Shereshevsky Turner syndrome - Ichi chirwere chechromosomal, chinoratidzirwa mukusagadzikana kwekukura kwemuviri, muhucheche hwepabonde uye hupfupi. Chikonzero chechirwere ichi chinonzi monosomy, kureva kuti, munhu anorwara ane imwe chete yepabonde X chromosome.
Chirwere ichi chinokonzerwa nekutanga gonadal dysgenesis, iyo inoitika semugumisiro wekusagadzikana kweiyo X chromosome yepabonde. Maererano nehuwandu, kune 3000 vachangoberekwa, mwana 1 achaberekwa ane chirwere cheShereshevsky-Turner. Vatsvakurudzi vanocherechedza kuti nhamba yechokwadi yezviitiko zvechirwere ichi hachizivikanwi, sezvo kuparara kwepamuviri kunowanzoitika kune vakadzi mukutanga kwepamuviri nekuda kweiyo genetic disorder. Kazhinji, chirwere chacho chinowanikwa muvana vechikadzi. Kashoma, chirwere ichi chinowanikwa muvana vachangozvarwa vechirume.
Synonyms of Shereshevsky-Turner syndrome ndiwo mazwi "Ulrich-Turner syndrome", "Shereshevsky syndrome", "Turner syndrome". Vese masayendisiti aya vakabatsira pakudzidza kweiyi pathology.
Zviratidzo zveTurner syndrome
Zviratidzo zveTurner syndrome zvinotanga kuoneka kubva pakuzvarwa. Mufananidzo wekiriniki wechirwere ndeokuti:
Vana vanowanzozvarwa nguva isati yakwana.
Kana mwana akazvarwa nenguva, ipapo uremu hwemuviri wake uye kureba zvichaderedzwa kana zvichienzaniswa neavhareji kukosha. Vana vakadaro vanoyera kubva 2,5 kg kusvika 2,8 kg, uye urefu hwemuviri wavo haupfuuri 42-48 cm.
Mutsipa wemwana achangoberekwa unopfupiswa, kune mapete pamativi ayo. Mukurapa, chirwere ichi chinonzi pterygium syndrome.
Kazhinji panguva yekuzvarwa, kukanganisa kwemoyo kwechimiro chekuzvarwa, lymphostasis inowanikwa. Makumbo nemakumbo, pamwe chete nemaoko emwana, akazvimba.
Nzira yekuyamwa mumwana inovhiringidzika, kune tsika yekudzokorora nguva dzose nechitubu. Kune motor kusagadzikana.
Nekuchinja kubva paucheche kusvika paudiki, pane kusakara kwete mumuviri chete asiwo mukukura kwepfungwa. Kutaura, kutarisa, kuyeuka kunotambura.
Mwana anowanzoita kuti adzoke zvakare otitis media nekuda kwaanoita conductive kunzwa kurasikirwa. Otitis media inowanzoitika pakati pemakore matanhatu ne6 emakore. Mukukura, vakadzi vanowanzoita kufambira mberi kwekunzwa kurasikirwa kwekunzwa, izvo zvinotungamira mukurasikirwa kwekunzwa mushure memakore 35 uye kupfuura.
Nekuyaruka, kureba kwevana hakupfuuri 145 cm.
Kuonekwa kwevechiri kuyaruka kune hunhu hwechirwere ichi: mutsipa mupfupi, wakafukidzwa nemapeta epterygoid, chimiro chechiso hachitauri, chine usimbe, hapana makwinya pahuma, muromo wezasi wakakora uye sags (chiso che myopath. kana chiso che sphinx). Mutsara webvudzi haufungidzirwe, auricles akaremara, chifuva chakafara, pane anomaly yedehenya nekusakura kweshaya yezasi.
Kutyorwa kakawanda kwemapfupa nemajoini. Zvinokwanisika kuziva hip dysplasia uye kutsauka kwejojo yegokora. Kazhinji, kuputika kwemapfupa egumbo rezasi, kupfupika kwechigunwe chechina ne4 pamaoko, uye scoliosis inowanikwa.
Kusakwana kwekugadzirwa kweesrogen kunotungamirira kukura kwe osteoporosis, iyo, iyo, inokonzera kuitika kwekuputsika nguva dzose.
Denga repamusoro gothic rinobatsira mukushandurwa kwezwi, zvichiita kuti inzwi raro rive rakakwirira. Panogona kunge paine kukura kusina kujairika kwemazino, izvo zvinoda kururamisa orthodontic.
Sezvo murwere achikura, lymphatic edema inonyangarika, asi inogona kuitika panguva yekushanda kwemuviri.
Unyanzvi hwehungwaru hwevanhu vane Shershevsky-Turner syndrome hahuna kukanganisa, oligophrenia haina kunyanya kuongororwa.
Kusiyana, zvakakosha kucherechedza kutyorwa kwekushanda kweakasiyana-siyana nhengo uye organ system hunhu hweTurner's syndrome:
Pachikamu chegadziriro yekubereka, chiratidzo chinotungamira chechirwere ndechekutanga hypogonadism (kana kuti infantilism yepabonde). 100% yevakadzi vanotambura neizvi. Panguva imwecheteyo, hapana mafollicles mumavhavha avo, uye ivo pachavo vanomiririrwa netambo dzefibrous tissue. Chibereko hachina kukura, chakaderedzwa muhukuru maererano nezera uye physiological tsika. Nhubu dzakaita sescrotum, uye mboro diki, hymen neclitoris haina kunyatsokura.
Munguva yekuyaruka, vasikana vane underdevelopment yemammary glands ane inverted nipples, bvudzi rakashomeka. Nguva dzinononoka kana kusatombotanga. Kusabereka kazhinji chiratidzo cheTurner's syndrome, zvisinei, nezvimwe zvakasiyana-siyana zvekugadziriswa kwemajini, kutanga uye kubereka pamuviri kunoramba kuchigoneka.
Kana chirwere ichi chikaonekwa muvarume, saka pachikamu chegadziriro yekubereka vane nyonganyonga mukuumbwa kwemachende ne hypoplasia yavo kana bilateral cryptorchidism, anorchia, yakanyanya kuderera ye testosterone muropa.
Kudivi remoyo, pane kazhinji kacho ventricular septal defect, yakavhurika ductus arteriosus, aneurysm uye coarctation yeaorta, coronary moyo chirwere.
Pachikamu cheurinary system, kupetwa kaviri kwepelvis, stenosis yetsinga dzetsvo, kuvepo kweitsvo yakaita sehove, uye nzvimbo isingaenzaniswi yetsinga dzetsvo zvinogoneka.
Kubva pakuona system: strabismus, ptosis, upofu hwemavara, myopia.
Zvinetso zvedermatological hazvishamisi, semuenzaniso, pigmented nevi muhuwandu hukuru, alopecia, hypertrichosis, vitiligo.
Kudivi remudumbu, pane njodzi yakawedzera yekubatwa negomarara remudumbu.
Kubva kune endocrine system: Hashimoto's thyroiditis, hypothyroidism.
Metabolic kusagadzikana kazhinji inokonzeresa kukura kwerudzi rweXNUMX chirwere cheshuga. Vakadzi vanowanzoita kufutisa.
Zvikonzero zveTurner Syndrome
Zvikonzero zveTurner syndrome zviri mune genetic pathologies. Nheyo yavo ndeyekutyorwa kwenhamba muX chromosome kana kutyorwa muchimiro chayo.
Kutsauka mukugadzirwa kweX chromosome muTurner syndrome inogona kuve yakabatana neanotevera anomalies:
Muzviitiko zvakawanda, monosomy ye X chromosome inowanikwa. Izvi zvinoreva kuti murwere arikushaya kechipiri chromosome yebonde. Kutyora kwakadaro kunowanikwa mu60% yezviitiko.
Akasiyana siyana anomalies muX chromosome anoonekwa mu20% yezviitiko. Izvi zvinogona kuve kubviswa kweruoko rurefu kana rupfupi, X / X mhando chromosomal translocation, kuguma kudzima mumaoko ese eX chromosome ine chitarisiko chemhete chromosome, nezvimwe.
Imwe 20% yezviitiko zvekuvandudzwa kweShereshevsky-Turner syndrome inoitika mune mosaicism, ndiko kuti, kuvapo mumasumbu evanhu emasero akasiyana-siyana akasiyana-siyana.
Kana iyo pathology ikaitika muvarume, saka chikonzero chingave mosaicism kana translocation.
Panguva imwecheteyo, zera remukadzi ane pamuviri harina kukanganisa kuwedzera kwengozi yekuzvarwa kwemwana achangoberekwa ane Turner syndrome. Ose ari maviri ehuwandu, hunhu, uye structural pathological shanduko muX chromosome inoitika nekuda kwekusiyana kwemeiotic yemakromosomes. Munguva yekuzvitakura, mukadzi anotambura ne toxicosis, ane njodzi yakakura yekubvisa pamuviri uye njodzi yekutanga kusununguka.
Kurapa kweTurner's syndrome
Kurapa kweTurner's syndrome kune chinangwa chekusimudzira kukura kwemurwere, pakuita kuti kuumbwa kwezviratidzo zvinotarisisa murume kana mukadzi. Kune vakadzi, vanachiremba vanoedza kudzora kutenderera kwekuenda kumwedzi uye kuzadzisa iyo normalization mune ramangwana.
Paudiki, kurapwa kunouya kusvika pakutora vhitamini complexes, kushanyira hofisi yemasseur, uye kuita kurovedza muviri. Mwana anofanira kuwana kudya kwakanaka.
Kuti uwedzere kukura, hormonal therapy nekushandiswa kwehomoni Somatotropin inokurudzirwa. Inoitwa nejekiseni subcutaneously zuva rega rega. Kurapa neSomatotropin kunofanira kuitwa kusvika kumakore gumi nemashanu, kusvikira kukura kwekukura kunoderera kusvika 15 mm pagore. Ipa mushonga panguva yekurara. Kurapa kwakadaro kunobvumira varwere vane Turner's syndrome kukura kusvika 20-150 cm. Vanachiremba vanokurudzira kubatanidza kurapwa kwehomoni nekurapa vachishandisa anabolic steroids. Kugara uchitariswa na gynecologist uye endocrinologist kwakakosha, sezvo kurapa kwehomoni nekushandiswa kwenguva refu kunogona kukonzera matambudziko akasiyana.
Estrogen replacement therapy inotanga kubva panguva apo wechidiki anosvika makore gumi nematatu ekuberekwa. Izvi zvinokutendera kuti utevedzere kuyaruka kwakajairika kwemusikana. Mushure megore kana gore nehafu, zvinokurudzirwa kutanga cyclic course yekutora estrogen-progesterone oral contraceptives. Hormone therapy inokurudzirwa kuvakadzi kusvika kumakore makumi mashanu. Kana murume akabatwa nechirwere, zvino anokurudzirwa kutora mahomoni echirume.
Kukanganisa kwezvizoro, kunyanya, kupeta pamutsipa, kunobviswa nerubatsiro rwepurasitiki.
Nzira yeIVF inobvumira vakadzi kubata pamuviri nekuisa zai remupiro kwaari. Zvisinei, kana zvishoma zvenguva pfupi ovarian basa rinoonekwa, zvino zvinokwanisika kushandisa vakadzi kuti vafudze masero avo. Izvi zvinogoneka kana chibereko chasvika pakukura.
Mukusavapo kwekuremara kwakanyanya kwemoyo, varwere vane Turner syndrome vanogona kurarama kusvika pakukwegura kwepanyama. Kana iwe ukaomerera kune chirongwa chekurapa, zvino zvinogoneka kugadzira mhuri, kurarama hupenyu hwepabonde hwakajairika uye kuva nevana. Kunyange zvazvo ruzhinji rwevarwere runoramba rusina vana.
Matanho ekudzivirira chirwere anoderedzwa kusvika kubvunzurudzo neine geneticist uye prenatal diagnosis.