I-Klinefelter's Syndrome - Isimo Sezakhi Zofuzo Ezithinta Amadoda
I-Klinefelter's syndrome yisimo sezakhi zofuzo esithinta kuphela abesilisa. Nakhu okumele ukwazi mayelana nezimbangela, izimpawu kanye nezinketho zokwelapha zesimo.
Kuyini i-Klinefelter's Syndrome?
I-Klinefelter's syndrome iyinto engavamile yokwenza izakhi ezithinta abesilisa kuphela. Ebizwa ngemuva kokudokotela waseMelika uHarry Klinefelter ngo-1942, i-Klinefelter's syndrome ithinta cishe umuntu oyedwa engamadodana angama-500 azalwa, okwenza kube yinto engavamile kakhulu yesifo sofuzo.
Ngesikhathi samanje, isikhathi esilinganisiwe sokuxilongwa siseneminyaka engama-30, futhi kucatshangwa ukuthi cishe kuphela owesine wamadoda ane-syndrome ahlala ehlolwe ngokomthetho. Izimpawu ezivame kakhulu zesifo sikaKlinefelter sika zibandakanya ukuthuthukiswa ngokobulili nokuzala, nakuba kumuntu ngamunye, ubukhulu bezimpawu buhlukahluka kakhulu. Ucabanga ukuthi isifo se-Klinefelter's syndrome sanda.
I-Genetics kaKlinefelter's Syndrome
I-Klinefelter's syndrome ibonakala ngokungavamile kuma- chromosomes noma izinto eziphathekayo zofuzo ezakha i-DNA yethu.
Ngokujwayelekile sinama-chromosomes angu-46, 23 kusuka kumama no-23 kusuka kubaba wethu. Kulezi, ama-autosomes angu-44 no-2 yi-chromosomes ngokocansi. Ubulili bomuntu bunqunywa yi-X ne-Y chromosomes nabesilisa abane-X kanye ne-Y chromosome (i-XY ilungiselelo) nabesifazane abanama-chromosomes amabili amabili (i-XX ilungiselelo.) Kubesilisa, i-chromosome Y ivela kubaba noma I-X noma i-Y chromosome ivela kumama.
Ukubeka lokhu ndawonye, i-46, i-XX ibhekisela kumfazi oneminyaka engu-46, i-XY ichaza owesilisa.
I-Klinefelter syndrome yisimo se-trisomy, ngokubhekisela esimweni lapho kunezinhlobo ezintathu, kunezingqimba ezimbili ze-chromosomes noma i-chromosomes yobulili. Esikhundleni sokuba nama-chromosomes angu-46, labo abane-trisomy bane-47 ama-chromosomes (nanobe kukhona amanye amathuba ahlobene ne-Klinefelter syndrome exoxwe ngezansi.)
Abantu abaningi bajwayele i-Down syndrome. I-Down syndrome i-trisomy lapho kunama-chromosomes amathathu angu-21. Loluhlelo lungaba ngu-47XY (+21) noma i-47 XX (+21) kuye ngokuthi ngabe umntwana uyindoda noma owesifazane.
I-Klinefelter syndrome yi-trisomy yama-chromsomes ocansi. Ngokujwayelekile (cishe amaphesenti angu-82 wesikhathi) kukhona i-chromosome eyengeziwe ye-X (isakhiwo se-XXY.)
Ngamaphesenti angu-10 kuya ku-15 wamadoda ane-Klinefelter's syndrome, nokho, kukhona iphethini yama-mosaic, lapho kunezinhlanganisela ezingaphezu kweyodwa zama-chromosome ocansi, njengama-46XY / 47XXY. (Kukhona nabantu abane- syndrome ye-mosaic .)
Okungajwayelekile okunye okuhlanganisiwe kwama-chromosomes ocansi njengo 48XXY noma 49XXXXY.
Nge-mosaic i-Klinefelter's syndrome, izimpawu nezimpawu zingase zibe nzima, kanti ezinye izinhlanganisela, ezifana ne-49XXXX ngokuvamile zibangele izimpawu ezijulile.
Ngaphezu kwe-Klinefelter's syndrome kanye ne-Down syndrome kunezinye izifo zesintu .
I-Causes Causes of Klinefelter's Syndrome - I-Nondisjunction kanye Nezingozi Ekuphenduleni Embryo
I-Klinefelter's syndrome ibangelwa isiphambeko esingahleliwe sezakhi zofuzo ezenzeka ngesikhathi sokwenziwa kweqanda noma isidoda, noma ngemuva kokukhulelwe.
Ngokuvamile, i-Klinefelter's syndrome yenzeka ngenxa yenqubo ebizwa ngokuthi i-nondisjunction eqanda noma i-sperm ngesikhathi se-meiosis.
I-Meiosis yinkqubo lapho izakhi zofuzo zanda khona futhi zihlukaniswe ukunikeza ikhophi yezinto ezifuywayo ngeqanda noma isidoda. Esikhathini esivumelwaneni, ukwaziswa kofuzo kuhlukaniswe ngendlela efanele. Isibonelo, lapho iseli lihlukanisa ukwakha amangqamuzana amabili (amaqanda) ngamunye ngekhophi eyodwa ye-X chromosome, inqubo yokuhlukanisa iyahamba ukuze ama-chromosome amabili afike eqanda elilodwa kanti elinye iqanda alitholi i-X chromosome.
(Isimo lapho kungabikho khona i-chromosome yobulili eqanda noma isidoda singabangela izimo ezifana ne-Turner syndrome, "i-monosomy" enamalungiselelo angu-45, i-XO.)
I-nondisjunction phakathi ne-meiosis eqanda noma i-sperm iyimbangela ejwayelekile kunazo zonke ze-Klinefelter's syndrome, kodwa isimo singase senzeke ngenxa yamaphutha ekuhlukaneni (ukuphindaphinda) kwe-zygote elandela ukukhulelwa.
Izingozi ZeKlinefelter's Syndrome
I-Klinefelter's syndrome ibonakala ivela njalo kaningi nangomdala osekhulile kanye noyise (oneminyaka engama-35 ubudala) Umama obeletha ngaphezu kweminyaka engama-40 unamathuba amabili kuya kathathu amathuba okuba nengane ene-Klinefelter's syndrome kunomama uneminyaka engu-30 ubudala lapho ezalwa. Okwamanje asiyazi noma yiziphi izici ezingozini ze-Klinefelter's syndrome eyenzeka ngenxa yamaphutha ekuhlukaneni ngemuva kokukhulelwa.
Kubalulekile ukuphawula futhi ukuthi ngenkathi iKlinefelter isifo se-genetic, ngokuvamile "asizuze njengefa" futhi "ayijabulisi emindenini." Esikhundleni salokho, kubangelwa ingozi engahleliwe ngesikhathi sokwenziwa kweqanda noma isidoda, noma ngokushesha ngemuva kokukhulelwa. Okungahle kwenzeke lapho isidoda esivela kumuntu onesifo sikaKlinefelter sika isetshenziselwa ukukhulelwa kwe-vitro (bheka ngezansi.)
Izimpawu zikaKlinefelter's Syndrome
Amadoda amaningi angaphila nge-X chromosome eyengeziwe futhi azibonele izimpawu. Eqinisweni, amadoda angase atholakale okokuqala lapho eseseminyakeni yawo-20, 30, noma ngaphezulu, lapho ukuphazamiseka kwengqondo kungatholakali isifo.
Kwabesilisa abanezibonakaliso nezimpawu, lezi zivame ukukhula ngesikhathi sokukhulelwa lapho ama-testes engaqhubeki njengoba kufanele. Izimpawu ze-Klinefelter's syndrome zingabandakanya:
- Amabele okukhuliswa ( gynecomastia .)
- Amagciwane amancane, aqinile.
- Ipenisi encane .
- Izinwele ezibucayi nezomzimba.
- Ukulinganisa umzimba okungavamile (ngokuvamile ukuthambekela kokuba nemilenze ende kanye nesiqu esifushane.)
- Ukukhubazeka ngokwengqondo - Ukukhubazeka kokufunda, ikakhulukazi ukukhathazeka ngokwemilimi kuvame kakhulu kunalabo abangenayo i-syndrome, nakuba ukuhlolwa kobuhlakani ngokuvamile kuvamile.
- Kunciphise libido.
- Ukungenzi lutho - Njengoba kuphawuliwe, amadoda amaningi awaqapheli ukuthi anamaKlinefelter kuze kube yilapho ezama ukuqala umndeni wawo, njengoba amadoda anesimo angakhiqizi isidoda futhi ngenxa yalokho ayinamandla. Izivivinyo ze-Genetic zizobonisa ukuthi kukhona i-chromosome eyengeziwe ye-X futhi iyindlela ephumelela kakhulu yokuthola ukuthi i-Klinefelter.
Ukuxilongwa kwe-Klinefelter's Syndrome
Ukuxilongwa kwe-Klinefelter's syndrome, njengoba kuphawuliwe ngenhla, kuvame ukwenziwa lapho umuntu eveza ukungabi nalutho futhi ukuntuleka kwesilisa kutholakala esibonelweni sowesilisa. Uhlolo lwe-karyotype lwamafuzo luzosetshenziselwa ukuqinisekisa ukuxilongwa.
Ekuhlolweni kwelebhu, izinga le-testosterone eliphansi livamile, futhi ngokuvamile lilinganiselwa ku-50 kuya ku-75% elingaphansi kwamadoda ngaphandle kwe-Klinefelter's syndrome. Khumbula ukuthi kunezimbangela eziningi zamazinga aphansi e-testosterone kumadoda ngaphezu kwe-Klinefelter's syndrome.
I-Gonadotropins, ikakhulukazi i-follicle evuselela i-hormone (i-FSH) ne-hormone yokuqondisa (LH) iphakanyisiwe, futhi amazinga e-plasma estradiol akhula (ngenxa yezizathu ezingaziwa.)
Izinketho zokwelashwa ze-Klinefelter's Syndrome
Ukwelashwa kwe-Androgen (izinhlobo ze-testosterone) kuyindlela ejwayelekile kakhulu yokwelashwa kwe-Klinefelter's syndrome futhi ingaba nemiphumela emihle emihle, kuhlanganise nokuthuthukisa ubulili, ukugqugquzela ukukhula kwezinwele, ukwandisa amandla omzimba wamandla kanye namandla wegazi, nokunciphisa amathuba okuba ne-osteoporosis. Ngenkathi ukwelashwa kungathuthukisa izimbonakaliso eziningana zezimpawu ze-syndrome, akuvame ukubuyisela ukuzala (bheka ngezansi.)
Ukwelashwa (ukunciphisa isisu) kungadingeka ukuze ukwandise ukondliwa kwebele (gynecomastia) futhi kungasiza kakhulu ekuboneni ngokomzwelo.
I-Klinefelter's Syndrome ne-Infertility
Amadoda ane-Klinefelter's syndrome ngokuvamile ayengenamandla, nakuba amanye amadoda ane-mosaic Klinefelter's syndrome angenakuzwa ukuthi angakwazi ukukhulelwa.
Ukusebenzisa izindlela ezishukumisayo, njenge-gonadotropic noma i-androgenic yokugqugquzela njengoba kwenziwa ngezinhlobo ezithile zokuhlukumeza owesilisa akusebenzi ngenxa yokuntuleka kwentuthuko ye-testes kubantu abesilisa abane-Klinefelter's syndrome.
Ukuzala kungase kwenzeke ngokukhishwa ngokuhlinzekwa isidoda kusuka ku-testes, bese usebenzisa i-vitro fertilization. Ngeshwa, kutholakale ukuthi ukusebenzisa i-IVF nge-sperm evela kubantu abane-Klinefelter's syndrome kungandisa ingozi yalokho okubizwa ngokuthi aneuploidy. Uma amadoda efisa ukucabanga ngalolu khetho, kufanele aqonde ngokugcwele ukuthi ukuhlaziywa kwe-genomics yesidakamizwa kungenziwa ngaphambi kokufakelwa.
Ukungafanisi kwamadoda ane-Klinefelter's syndrome kuvula ukukhathazeka ngokomzwelo, kokuziphatha, nokuziphatha emibhangqwaneni eyayingekho ngaphambi kokufika komanyolo we-in vitro. Ukukhuluma nomeluleki wezakhi zofuzo ukuze uqonde izingozi, kanye nezinketho zokuhlola ngaphambi kokumiswa, kubalulekile kunoma ubani ocabangela lezi zelashwa.
I-Klinefelter's Syndrome nezinye Izinkinga Zempilo
Amadoda ane-Klinefelter's syndrome avame ukuba nenani elingaphezu kwenani elijwayelekile lempilo engapheli kanye nokuphila okufishane kunamadoda abangenayo i-syndrome. Lokhu kusho, kubalulekile ukuqaphela ukuthi ukwelashwa okufana nokufaka esikhundleni se-testosterone kusetshenziswe ukuthi kungashintsha lezi "izibalo" esikhathini esizayo. Ezinye izimo ezivame kakhulu kumadoda ane-Klinefelter's syndrome zihlanganisa:
- Umdlavuza wesibeletho - Umdlavuza wesibeletho kumadoda ane-Klinefelter syndrome izikhathi eziphindwe izikhathi ezingu-20 ngaphezu kwamadoda ngaphandle kwe-Klinefelter syrome
- I-osteoporosis
- Izilonda ze-Germ cell
- Izibhamu
- Izimo ezizenzakalelayo njenge-systemic lupus erythematosis
- Isifo senhliziyo esiphumele
- I-Varicose veins
- I-thrombosis ejulile ye-vein
- Ukukhuluphala
- I-metabolic syndrome
- Thayipha isifo sikashukela sesi-2
I-Klinefelter's Syndrome - Isimo Esingahlosiwe
Kucatshangwa ukuthi i-Klinefelter's syndrome ayitholakali, ngesilinganiso sokuthi ngamaphesenti angu-25 kuphela amadoda ane-syndrome abathola ukuxilongwa (njengoba kuvame ukutholakala ngesikhathi sokuhlolwa kwengane.) Lokhu kungase kungabonakali kuyinkinga, kodwa amadoda amaningi ukubhekene nezibonakaliso zezimpawu zesimo kungaphathwa, kuthuthukiswe izinga labo lokuphila. Ukwenza ukuxilongwa kubalulekile futhi ngokuqondene nokuhlolwa nokuphathwa ngokucophelela kwezimo zezokwelapha lapho la madoda angena engozini enkulu.
Imithombo:
Calogero, A., Giaqulli, V., Mongioi, L. et al. I-Klinefelter Syndrome: Ukungahleleki Kwemisipha Nezinkinga ZeMetabolic. I-Journal ye-Endocrinological Investigation . 2017 Mashi 3. (Epub ngaphambi kokuphrinta).
Groth, K., Skakebaek, A., Host, C., Gravholt, C., no A. Bojesen. Ukubuyekezwa Kwemitholampilo: Klinefelter Syndrome - Ukubuyekezwa Kwemitholampilo. I-Journal of Clinical Endocrinology ne-Metabolism . 2013. 98 (1): 20-30.
Kasper, uDennis L .., u-Anthony S. Fauci, noStephen L .. Hauser. Izimiso zikaHarrison zeMithi yangaphakathi. ENew York: imfundo kaMc Graw Hill, 2015. Print.
UKliegman, uRobert M., uBonita Stanton, uSt Geme III uJoseph W., uNine Felice. Schor, uRichard E. Behrman, noWaldo E. Nelson. UNelson Bookbook of Pediatrics. I-20th Edition. Philadelphia, PA: Elsevier, 2015. Phrinta.
McEleny, K., Cheetham, T., no R. Quinton. Ingabe Kufanele Sinikele Ukulondolozwa Kokubeletha Nge-Sperm Yokuhlinzeka Ngokuthola Amadoda Nge-Klinefelter Syndrome? . I-Endocrinology yezokwelapha (Oxford) . 2017. 86 (4): 463-466.