Klinefelter's Syndrome - Chirwere Chinokanganisa Kuita Varume
Klinefelter's syndrome is genetically condition that affects only men. Hezvino izvo zvaunofanira kuziva pamusoro pezvinokonzera, zviratidzo uye nzira dzekurapa kwechiitiko.
Chii Chinonzi Klinefelter's Syndrome?
Klinefelter's syndrome ndeyekusava nemafungiro ezvisikwa zvinokanganisa varume chete. Achitumidzwa mushure mechiremba weAmerican Harry Klinefelter muna 1942, chirwere cheKlinefelter chinokanganisa anenge mumwe muvarume vachangobva kuberekwa mazana mashanu, zvichiita kuti zvive zvakajairika zvemasvikiro.
Parizvino, nguva inoshandiswa yekuongororwa iri pakati pemakore ekuma30, uye inofungidzirwa kuti kungodaro nechechina chevarume vane chirwere chinogara chichiongororwa zviri pachena. Zviratidzo zvakajairika zveKlinefelter's syndrome zvinosanganisira kukura kwepabonde uye kubereka, kunyange kune varume vari voga, kuoma kwezviratidzo kunogona kusiyana zvakasiyana. Chiitiko cheKlinefelter's syndrome chinofungidzirwa chiri kuwedzera.
The Genetics of Klinefelter's Syndrome
Klinefelter's syndrome inoratidzika sechinhu chisingaoneki mumakromosomes kana mazita ezvisikwa zvinoita DNA yedu.
Kazhinji tine ma chromosomes 46, 23 kubva kumadzimai edu uye 23 kubva kuna baba vedu. Pakati idzi, 44 vane autosomes uye 2 vane chromosomes zvepabonde. Kuita zvepabonde kwevanhu kunotsanangurwa ne X uye Y chromosomes nevarume vane imwe X uye imwe Y chromosomes (ye XY urongwa) uye vakadzi vane maviri X chromosomes (an XX urongwa.) Muvarume, Y chromosome inobva kuna baba uye zvimwe X kana Y chromosome inobva kuna amai.
Kuisa izvi pamwe chete, 46, XX inoreva mukadzi ane 46, XY inotsanangura murume.
Klinefelter syndrome chirwere chetrisomy, achitaura nezvemamiriro ezvinhu matatu, pane maviri emakromosom autosomal kana chromosomes zvepabonde aripo. Panzvimbo pokuva nemakromosomes makumi mana, avo vane trisomy vane ma chromosomes 47 (kunyange pane zvimwe zvingaita neKlinefelter syndrome inokurukurwa pasi apa.)
Vanhu vazhinji vanoziva Down syndrome. Down syndrome inonzi trisomy umo mune ma chromosomes matatu matatu. Urongwa hwaizova 47XY (+21) kana 47 XX (+21) zvichienderana nokuti mwana wacho aiva mukomana here kana kuti mukadzi.
Klinefelter syndrome is trisomy yechromsomes yepabonde. Kazhinji kazhinji (inenge 82 kubva muzana yenguva) kune imwe yero X chromosome (an XXY chirongwa.)
Muna 10 kusvika ku15 muzana yevarume vane Klinefelter's syndrome, zvisinei, pane maitiro e mosaic, umo maitiro emakromosomes ezvepabonde akawanda anowanikwa, zvakadai se 46XY / 47XXY. (Kunewo vanhu vane musikirwo wemapurisa .)
Zvisiri zvishoma zvinowanzobatanidzwa zvekromosomes zvepabonde se 48XXY kana 49XXXXY.
Nechimiro cheKlinefelter's syndrome, zviratidzo uye zviratidzo zvinogona kuva zvakanyanya, asi zvimwe zvibatanidzwa, zvakadai se 49XXXY zvinowanzokonzera zviratidzo zvakanyanya.
Mukuwedzera kune Klinefelter's syndrome uye Down syndrome kune mamwe maitiro evanhu .
Genetic Causes of Klinefelter's Syndrome - Nondisjunction and Accidents in Replication in the Embryo
Klinefelter's syndrome inokonzerwa nekukanganisa kwakaitwa mazai ekuberekwa kwemai kana kuti mushure, kana mushure mekuberekwa.
Kazhinji kacho, klinefelter's syndrome inobatwa nekuda kwekugadziriswa kunonzi nondjunjunction muzai kana chirume panguva yeiiosis.
Meiosis ndiyo nzira inoshandiswa kuwedzera mazita emagetsi uye inogoverwa kuti ipe ruzivo rweiyo genetic kune yai kana chirume. Mune nondisjunction, ruzivo rwemashoko haruna kuparadzana zvakashata. Somuenzaniso, apo sero rinoparadzanisa kuita masero maviri (mazai) mumwe nomumwe nekopi imwe ye X chromosome, nzira yekuparadzanisa inoenda sokew kuitira kuti maviri X chromosomes asvike mune rimwe dza uye imwe imwe yega haigamuchiri X chromosome.
(Mamiriro ezvinhu umo kusina kromosome yepabonde iri muzai kana kuti chirume chinogona kukonzera mamiriro akadai seT Turner syndrome, "monosomy" ine urongwa hwe 45, XO.)
Nondisjunction munguva yeiiosis muzai kana chirume ndicho chikonzero chinonyanya kukonzera klinefelter's syndrome, asi mamiriro acho anogonawo kuitika nekuda kwezvikanganiso mukuparadzanisa (kudzokorora) kweyygote inotevera hutano.
Njodzi Zviitiko zveKlinefelter's Syndrome
Klinefelter's syndrome inoratidzika kuti inowanzoitika kune vose vakwegura nemakore ekuberekwa (vanopfuura makore makumi matatu.) Amai vanozvara makore makumi mana ndevamwe vanogona kuva nemwana ane Klinefelter's syndrome kupfuura amai ane makore makumi matatu ekuberekwa. Isu isu hatizivi nezvekupi kwezvinhu zvinokonzerwa neKlinefelter's syndrome inowanikwa nekuda kwezvikanganiso mukuparadzaniswa mushure mekuberekwa.
Zvakakosha kucherechedza zvakare kuti kunyange Klinefelter's genetic syndrome, haisi "nhaka" uye naizvozvo "hainakidze mumhuri." Pane kudaro, inokonzerwa nenjodzi isina kuitika panguva yekuumbwa kweii kana chirume, kana nguva pfupi mushure mekuberekwa kunoitika. Chimwe chinogona kunge chiripo apo chirume kubva kumunhu ane Klinefelter's syndrome chinoshandiswa mu in vitro fertilization (ona pasi apa.)
Zviratidzo zveKlinefelter's Syndrome
Varume vazhinji vanogona kurarama nehuwandu hweC chromosome uye havaoni zviratidzo. Kutaura zvazviri, varume vanogona kutanga vaongororwa kana vari mumakore avo makumi maviri, makumi matatu, kana kupfuura, apo kusagadzikana kwekusagadzikana kunowanikwa chirwere.
Kune varume vane zviratidzo uye zviratidzo, izvi zvinowanzokura munguva yekuyaruka apo ma testes haasati awedzere sezvaanofanira. Zviratidzo nezviratidzo zveKlinefelter's syndrome zvinogona kusanganisira:
- Mazamu akawedzerwa ( gynecomastia .)
- Zvinyorwa zvishoma, zvakasimba.
- Small penis .
- Bvudzi rakanyanya uye bvudzi.
- Nhengo dzisina muviri dzakakosha (kazhinji tsika yekuve nemakumbo marefu uye pfuti shoma.)
- Kuremara kwepfungwa - Kuremara kudzidza, kunyanya kunetseka mumitauro kunowanzoonekwa kupfuura kune vasina vasina chirwere, kunyange zvazvo kuongororwa kwenjere kunowanzojairika.
- Yakaderera libido.
- Infertility - Sezvakataurwa, varume vakawanda havazivi kuti vane Klinefelter kusvikira vari kuedza kutanga mhuri yavo pachavo, sezvo varume vane chirwere chacho vasingabereki mbeu uye naizvozvo havana kubereka. Genetic tests icharatidza kuvapo kwechimwe chinyorwa che X chromosome uye ndiyo nzira yakanakisisa yekuziva kuti Klinefelter's.
Kuongororwa kweKlinefelter's Syndrome
Kuonekwa kweKlinefelter's syndrome, sezvataurwa pamusoro apa, kunowanzoitwa apo murume anopa kushaya simba uye kusava nemhombwe kunowanikwa pane unhu hwemuviri. A test gene karyotype inogona kushandiswa kusimbisa kuongororwa.
Pamuedzo, maitiro epasi e testosterone anojairika, uye anowanzova 50 kusvika ku75 muzana pasi kudarika varume pasina Klinefelter's syndrome. Ramba uchiyeuka kuti kune zvikonzero zvakawanda zvepasi testosterone mazinga muvarume kuwedzera kune Klinefelter's syndrome.
Gonadotropins, zvikurukuru follicle inokonzera hormone (FSH) uye luteinizing hormone (LH) inokudzwa, uye mazinga e plasma estradiol anowanzowedzerwa (nekuda kwezvikonzero zvisingazivikanwi.)
Kurapa Zvokuda kwaKlinefelter's Syndrome
Androgen therapy (maitiro e testosterone) ndiyo nzira yakajairika yehutano hweKlinefelter's syndrome uye inogona kuva nemigumisiro yakawanda, kusanganisira kuvandudza zvepabonde, kukurudzira bvudzi kukura, kuwedzerwa simba remasumbu uye masimba emagetsi, uye kuderedza mikana yeasteoporosis. Kunyange zvazvo kurapa kunogona kuwedzera huwandu hwezviratidzo nezviratidzo zvehutano, hazviwanzodzorera kubereka (ona pasi apa.)
Kuvhiya (kunonoka kwezamu) kunogona kudikanwa kuti kuve nekuwedzera kwemazamu (gynecomastia) uye kunogona kubatsira zvikuru kubva pamanzwiro emanzwiro.
Klinefelter's Syndrome uye Infertility
Varume vane klinefelter's syndrome vanowanzotadza, kunyange zvazvo vamwe varume vane klinefelter's syndrome mosaic vashoma kuti vawane kusununguka.
Kushandisa nzira dzinokurudzira, dzakadai segonadotropic kana kuti androgenic kukurudzira sezvakaitwa kune dzimwe mhando dzekusava nemurume dzisingabatsiri nekuda kwekushayikwa kwekugadzirwa kwevhesi muvarume neKlinefelter's syndrome.
Kuchengetedza kunogona kuitika kuburikidza nekuvhiya chirwere chemuviri kubva kune ma testes, uye zvino kushandisa in vitro fertilization. Zvinosuruvarisa, zvakawanikwa kuti kushandisa IVF neukama kubva kuvanhu vane Klinefelter's syndrome kunogona kuwedzera njodzi yeanonzi aneuploidy. Kana varume vachida kufungisisa izvi, vanofanirwa kunyatsonzwisiswa kuti kutsvakurudza kwejenomiki yehuta inogona kuitwa sei kusati kwaiswa.
Kusakanganiswa kwevarume vane Klinefelter's syndrome kunovhura manzwiro ehupenyu, maitiro, uye maitiro kune vakaroorana avo vakanga vasati vasvika pamberi pokuuya kwe in vitro fertilization. Kutaura nemuongorori wemagetsi kuitira kuti unzwisise njodzi, pamwe chete nemasarudzo okuedza musati waiswa, inokosha kune ani zvake anofunga nezvezvirapa izvi.
Klinefelter's Syndrome uye Mamwe Matambudziko Ehutano
Varume vane klinefelter's syndrome vanowanzova nehuwandu huwandu huwandu huwandu hwehutano husingaperi uye kutarisira kwenguva shoma kupfuura varume vasina chirwere. Izvozvo zvakati, zvakakosha kuziva kuti kurapwa kwakafanana nekupindurwa kwe testosterone kuri kuongororwa izvo zvinogona kuchinja idzi "nhamba" munguva yemberi. Mimwe mamiriro ezvinhu anowanzoonekwa kune varume vane Klinefelter's syndrome anosanganisira:
- Kenza yepabonde - Kanzera yepabonde mune varume vane Klinefelter syndrome kanowanikwa ka20 kanopfuura pane varume pasina Klinefelter synrome
- Osteoporosis
- Germ cell tumors
- Strokes
- Mamiriro ezvinhu ega ega se systemic lupus erythematosis
- Congenital chirwere chemoyo
- Varicose veins
- Deep vein thrombosis
- Kuwedzera muviri
- Metabolic syndrome
- Tora 2 chirwere cheshuga
Klinefelter's Syndrome - Anonyatsozivikanwa Chiitiko
Zvinofungidzirwa kuti Klinefelter's syndrome haisi kuongororwa, uye inofungidzira kuti 25 muzana chete yevarume vane chirwere chinogamuchira kurapwa (sezvo inowanzoongororwa panguva yekuongorora kusapera.) Izvi zvingangoita sezviri pachena sechinhu chinetso, asi varume vakawanda kutambura kubva zviratidzo uye zviratidzo zvechiitiko chacho zvinogona kurapwa, kuvandudza mararamiro avo ehupenyu. Kuita kuti kuongororwa kunokosha zvakare pamusoro pekucherechedza uye kunyatsochenjerera kwehutano huripo varume ava vari kuwedzerwa ngozi.
Sources:
Calogero, A., Giaqulli, V., Mongioi, L. et al. Klinefelter Syndrome: Kutambura Kwemwoyo uye Matambudziko eMetabolic. Nyaya ye Endocrinological Investigation . 2017 Mar 3. (Epub mberi kwekudhinda).
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