Turner syndrome

Turner syndrome yog yam mob uas tsis tshua muaj tshwm sim hauv ib tug poj niam uas tsis muaj cov khub xoo xoos ib txwm muaj.

Tus lej feem ntawm tib neeg cov chromosomes yog 46. Chromosomes muaj tag nrho koj cov caj ces thiab DNA, cov tsev sib xyaw ntawm lub cev. Ob ntawm cov chromosomes, kev sib daj sib deev, txiav txim siab yog tias koj dhau los ua ib tus tub lossis ib tus ntxhais.

• Cov pojniam feem ntau muaj 2 ntawm tib cov txiv neej cov poj niam, sau ua XX.
• Cov txiv neej muaj X thiab Y Y chromosome (sau ua XY).

Hauv Turner syndrome, hlwb ploj tag nrho lossis ib feem ntawm X chromosome. Tus mob tsuas yog tshwm sim hauv cov maum xwb. Feem ntau, tus poj niam nrog Turner syndrome tsuas muaj 1 x chromosome. Lwm tus yuav muaj 2 x chromosomes, tab sis ib qho ntawm lawv tsis tiav. Qee zaum, tus poj niam muaj qee cov qog hlwb nrog 2 X chromosomes, tab sis lwm cov cell tsuas muaj 1.

Qhov tsim nyog tshawb pom ntawm lub taub hau thiab caj dab muaj xws li:

• Lub pob ntseg qis qis-teem.
• Caj dab nthuav dav lossis lub web-zoo li.
• Lub ru tsev ntawm lub qhov ncauj yog nqaim (siab palate).
• Hairline nyob tom qab ntawm lub taub hau yog qis dua.
• Lub puab tsaig hauv qab qis dua thiab zoo li fade deb (recede).
• Drooping tawv muag daj thiab qhov muag qhuav.

Lwm qhov kev tshawb pom yuav suav nrog:

• Ntiv tes thiab ntiv taw luv.
• Tes thiab taw tau o tuaj ntawm cov menyuam mos.
• Cov ntsia hlau yog nqaim thiab tig rov qab.
• Lub hauv siab dav thiab tiaj. Cov txiv mis tawm tuaj ntau dua qhov dav.
• Qhov siab thaum yug yog feem ntau me dua ntawm nruab nrab.

Ib tug menyuam yaus nrog Turner syndrome luv dua tus menyuam yaus uas muaj hnub nyoog thiab poj niam txiv neej sib luag. Qhov no yog hu ua luv stature. Qhov teeb meem no tej zaum yuav tsis pom nyob rau hauv cov menyuam ntxhais ua ntej hnub nyoog 11.

Puberty yuav tsis tuaj los yog tsis tiav. Yog tias tiav nkauj tiav nraug feem ntau pib tshwm sim thaum muaj hnub nyoog. Tom qab lub hnub nyoog tiav nkauj tiav nraug, tshwj tsis yog kho nrog cov tshuaj hormones poj niam, kev tshawb pom no tuaj yeem pom:

• Pub plaub hau yog feem ntau tuaj thiab ib txwm.
• Kev loj hlob ntawm lub mis yuav tsis tshwm sim.
• Tus poj niam coj khaub ncaws tsis tuaj kawm ntawv lossis teeb heev.
• Vaginal dryness thiab mob nrog com yog ib qho.
• Ntxiv lawm tshob.

Qee zaum, kev kuaj mob Turner tus kabmob yuav tsis ua kom txog thaum laus. Nws yuav tshawb pom vim tias tus poj niam muaj lub teeb heev lossis tsis muaj hnub coj khaub ncaws thiab teeb meem muaj menyuam.

Turner syndrome tuaj yeem kuaj tau txhua ntu ntawm lub neej.

Nws yuav kuaj tau ua ntej yug yog tias:

• Kev tsom xoos ib ce yog ua thaum lub sijhawm kuaj cev xeeb tub.
• Lub cystic hygroma yog kev loj hlob uas feem ntau tshwm sim hauv lub taub hau thiab caj dab. Qhov kev tshawb pom no yuav pom ntawm ultrasound thaum cev xeeb tub thiab coj mus kuaj ntxiv.

Tus kws kho mob yuav kuaj xyuas lub cev thiab saib cov cim ntawm kev loj hlob atypical. Cov menyuam mos uas muaj Turner syndrome feem ntau muaj o thiab txhais taw o.

Cov kev xeem hauv qab no tuaj yeem ua:

• Qib ntshav theem (luteinizing hormone, estrogen, thiab follicle-stimulating hormone)
• Echocardiogram
• Hmoob Karyotyping
• MRI ntawm lub hauv siab
• Ultrasound ntawm kev ua me nyuam thiab cov raum
• Pelvic exam

Lwm txoj kev kuaj uas yuav ua tau ib ntu muaj xws li:

• Ntshav siab kuaj
• Cov tshev muaj cov thyroid
• Kev kuaj ntshav rau lipids thiab piam thaj
• Tshuaj ntsuam pob ntseg hnov
• Qhov muag ntsuam xyuas
• Kev ntsuam xyuas cov pob txha ceev

Kev loj hlob hormone yuav pab tau tus menyuam yaus nrog Turner syndrome loj dua.

Cov tshuaj estrogen thiab lwm cov tshuaj hormones feem ntau pib thaum tus ntxhais muaj 12 lossis 13 xyoos.

• Cov kev pab no ua rau kev loj hlob ntawm lub mis, cov plaub hau pub dawb, lwm yam kev sib deev, thiab kev loj hlob hauv qhov siab.
• Kev kho tshuaj estrogen txuas ntxiv mus tas lub neej txog thaum muaj hnub nyoog lub cev ntas.

Cov poj niam nrog Turner syndrome uas xav xav cev xeeb tub tuaj yeem txiav txim siab siv lub qe pub nyiaj.

Cov poj niam nrog Turner syndrome yuav xav tau kev saib xyuas lossis saib xyuas cov teeb meem kev noj qab haus huv nram qab no:

• Keloid tsim
• Hnov tsis hnov ​​lus
• Ntshav siab
• Mob ntshav qab zib
• Thinning ntawm cov pob txha (osteoporosis)
• Kev nthuav dav ntawm aorta thiab nqaim ntawm aortic valve
• Cataracts
• Kev pham

Lwm yam teeb meem yuav suav nrog:

• Kev tswj xyuas lub cev hnyav
• Kev tawm dag zog
• Kev hloov mus rau cov neeg laus
• Kev ntxhov siab thiab kev nyuaj siab dhau qhov hloov pauv

Cov neeg uas muaj Turner syndrome tuaj yeem muaj lub neej zoo thaum saib xyuas lawv tus kws kho mob.

Lwm yam teeb meem kev noj qab haus huv kuj yuav suav nrog:

• Mob caj pas
• Teeb meem lub raum
• Nruab nrab pob ntseg mob
• Tus Mob Scoliosis

Tsis muaj txoj kev paub tiv thaiv tus mob Turner syndrome.

Mob Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X; XO

• Hmoob Karyotyping

Bacino CA, Lee B. Cytogenetics Hauv: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 98.

Sorbara JC, Wherrett DK. Kev tsis sib haum xeeb ntawm kev sib deev. Hauv: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff thiab Martin's Neonatal-Perinatal TshuajCov. 11th ed. Philadelphia, PA: Elsevier; 2020: tshooj 89.

Styne DM. Lub tswv yim ua haujlwm thiab cuam tshuam ntawm kev ua tiav. Hauv: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Phau Ntawv ntawm EndocrinologyCov. Xab 14th. Philadelphia, PA: Elsevier; 2020: chap 26.