Pakati peiyo neonatal pathologies iyo yakawanda inovhundutsa vakaroorana vachitarisira mwana, pane imwe iyo, kunyange ine "rinoshamisa" zita, yakawanda kwazvo kupfuura iyo inogona kuonekwa. Iyi iKlinefelter syndrome (KS), inongobata vanhurume uye ine fungidziro, asi isina kunyatsosimbiswa, kuwanda kwe1 inobatwa pa500 yekuzvarwa.
Ndiyo imwe yemhando dzakajairika dze aneuploidykana anomaly muhuwandu hwe machromosomes: Vanhurume vanowanzove ne46, izvo zvinosanganisira peya yemakromozomu ebonde, X uye Y; Vanhu vane chirwere ichi vane imwezve chromosome yebonde pane yakajairika XY seti uye nhamba yakazara ye 47 o mamwe machromosome.
Kunyange zvazvo nhamba isiri iyo isingawanzoitiki, iyo KS ichiri underdiagnosed y kusanzwisiswa. Hazvisi masanga kuti munguva yakapfuura, kuongororwa kwaiitwa munhu mukuru chete, "apo mamiriro acho akazivikanwa nekuda kwezvinetso zvinokonzerwa nekushaya mbereko kwevaviri.
Chii chinonzi Klinefelter Syndrome?
Sezvatakataura, syndrome naKlinefelter chirwere chechromosomal chinoratidzwa nekuvapo kwekuwedzera X chromosome muvarume. Imhaka yekukanganisa kwakangoerekana kwaitika panguva yemeiosis: baba veXX kana vaamai XY chromosome pair haina kupatsanura uye "embryo" nokudaro inogamuchira maviri X chromosome mukuwedzera kune Y chromosome.
Klinefelter syndrome inopa ne kunonoka kana kusakwana, bvudzi shoma, mazamu akakura zvakanyanya, uye kushaya mbereko. Vanhu vakawirwa nedambudziko iri vanowanzosangana nemamiriro ezvinhu akadai sekuora mwoyo, kufunganya, kudzidza uye matambudziko emutauro.
Kuongororwa kunoitwa kuburikidza nekuongororwa kwemuviri, kuongororwa ropa kuongorora mazinga emamwe mahormone, uye bvunzo yekaryotype, iyo inobatsira mukusimbisa imwe X chromosome.
Klinefelter syndrome, yakatanga kutsanangurwa muna 1942 naProfessor Henry Klinefelter, ndiyo chikonzero chinonyanya kukosha che hypogonadism , chirwere chekliniki chinoratidzwa ne testosterone yakaderera (homoni yemurume) uye yakaderedzwa testicular volume. Chiitiko chayo chakatenderedza 1: 500-1000 kuberekwa mhenyu uye ichangobva kubviswa kubva muboka rezvirwere zvisingawanzo uye inoonekwa se chirwere chisingaperi.
Zvikonzero zvinogona kupa Klinefelter syndrome
alteration hazvibvi pamufambiro usina kunaka waamai kana kuti wababa (kunyange zvazvo zera raamai rinopfuura makore 35 richiratidzika kuva rine basa) uye risiri nhaka; saka, kusiyana nezvimwe zvirwere zvechromosomal, Klinefelter syndrome haiti mumhuri, uye vabereki vane mwana anorwara havakwanisi kupfuura vamwe vakaroorana kuti vave nemumwe mwana ane chirwere ichi.
Chii chinosanganisira Klinefelter Syndrome?
Kana nhasi kuongororwa kwepamuviri izvo zvinoita kuti zvizivikanwe, kufungidzira kwekutanga kwakadaro kunokonzera matambudziko ekutaurirana uye kugamuchirwa na vabereki, kune izvo zvakafanira kutaura zvakajeka kuti chii zvinetso zvevana vavo: hurema hudiki midhudhudhu, linguistics, yekudzidza uye yakavambwa mukana wekusakwanisa kubereka. Zvinetso zvinogona kuitika, izvo vakaroorana vangatoda kushandisa kukanganisa kwepamuviri, zvichikurudzirwa pamusoro pezvose nekusaziva kwechirwere ichi.
Zvakanaka kuziva, zvisinei, kuti vana vachakwanisa kupinda zvidzidzo zvechikoro zvine pundutso, kudzidzira mitambo, kuchengetedza hukama hwenguva dzose uye kuita zvepabonde zvine mwero wakakwana, mitsetse. I graph.
Iyo pharmacological mbiru yekurapa kurapa ne testosterone.
Izvo zvinofanirwa kutorwa kwehupenyu kurwisa mufananidzo wehomoni wakashandurwa nechromosomal set. Muchirevo chechinyorwa ichi, pane imwe dambudziko pakuwana maitiro akasiyana-siyana e testosterone aripo iye zvino, akadai se transdermal patches kana gels uye jekiseni therapy nekugadzirira kwenguva refu, sezvo kugovera kwacho kwakasiyana-siyana uye kusingasviki muhurongwa hwose hwehutano hwehutano.7
Kurapa kunosanganisira testosterone kutsiva kurapwa uye, mune dzimwe nguva, kutaura, maitiro, physiotherapy uye kutsigira kwekuvhiya (kubvisa mazamu akawandisa).
Kufungidzira kwakanaka uye tarisiro yehupenyu yakaenzana neyehuwandu hwevanhu.