Shereshevsky-Turner syndrome (tseem Ulrich-Turner syndrome) yog kab mob caj ces tshwm sim los ntawm qhov tsis tiav lossis ib nrab ntawm ib qho X chromosome hauv cov poj niam. Zoo li lwm yam chromosomal abnormalities, nws yog tus cwj pwm los ntawm qhov tshwm sim loj rau cov neeg mob. Lub karyotype hauv Turner Syndrome yog tsim los ua 45, X0.
noob caj noob ces
Nyob rau hauv luv luv, Turner syndrome tshwm sim nyob rau hauv cov ntaub ntawv ntawm tag nrho los yog ib nrab monosomy ntawm X chromosome nyob rau hauv ib tug poj niam. Hauv kwv yees li 20% ntawm cov neeg mob, tus kab mob no cuam tshuam nrog X-chromosome mosaicism - ib qho mob uas qee lub hlwb ntawm poj niam lub cev muaj ob lub cev X chromosomes, ib qho tsis ua haujlwm, thiab hauv lwm lub hlwb yog ib qho ntawm cov chromosomes kev sib deev. ho puas los yog tsis muaj kiag li. Qee zaum muaj kev hloov pauv ntawm ib feem ntawm X chromosome mus rau autosome (translocation).
Qee zaum, tus mob no cuam tshuam nrog cov tsos ntawm lub nplhaib chromosomes lossis isochromosomes. Lub nplhaib chromosomes tshwm sim thaum xaus ntawm chromosome so thiab lawv cov caj npab ntev thiab luv tuaj koomua ke los tsim ib lub nplhaib. Isochromosomes tshwm sim thaum lub caj npab ntev lossis luv luv ntawm chromosome hloov los ntawm ib daim qauv zoo tib yam ntawm lwm caj npab.
Muaj cov neeg mob uas qee lub hlwb tsuas muaj ib daim qauv ntawm X chromosome, thaum lwm lub hlwb muaj X chromosome thiab qee cov khoom siv Y chromosome. Tus nqi ntawm cov khoom ntawm Y chromosome tsis txaus ua rau lub cev los ua txiv neej, tab sis nws lub xub ntiag yog txuam nrog kev pheej hmoo ntawm kev tsim cov qog nqaij hlav hu ua gonadoblastoma.
Ntau tshaj 90% ntawm cev xeeb tub nyob rau hauv lub xub ntiag ntawm Shereshevsky-Turner syndrome nyob rau hauv lub fetus kawg ntawm nchuav menyuam los yog tseem yug me nyuam, txog 15% ntawm spontaneous rho menyuam yog txuam nrog no pathology. Txawm li cas los xij, nws tsim nyog sau cia tias qhov no tsuas yog monosomy hauv tib neeg lub cev, uas qee zaum sib haum nrog lub neej: monosomy ntawm ib qho autosome (tsis yog poj niam txiv neej chromosome) lossis Y chromosome inevitably ua rau fetal tuag thaum ntxov ntawm cev xeeb tub.. Kev kho mob kom zoo tuaj yeem txo cov tsos mob ntawm tus kab mob hauv cov menyuam yug los nrog Ulrich-Turner syndrome.
Cov tsos mob ntawm tus kab mob sib txawv ntawm tus neeg mob mus rau tus neeg mob. Cov neeg mob feem ntau yog tus cwj pwm los ntawm kev loj hlob qis vim yog pathologies ntawm kev loj hlob ntawm pob txha, lub caj dab luv luv, kev txhim kho tsis zoo ntawm cov yam ntxwv ntawm kev sib deev, pathologies ntawm lub cev ntawm lub zeem muag thiab cov hlab plawv, thiab kev xeeb tub. Txawm hais tias cov npe ntawm cov tsos mob no, Turner's syndrome yog nyob deb ntawm cov kab mob genetic txaus ntshai tshaj plaws - kev txawj ntse hauv cov neeg mob feem ntau khaws cia, thiab nrog txoj cai. Cov kev kho mob tau sau tseg, cov poj niam uas muaj qhov tsis zoo ntawm caj ces tuaj yeem ua rau lub neej ib txwm muaj.
Ulrich-Turner syndrome tuaj yeem kuaj pom ua ntej yug los siv cov kev kuaj mob niaj hnub, uas yuav tau tham hauv qab no. Tsis zoo li lwm yam kab mob caj ces, tus mob no tsis muaj nyob hauv tsev neeg thiab tshwm sim tshwm sim (sporadically).
Yog vim li cas
Qhov ua rau Shereshevsky-Turner syndrome tseem tsis tau nkag siab zoo. Nws tsis paub meej tias yam twg cuam tshuam rau qhov yuav muaj tus menyuam uas muaj tus kabmob no. Nws tau raug pom zoo tias qhov kev pheej hmoo ntawm kev tsim tus mob no cuam tshuam los ntawm kev cuam tshuam ntawm leej niam kom nce koob tshuaj ionizing hluav taws xob (ntau dua 1 mSv ib xyoos). Cov kev tshawb fawb loj ntsig txog kev txheeb xyuas qhov ua rau Turner syndrome thiab lwm yam chromosomal txawv txav tau ua nyob rau hauv 70s ntawm lub xyoo pua xeem. Cov kev tshawb fawb tau ua nyob rau hauv lub xeev Indian ntawm Kerala, qhov twg cov hluav taws xob keeb kwm yav dhau yog siab dua li cov qauv vim muaj cov thorium thiab nws cov khoom lwj hauv av, thiab hauv Suav xeev Guangdong, qhov twg cov koob tshuaj sib npaug txhua xyoo. 6,4m wb. Cov txiaj ntsig tau pom tias kev siv tshuaj ntau ntawm ionizing hluav taws xob ua rau muaj kev pheej hmoo ntawm kev muaj menyuam yaus nrog Down syndrome thiab quaj miv syndrome. Txawm li cas los xij, tsis muaj qhov tshwm sim ntawm Turner syndrome. Niaj hnub no, nyob rau hauv ntau qhov chaw koj tuaj yeem nrhiav cov ntaub ntawv hais tias ionizing hluav taws xob cuam tshuam qhov kev pheej hmoo ntawm kev tsim kab mob, tab sis tsis muaj cov txheeb cais uas yuav lees paub qhov no.
Tsis muaj kev sib raug zoo ntawm leej niam lub hnub nyoog thiab qhov muaj feem yuav muaj menyuam nrogQhov no pathology.
Symptoms
Rau cov neeg mob uas muaj tus kab mob no yog tus cwj pwm los ntawm: luv luv stature, pathology ntawm txoj kev loj hlob ntawm cov pob txha thiab cov yam ntxwv ntawm kev sib deev theem nrab. Tus kab mob kuj tuaj yeem cuam tshuam rau lwm lub cev. Lub xub ntiag ntawm Shereshevsky-Turner syndrome tsis tau txhais hais tias ib tug neeg mob yuav muaj tag nrho cov tsos mob ntawm tus kab mob. Lub syndrome yog tus cwj pwm los ntawm ntau yam tsos mob thiab cov yam ntxwv sab nraud. Lub xub ntiag ntawm qee yam tsos mob, lawv qhov hnyav thiab lub sijhawm tshwm sim yog tus kheej nruj.
Feem ntau cov menyuam mos uas muaj Turner syndrome tau yug me ntsis ntxov thiab qis dua. Cov menyuam mos liab feem ntau muaj o ntawm caj npab thiab txhais ceg. Hauv ntau tus neeg mob thaum hluas, rog dhau lossis rog tshwm sim, kev loj hlob qeeb, kev loj hlob ntawm cov qog mammary thiab uterus, amenorrhea, hauv siab deformity tshwm. Qee lub sij hawm muaj cov kab mob xws li lub raum horseshoe, hypoplasia ntawm sab laug lub plawv, nqaim ntawm aorta, thaum neeg laus - arterial hypertension.
Kev txawj ntse hauv cov neeg mob feem ntau yog qhov qub, tab sis tej zaum yuav muaj teeb meem cuam tshuam nrog kev xav thiab nco txog cov khoom tshiab. Qee cov menyuam yaus uas muaj Turner Syndrome tsim ADHD (Attention Deficit Hyperactivity Disorder) thaum menyuam yaus thiab hluas.
Cov neeg mob muaj kev pheej hmoo siab ntawm hypothyroidism vim yog autoimmune thyroiditis. Qee tus poj niam uas muaj tus mob Turner muaj gluten intolerance (tus kab mob celiac).
Cov tsos mob tshwm sim ntawm tus kab mob kuj muaj xws li: siab palate, plaub hau qis, kev txhim kho ntawm lub puab tsaig qis. Muaj pathologies ntawm lub cev ntawm lub zeem muag thiab lub urinary system.
Kev kuaj mob ua ntej yug menyuam
Nws tsis yog qhov zais cia tias cov kev kuaj mob niaj hnub no tuaj yeem kuaj pom cov caj ces txawv txav ntawm tus menyuam hauv plab ntev ua ntej yug. Ib txoj hauv kev zoo li no, kev kuaj tsis ua ntej yug menyuam (kev tshuaj ntsuam xyuas rau fetal extracellular DNA pom hauv leej niam cov ntshav), tuaj yeem ua tau txij thaum kawg ntawm thawj peb lub hlis twg ntawm cev xeeb tub.
Qhov zoo ntawm cov txheej txheem no yog tias nws muaj kev nyab xeeb tag nrho rau leej niam thiab tus menyuam hauv plab. Ntxiv nrog rau Turner Syndrome, kev kuaj DNA extracellular tuaj yeem kuaj pom cov mob aneuploidies xws li Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Down syndrome (trisomy 21), trisomy X., Klinefelter syndrome, Martin-Bell syndrome.
kuaj ultrasound tuaj yeem kuaj pom qhov txawv txav hauv kev loj hlob ntawm lub raum thiab lub plawv - lawv yog cov tsos mob tshwm sim ntawm tus kab mob.
Syndrome tuaj yeem kuaj pom los ntawm amniocentesis lossis chorionic biopsy. Ob leeg ntawm cov txheej txheem no yog invasive thiab muaj contraindications. Lawv qhov zoo muaj xws li qhov tseeb ntawm qhov tshwm sim.
Kev kuaj mob thaum yau thiab hluas
Lub xub ntiag ntawm Shereshevsky-Turner syndrome tsis yog ib txwm pom ua ntej yug menyuam. Ntau tus poj niam uas cev xeeb tub ib txwm tsis xav txog qhov yuav tsum tau mus rau kev kuaj mob ua ntej yug menyuam ntawm kev xeeb tub ntawm tus menyuam hauv plab, qee qhov tsis kam lees nws.vim contraindications los yog ntshai ntawm kev phiv. Tom qab ntawd yug me nyuam nrog ib qho kev txawv txav ntawm chromosomal ua rau lawv xav tsis thoob.
Qee zaum, Turner syndrome hauv cov menyuam tuaj yeem kuaj tau tam sim tom qab yug me nyuam, thaum cov ntaub ntawv me me ntawm tus kab mob feem ntau mus tsis pom los ntawm cov kws tshwj xeeb thiab tus menyuam cov niam txiv mus txog thaum pib hluas. Nws tshwm sim tias thawj peb lossis plaub xyoos ntawm lub neej tus menyuam loj hlob ib txwm. Tom qab ntawd, kev loj hlob qeeb zuj zus, thiab kev lag luam tom qab cov phooj ywg hauv kev loj hlob ntawm lub cev yuav pom tau. Hauv tsev kawm ntawv theem pib, kev kawm nyuaj tshwm sim vim tsis muaj peev xwm mloog tau. Cov menyuam yaus uas muaj Turner Syndrome muaj lub sijhawm nyuaj tshwj xeeb nrog cov kev tshawb fawb uas xav tau kom muaj kev mloog zoo thiab xav txog kev xav.
Thaum kawg ntawm kev puberty, cov ntxhais uas muaj qhov txawv txav ntawm caj ces luv dua lawv niam lawv txiv (qhov nruab nrab qhov siab ntawm cov poj niam uas muaj Ulrich-Turner syndrome yog 145 cm), skeletal anomalies thiab lwm yam tsos mob ntawm pathology yog pom. Txhawm rau kom paub tseeb tias tus menyuam muaj tus kab mob, koj yuav tsum hu rau tus kws kho mob tshwj xeeb uas yuav muab rau kev ua karyotyping, tus txheej txheem kuaj mob uas tso cai rau koj txheeb xyuas cov chromosomal txawv txav hauv genome. Cov txheej txheem no muaj kev nyab xeeb kiag li, tsis mob thiab tsis muaj contraindications. Thaum lub sij hawm karyotyping, tus kws tshawb fawb siv ob peb lub qe ntawm cov ntshav venous rau kev tsom xam thiab tshuaj xyuas lub voj voog mitotic ntawm leukocytes cais tawm ntawm qhov ntawd.
Kev kho mob
Tam sim no, tsis muaj cov txheej txheem lossis tshuaj uas tau tso cai rau kev kho mob Turner's syndrome. Tej zaum yav tom ntej caj cesTxoj kev kho yuav tso cai rau rov kho cov X chromosome uas ploj lawm thaum lub sij hawm embryogenesis, tab sis txog tam sim no cov txheej txheem no tseem nyob dhau ntawm qhov ua tau. Kev kho mob ntawm Shereshevsky-Turner syndrome tseem muaj cov tsos mob. Txhawm rau kho lub cev luv luv, cov tshuaj hormonal uas muaj somatotropin tau raug sau tseg, uas tau noj ua ntej thiab thaum lub sijhawm puberty. Kev kho mob somatotropic sai sai pib, nws yuav ua tau zoo dua.
Kev hloov tshuaj estrogen tau siv rau ntau tshaj xya caum xyoo rau kev loj hlob ntawm cov yam ntxwv ntawm kev sib deev hauv cov neeg mob, nws raug sau tseg thaum muaj hnub nyoog 12-14 xyoo. Txhawm rau kom muaj qhov sib npaug ntawm cov tshuaj hormones hauv lub cev, cov poj niam feem ntau xav tau cov tshuaj estrogen thiab progesterone ua ntej poj niam cev xeeb tub.
Estrogen tseem yog tus yuam sij rau kev tswj cov pob txha kev ncaj ncees thiab kev ua haujlwm ntawm lub cev nqaij daim tawv. Cov poj niam uas muaj Shereshevsky-Turner syndrome tsis muaj kev tswj hwm tshuaj estrogen muaj kev pheej hmoo ntawm pob txha thiab kab mob plawv.
Cov neeg mob hypothyroid yog cov tshuaj thyroid hormones.
Yog cov neeg mob muaj ntshav qab zib, lawv yuav tsum tau saib xyuas cov qib insulin hauv cov ntshav tas li thiab ua raws li kev noj haus.
Yog hais tias ib tug poj niam uas muaj Ulrik-Turner syndrome muaj lub raum horseshoe los yog urinary system defects, ib tug nephrologist thiab urologist yuav tsum tau sab laj.
Huab cua
Kev Ntsuas, ib yam li txhua yam kab mob caj ces, nyob ntawm qhov hnyav ntawm cov tsos mob. Ntau tus poj niam uas tau txais kev kho tshuaj hormones ua lub neej tag nrho. Lawv nyob rau theem li qub.txawj ntse thiab kev txawj ntse.
Yuav luag txhua tus neeg mob Turner syndrome tsis muaj menyuam. Tshuaj paub cov xwm txheej thaum cov poj niam zoo li no tuaj yeem xeeb menyuam ntawm lawv tus kheej, tab sis qhov no yog qhov tsis tshua muaj. Cov neeg mob feem ntau daws qhov teeb meem no nrog kev pab los ntawm kev tsim insemination.
Nws yuav tsum nco ntsoov tias cov poj niam uas muaj tus mob Turner muaj kev pheej hmoo siab ntawm kev xeeb tub. Lawv xav tau kev saib xyuas tas li los ntawm gynecologist thiab tus kws kho mob.
Tau kawg, txoj hmoo nyuaj rau cov neeg uas tau kuaj pom tias muaj tus mob Turner's syndrome. Daim duab ntawm ib tug poj niam hluas raug mob los ntawm tus mob no yog qhia hauv qab no.
Nyob zoo
Ulrich-Turner syndrome tsis yog ib yam kab mob tsawg. Nws qhov zaus muaj li ntawm 1: 2000 txog 1: 5000 hauv cov ntxhais yug tshiab, thiab muab qhov tseeb tias feem ntau cev xeeb tub nrog tus mob no xaus rau kev nchuav menyuam lossis rho menyuam tawm, peb tuaj yeem hais tias qhov xwm txheej ntawm tus kabmob no ntau dua.
Txoj kev ntxub ntxaug lossis haiv neeg tsis tau txheeb xyuas uas yuav cuam tshuam qhov zaus ntawm kev yug menyuam ntawm Turner syndrome.
Discovery keeb kwm
Tus kab mob no tau piav qhia thawj zaug ntawm tus kheej los ntawm Lavxias tus kws kho mob endocrinologist Nikolai Shereshevsky hauv xyoo 1925 thiab American endocrinologist Henry Turner xyoo 1938. Lawv tau kawm txog cov tsos mob tseem ceeb ntawm cov kab mob pathology, tab sis tsis xav tias tus kab mob uas lawv nrhiav pom tau cuam tshuam nrog chromosomal abnormality. Tus kws tshawb fawb German Ulrich kuj tau pab txhawb txoj kev tshawb fawb ntawm tus kab mob. ATXyoo 1930, nws tau piav qhia txog qhov xwm txheej kho mob thaum tus neeg mob hnub nyoog 8 xyoo tsis muaj cov yam ntxwv ntawm kev sib deev, muaj kev loj hlob tsawg, micrognatia (kev txhim kho ntawm lub puab tsaig sab sauv). Hauv European cov ntaub ntawv, qhov chromosomal anomaly feem ntau hu ua Ulrich-Turner syndrome lossis tsuas yog Ulrich syndrome.
Thawj qhov kev tshaj tawm txog tus poj niam uas muaj karyotype ntawm Shereshevsky-Turner syndrome yog tus kws kho mob British Charles Ford. Nws yog nws tus uas txiav txim siab tias qhov ua rau ntawm tus mob yog monosomy ntawm X chromosome.
Kev xav paub
Muaj ob yam kab mob uas qee zaum hu ua Turner's syndromes. Cov kab mob no tau tshawb pom thiab piav qhia los ntawm cov npe ntawm American endocrinologist Henry Turner, yog li qhov tsis meej pem nrog cov npe. Cov no yog May-Turner thiab Personage-Turner syndromes. Ob leeg ntawm cov kab mob no tsis muaj dab tsi cuam tshuam nrog cov monosomy ntawm X chromosome tau piav qhia saum toj no, thiab tsis yog cov kab mob sib kis.
Thawj qhov kev piav qhia ntawm May-Turner syndrome tshwm sim xyoo 1957. Pathology yog tshwm sim los ntawm kev ua txhaum ntawm cov ntshav tawm ntawm cov ntshav venous los ntawm sab laug qis qis thiab cov plab hnyuv siab raum, vim tias cov neeg mob raug kev txom nyem los ntawm qhov mob tas li ntawm sab laug ceg thiab lub plab mog. Nyob rau theem tom ntej ntawm tus kab mob, cov hlab ntsha sib sib zog nqus tau pom ntawm venography. Cov tsos mob yog qhov nyuaj rau kev kuaj mob, tshwj xeeb tshaj yog nyob rau theem pib, vim nws yog thawj asymptomatic. May-Turner syndrome feem ntau pib thaum hluas thiab muaj ntau dua rau cov txiv neej dua li poj niam.
Raws li txoj kev kuaj mob tseem ceeb, ultrasound ntawm iliac veins ntawm lub plab mog yog siv. Thaum twglub xub ntiag ntawm tus kab mob, sab laug iliac leeg nyob rau hauv txoj kab uas hla yog ntau loj dua li qub. Txhawm rau kom paub meej qhov kev kuaj mob, kev sib nqus resonance angiography ntawm iliac leeg nrog qhov sib txawv yog siv. Nyob rau theem tom ntej ntawm tus kab mob, kev kho mob yog phais. Cov tshuaj feem ntau raug sau tseg kom rov ua kom cov ntshav ntws zoo.
Personage-Turner syndrome tsis tshua muaj nyob rau hauv kev kho mob thiab nws cov laj thawj tseem tsis tau tsim kom meej meej. Thawj lub teeb liab hais txog qhov muaj tus kab mob yog qhov mob tsis zoo ntawm lub xub pwg nyom lossis caj npab, tsawg dua ntawm ob txhais caj npab tib lub sijhawm. Ntau tus neeg uas muaj tus kab mob no thawj zaug tsis xav txog qhov yuav tsum tau nrhiav kev pab los ntawm tus kws tshaj lij, vam tias cov tsos mob yuav ploj mus ntawm lawv tus kheej.
Mob yuav tsis ploj mus rau hnub, qee lub lis piam. Qhov mob yog aggravated los ntawm kev txav mus los thiab txo qis yog tias tus ceg ceg tau so. Ntau tus neeg mob nres tsim lawv txhais caj npab, uas yog vim li cas cov leeg nqaij dystrophy tshwm sim dhau sijhawm. Rau cov neeg feem coob, tus kab mob no daws tau lub sijhawm tsis muaj kev cuam tshuam. Qee zaum muaj zog analgesics yuav tsum tau. Qhov ua rau Personage-Turner syndrome yog qhov txaus siab rau cov kws kho mob, tab sis tseem tsis tau kawm. Kev kis tus kab mob no tseem tsis tau paub.
