I-Klinefelter's Syndrome - Isimo sofuzo esithinta amadoda
I-Klinefelter's syndrome yimeko yezofuzo ezichaphazela kuphela amadoda. Nakhu okumele ukwazi malunga nezizathu, iimpawu kunye neendlela zokonyango kwimeko.
Yintoni uKlinefelter's Syndrome?
I-Klinefelter's syndrome ngumntu ongaqhelekanga ochaphazelekayo ochaphazela kuphela amadoda. Ebizwa emva kokudokotela waseMelika uHarry Klinefelter ngowe-1942, isifo sikaKlinefelter sithinta malunga nanye kwindoda engama-500 esandula ukuzalwa, okwenza kube yinto engavamile kakhulu yokuzalwa kwemvelo.
Ngexesha langoku, ixesha eliqhelekileyo lokuxilongwa liphakathi kwe-30s, kwaye kucingelwa ukuba kuphela malunga neyesine yamadoda ane-syndrome abayifumene ngokusemthethweni. Iimpawu eziqhelekileyo zesifo seKlinefelter ziquka ukuphuhlisa ngokwesondo kunye nokuzala, nangona kumntu ngamnye, ubunzima beempawu ziyahluka ngokubanzi. Isiganeko se-Klinefelter's syndrome kucingelwa ukuba sanda.
I-Genetics yeKlinefelter's Syndrome
I-Klinefelter's syndrome ibonakala ngokungavamile kuma- chromosomes okanye izinto eziphathekayo zofuzo ezenza i-DNA yethu.
Ngokuqhelekileyo sinama-chromosomes angama-46, 23 ukusuka koomama kunye no-23 ovela kubaba. Kule, i-44 i-autosomes kunye ne-2 i-chromosomes yesini. Ubulili bomntu bunqunywe ngama-X kunye nee-chromosomes kunye nabesilisa abane-X kunye ne-Y ye-chromosome (i-XY ilungiselelo) kunye namabhinqa anama-chromosomes amabili (i-XX ilungiselelo.) Kwamadoda, i-chromosome ye-Y ivela kubaba kunye nokuba I-X okanye i-Y ye-chromosome evela kumama.
Ukubeka oku kunye, i-46, i-XX ibhekisela kumfazi wesine-46, i-XY ichaza indoda.
I-Klinefelter syndrome yimeko ye-trisomy, ngokubhekiselele kwimeko apho ezintathu, kunokuba zibe ngama-chromosomes angama-autosomal okanye i-chromosomes yesondo. Esikhundleni sokuba nama-chromosomes angama-46, abo bane-trisomy baneama-chromosomes angama-47 (nangona kukho ezinye iimeko ezinokuthi i-Klinefelter syndrome ixoxwe ngezantsi.)
Abantu abaninzi bayazi kakuhle i-Down syndrome. I-Down syndrome yi-trisomy apho kukho ama-chromosomes amathathu angama-21. Eli lungiselelo liza kuba ngu-47XY (+21) okanye i-47 XX (+21) kuxhomekeke ekubeni ingaba umntwana uyindoda okanye ibhinqa.
I-Klinefelter syndrome yi-trisomy ye-chromsomes yesini. Okuqhelekileyo (malunga ne-82 ekhulwini yexesha) kukho i-X eyongezelelweyo ye-chromosome (i-XXY ilungiselelo.)
Kwimizuzu engama-10 ukuya kwe-15 yamadoda ane-syndrome kaKlinefelter, nangona kunjalo, kukho umzekelo womzobo, apho kukho ukuhlanganiswa kwe-chromosomes yesini, ngaphezu kwe-46XY / 47XXY. (Kukho abantu abane- syndrome ye-mosaic .)
Okungaqhelekanga nenye inhlanganisela ye-chromosomes yesondo efana ne-48XXX okanye 49XXXX.
Ngomzimba ka-Klinefelter's syndrome, iimpawu kunye neempawu ziba nzima, kanti ezinye idibaniso, ezinjenge-49XXXX zivame ukuphumela kwimpawu ezinzulu.
Ukongeza kwi-Klinefelter's syndrome kunye ne-Down syndrome zikhona ezinye iintlobo zabantu .
Izifo ze-Genetic zeKlinefelter's Syndrome - i-Nondisjunction kunye neengozi ekuphenduleleni kwi-Embryo
I-Klinefelter's syndrome ibangelwa yimpazamo ye-genetic ephosakeleyo eyenzeka ngexesha lokwakheka kweqanda okanye isidoda, okanye emva kokukhulelwa.
Ngokuqhelekileyo, isifo sikaKlinefelter senziwa ngenxa yenkqubo ebizwa ngokuba yi-nondisjunction kwiqanda okanye i-sperm ngexesha le-meiosis.
I-Meiosis yinkqubo eyenziwa yimizimba yezinto zobomi kwaye yahlula ukwazisa ikopi yezinto eziphathekayo kwiiqanda okanye idiza. Kwi-nondisjunction, izinto zofuzo zihlukileyo. Umzekelo, xa iseli lihlula ukudala iiseli ezimbini (amaqanda) nganye kunye nekopi enye ye-X i-chromosome, inkqubo yohlula iyahamba ukuze i-X i-chromosomes ifike kwiqanda elinye kwaye elinye iqanda lingamkeli i-X chromosome.
(Imeko apho kungabikho kwe-chromosome yesondo kwiqanda okanye isidoda singabangela imeko ezifana ne-Turner syndrome, "i-monosomy" ene-45, i-XO.)
I-Nondisjunction ngexesha le-meiosis kwiqanda okanye i-sperm yimbangela eqhelekileyo ye-Klinefelter's syndrome, kodwa imeko ingaba nayo ngenxa yeephene kwi-division (ukuphindaphinda) kwe-zygote elandela ukuchumisa.
Izinto zeengozi zeKlinefelter's Syndrome
I-Klinefelter's syndrome ibonakala ivela rhoqo rhoqo kunye nomdala osekhulile kunye noyise (ngaphezu kweminyaka yobudala engama-35.) Umama obeletha ngaphezu kweminyaka engama-40 unamaxesha amabini ukuya kathathu amathuba okuba nomntwana onesifo sikaKlinefelter kunomama uneminyaka engama-30 ekuzalweni. Okwamanje asiyazi nayiphi na ingozi ye-Klinefelter's syndrome eyenzeka ngenxa yeeposiso kwizahlulo emva kochumiso.
Kubalulekile ukuba uqaphele kwakhona ukuba ngelixa i-Klinefelter isifo se-genetic, ayidla "ifa" kwaye ngenxa yoko "ayiyithokozeli kwiintsapho." Kunoko, kubangelwa ngengozi engahleliyo ngexesha lokwenziwa kweqanda okanye isidoda, okanye kungekudala emva kokukhulelwa. Iminye into engafanelekanga xa isidoda esivela kumntu one-Klinefelter's syndrome isetyenziselwa ukuchumisa in vitro (jonga ngezantsi).
Iimpawu zeKlinefelter's Syndrome
Amadoda amaninzi angaphila nge-X ye-chromosome kwaye ayifumana iimpawu. Enyanisweni, amadoda angafumana okokuqala xa ekhona kuma-20s, ama-30s, okanye aphakamileyo, xa i-infertility workup ithola i-syndrome.
Kubantu abanempawu kunye neempawu, ezi zihlala zikhula ngexesha lokukhulelwa xa ii-testes zingaqhubeki njengoko zifanele. Izimpawu neempawu ze-Klinefelter's syndrome zingabandakanya:
- Ukwandiswa kwamabele ( gynecomastia .)
- Amancinci amancinane.
- Ipenis encinci .
- Ubunzima bomzimba obusenyakatho kunye nomzimba.
- Ukungaqhelekanga komzimba (ngokuqhelekileyo ukuthambekela kokuba nemilenze ende kunye nesiqu esifutshane.)
- Ukukhubazeka kwengqondo - Ukukhubazeka ukufunda, ngokukodwa ukuxhalabisa ngeelwimi kunokuqhelekileyo kunabo abangenayo i-syndrome, nangona iimeko zengqondo ziqhelekile.
- Ukunciphisa libido.
- Ukungenanto - Njengoko kubonisiwe, amadoda amaninzi akaqapheli ukuba ayenayo iKlinefelter de bazama ukuqalisa intsapho yabo, njengokuba amadoda anesimo asivelisi isidoda kwaye awanako. Iimvavanyo ze-Genetic ziza kubonakalisa ubukho be-chromosome eyongezelelweyo kwaye yindlela efanelekileyo kakhulu yokufumanisa i-Klinefelter.
Ukuxilongwa kwe-Klinefelter's Syndrome
Ukuxilongwa kwe-Klinefelter's syndrome, njengoko kuphawuliwe ngasentla, kudlalwa xa umntu ebonisa ukungabikho kwengqondo kwaye ukungabi nalutho lwesilisa kufumaneka kwisampula yesidoda. Uvavanyo lwe-karyotype lwezofuzo lungasetyenziselwa ukuqinisekisa ukuxilongwa.
Kwiimvavanyo zesebe, inqanaba eliphantsi le testosterone liqhelekileyo, kwaye lidla ngokuba ngama-50 ukuya kuma-75 ekhulwini ngaphantsi kunamadoda ngaphandle kwe-Klinefelter's syndrome. Gcina ukhumbule ukuba kukho izimbangela ezininzi zamanqanaba aphantsi e-testosterone kumadoda ngaphezu kwe-Klinefelter's syndrome.
I-Gonadotropins, ingakumbi i-hormone ekhuthaza i-hormone (i-FSH) kunye ne-hormone ye-luteini (LH) iphakanyisiwe, kwaye amanqanaba e-plasma estradiol ayenyuka (ngenxa yezizathu ezingaziwa.)
Izinketho zokwelapha kwi-Klinefelter's Syndrome
I-androgen unyango (iintlobo ze-testosterone) yindlela eqhelekileyo yokonyango ye-Klinefelter's syndrome kwaye ingaba nemiphumo emihle, kubandakanywa nokuphucula i-sex drive, ukukhuthaza ukunyuka kweenwele, ukwandisa amandla omzimba kunye namanqanaba emandla kunye nokunciphisa amathuba okunyuka kwe-osteoporosis. Nangona unyango lunokuphucula eziliqela iimpawu kunye neempawu zesifo, akuqhelekanga ukubuyisela inzala (jonga ngezantsi.)
Ukuphelelwa (ukunciphisa isisu) kunokufuneka xa kunokwandiswa kwebele (gynecomastia) kwaye kunokuba luncedo kakhulu kumbono womzwelo.
I-Klinefelter's Syndrome kunye nokungafihli
Amadoda ane-Klinefelter's syndrome ayisoloko engaphelelanga, nangona abanye abantu abane-syndrome ye-Klinefelter yomzimba abanamathuba okuba bafumane ukungabikho komntwana.
Ukusebenzisa iindlela ezikhuthazayo, ezifana ne-gonadotropic okanye i-androgenic ukuvuselela njengoko kwenziwa ngezinye iintlobo zokungabikho kwamadoda angasebenzi ngenxa yokungabi naluphuhliso lwama-testes kwindoda eno-Klinefelter's syndrome.
Ukhula lunokubakho ngokugqithisa ngokugqithisileyo isidoda esivela kwiimvavanyo, bese usebenzisa in vitro fertilization. Ngelishwa, kufunyenwe ukuba ukusebenzisa i-IVF kunye nesidoda esivela kumadoda ene-syndrome kaKlinefelter kunokunyusa umngcipheko wento ebizwa ngokuba ne-aneuploidy. Ukuba abantu banqwenela ukuqwalasela olu khetho, bafanele baqonde ngokucacileyo ukuba uhlalutyo lwe-genomics yesidoda lwenziwa njani ngaphambi kokumiselwa.
Ukungabikho kwamadoda kubantu abane-syndrome kaKlinefelter kuvulwa ukukhathazeka ngokwemvakalelo, ukuziphatha kunye nokuziphatha kwiibini ezange zingekho phambi kokufika kwe-vitro fertilization. Ukuthetha nomcebisi wezofuzo ukuze uqonde ingozi, kwakunye neendlela zokuvavanya phambi kokuba uqaliswe, kubaluleke kunoma ubani oqwalasela le mpiliso.
I-Klinefelter's Syndrome kunye nezinye iingxaki zezeMpilo
Amadoda ane-syndrome kaKlinefelter athambekele ukuba abe ngaphezu kweyona nomyinge wemilinganiselo yezempilo engapheli kunye nokuphila okufutshane kunabantu abangenayo i-syndrome. Oku kuthetha, kubalulekile ukuphawula ukuba unyango olunjenge-testosterone lutshintsho luya kufundiswa oluya kutshintsha la "manani" kwixesha elizayo. Ezinye iimeko eziqhelekileyo kumadoda ane-Klinefelter's syndrome ziquka:
- Umhlaza wesifuba - Umhlaza wesifuba kumadoda ane-Klinefelter syndrome ngamaxesha angama-20 aqhelekileyo kunabantu abangenawo uKlinefelter syrome
- Osteoporosis
- Izilonda zejeremini
- Izibetho
- Izimo ezizenzekelayo ngokuzenzekelayo njenge-systemic lupus erythematosis
- Izifo zesifo senhliziyo
- Iimvumba ze-Varicose
- I-deep vein thrombosis
- Ukunyanya
- Isifo se-Metabolic syndrome
- Uhlobo lwe-2 lweswekile
I-Klinefelter's Syndrome - Isimo esingaphantsi kwengxaki
Kucingelwa ukuba i-Klinefelter's syndrome ayifumanwanga, ngokuqikelela ukuba ama-25 eepesenti kuphela amadoda aphethe isifo sokuxilongwa (ekubeni isoloko ixilongwa ngethuba lokuhlolwa kwengqondo.) Okokuqala kungabonakali ukuba yingxaki, kodwa amadoda amaninzi ukuxhatshazwa kwiimpawu kunye neempawu zalo mqathango unokuphathwa, ukuphucula umgangatho wobomi. Ukwenza ukuxilongwa kubalulekile ngokunxulumene nokuhlolwa kunye nokulawulwa kakuhle kweemeko zonyango apho aba bantu besengozini eyongeziweyo.
Imithombo:
Calogero, A., Giaqulli, V., Mongioi, L. et al. I-Klinefelter Syndrome: I-Cardiovascular Impairmentality and Distamination Disorders. Umbhalo woPhando lwe-Endocrinological . Ngo-2017 uMar 3. (i-Epub ngaphambi kokuprinta).
Groth, K., Skakebaek, A., Host, C., Gravholt, C., no A. Bojesen. Ukuhlaziywa Kwezonyango: I-Klinefelter Syndrome - Uhlaziyo lwezonyango. Umbhalo we-Clinical Endocrinology kunye neMetabolism . 2013. 98 (1): 20-30.
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