ho kena bohlankaneng kapa boroetsaneng, ntle le haeba bo alafshoa ka lihomone tsa basali, liphetho tsena li ka ba teng:

• Moriri oa pubic hangata o teng ebile o tloaelehile.
• Kholiso ea matsoele e kanna ea se ke ea etsahala.
• Linako tsa ho ilela khoeli ha li eo kapa li bobebe haholo.
• Ho omella ha bosali le bohloko ba thobalano li atile.
• Ho hloka thari.

Ka linako tse ling, tlhahlobo ea Turner syndrome e kanna ea se ke ea etsoa ho fihlela motho e moholo. E ka fumanoa hobane mosali o na le linako tse bobebe haholo kapa ha a na nako ea ho ilela khoeli le mathata a ho ima.

Turner syndrome e ka fumanoa ka nako efe kapa efe ea bophelo.

E kanna ea fumanoa pele ho tsoalo haeba:

• Tlhahlobo ea chromosome e etsoa nakong ea tlhahlobo ea bakhachane.
• Cystic hygroma ke kholo e atisang ho hlaha sebakeng sa hlooho le molala. Tlhahiso ena e ka bonoa ho ultrasound nakong ea bokhachane mme e lebisa ho liteko tse ling.

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele' me a batle matšoao a kholo e sa tloaelehang. Masea a nang le lefu la Turner hangata a ruruhile matsoho le maoto.

Liteko tse latelang li ka etsoa:

• Litekanyo tsa lihormone tsa mali (luteinizing hormone, estrogen, le follicle-stimulating hormone)
• Echocardiogram
• Ho ngola litlhaku
• MRI ea sefuba
• Ultrasound ea litho tsa ho ikatisa le liphio
• Tlhahlobo ea sefubelu

Liteko tse ling tse ka etsoang nako le nako li kenyelletsa:

• Ho hlahloba khatello ea mali
• Litlhahlobo tsa qoqotho
• Liteko tsa mali bakeng sa lipids le tsoekere
• Ho lekola kutlo
• Ho hlahloba mahlo
• Ho lekoa botenya ba masapo

Hormone ea kholo e ka thusa ngoana ea nang le Turner syndrome ho hola.

Estrogen le lihormone tse ling hangata li qala ha ngoanana a le lilemo li 12 kapa 13.

• Ts'ebeliso ena e baka kholo ea matsoele, moriri oa pepeneng, litšobotsi tse ling tsa thobalano le kholo ea bolelele.
• Phekolo ea estrogen e ntse e tsoela pele ka bophelo ho fihlela lilemo tsa ho khaotsa ho ilela khoeli.

Basali ba nang le lefu la Turner ba lakatsang ho ima ba ka nahana ho sebelisa lehe la mofani.

Basali ba nang le lefu la Turner ba ka hloka tlhokomelo kapa tlhokomelo bakeng sa mathata a latelang a bophelo bo botle:

• Sebopeho sa Keloid
• Ho lahleheloa ke kutlo
• Khatello ea mali e phahameng
• Lefu la tsoekere
• Ho otlolla masapo (lefu la ho fokola ha masapo)
• Ho atolosoa ha aorta le ho fokotseha ha valve ea aortic
• Likotsi
• Botenya

Litaba tse ling li ka kenyelletsa:

• Ho laola boima ba 'mele
• Ho ikoetlisa
• Phetoho ho ba motho e moholo
• Ho imeloa kelellong le khatello ea maikutlo ka lebaka la liphetoho

Ba nang le lefu la Turner ba ka phela bophelo bo tloaelehileng ha ba behiloe leihlo ke mofani oa bona.

Mathata a mang a bophelo bo botle a ka kenyelletsa:

• Thyroiditis
• Mathata a liphio
• Tšoaetso ea tsebe e bohareng
• Scoliosis

Ha ho na mokhoa o tsebahalang oa ho thibela lefu la Turner.

Lefu la Bonnevie-Ullrich; Gonadal dysgenesis; Monosomy X; XO

• Ho ngola litlhaku

Bacino CA, Lee B. Cytogenetics Ho: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 98.

Sorbara JC, Wherrett DK. Mathata a kholo ea kholo ea thobalano. Ka: Martin RJ, Fanaroff AA, Walsh MC, bangoli. Fanaroff le Phekolo ea Martin ea Neonatal-Perinatal. 11th ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 89.

DM ea setaele. Physiology le mathata a ho kena bohlankaneng kapa boroetsaneng. Ka: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, bahlophisi. Buka ea Williams ea Endocrinology. La bo14 la ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 26.