Mawuyacin Klinefelter - Yanayin Halittar Yanayin Halitta Mata
Klinefelter ta ciwo shi ne yanayin kwayoyin da ke shafar maza kawai. Ga abin da ya kamata ka sani game da haddasawa, bayyanar cututtuka da zaɓuɓɓukan magani don yanayin.
Menene Klinefelter ta Ciwo?
Klinefelter ta ciwo shi ne ƙwayar cuta wadda ta shafi maza kawai. An kira shi bayan likitancin Amurka Harry Klinefelter a 1942, ciwo na Klinefelter yana shafar kusan daya daga cikin yara 500, yana sanya shi mummunan kwayar halitta.
A halin yanzu, yawan lokaci na ganewar asali yana cikin tsakiyar 30s, kuma an yi tunanin cewa kawai a cikin kashi na hudu na maza da ke fama da ciwo an gano su ne bisa hukuma. Hanyoyin da aka fi sani da cutar ta Klinefelter sun haɗu da ci gaban jima'i da haihuwa, duk da yake ga mutum ɗaya, yawancin bayyanar cututtuka na iya bambanta. An yi tunanin cewa rashin lafiyar Klinefelter ya karu.
A Genetics na Klinefelter ta ciwo
Klinefelter na ciwo yana nuna mummunan abu ne a cikin chromosomes ko kwayoyin halitta wadanda suka hada da DNA.
Kullum muna da nakasa 45, 23 daga iyayenmu da 23 daga ubanmu. Daga cikin waɗannan, 44 suna autosomes kuma 2 suna jima'i chromosomes. Jima'i na da X da Y da maza tare da maza da X da kuma Y yuƙasa (XY tsari) da mata da ke da X chromosomes (tsari na XX). A cikin maza, yuwar Y ta fito ne daga mahaifinsa kuma ko dai X ko Y yashi daga mahaifiyarsa.
Sanya wannan tare, 46, XX yana nufin mace mai shekaru 46, XY ya bayyana namiji.
Sashin ciwon Klinefelter yana da yanayin rashin lafiya, yana nufin yanayin da uku, maimakon guda biyu daga cikin chromosomes autosomal ko jima'i chromosomes sun kasance. Maimakon samun ciwon chromosomesko 46, waɗanda suke da ƙwayar cuta suna da ƙwayoyin chromosomes (47) (duk da cewa akwai wasu abubuwan da za a iya yi tare da ciwo na Klinefelter da aka tattauna a kasa.)
Mutane da yawa sun san Down syndrome. Down syndrome ne trisomy wanda akwai uku da 21st chromosomes. Tsarin zai zama 47XY (+21) ko 47 XX (+21) dangane da ko yaro ne namiji ko mace.
Sashin ciwon Klinefelter shi ne ƙwayar cuta na jima'i chromsomes. Yawancin lokaci (kimanin kashi 82 cikin dari) yana da karin X-chromosome (wani zane na XXY).
A cikin kashi 10 zuwa 15 cikin dari na mutanen da ke fama da ciwo na Klinefelter, duk da haka, akwai nau'i na mosaic, wanda fiye da ɗaya haɗuwa da jima'i chromosomes sun kasance, kamar 46XY / 47XXY. (Akwai kuma mutanen da ke fama da rashin ciwo .)
Kasa da yawa sune sauran halayen jima'i na chromosomes kamar 48XXXY ko 49XXXXY.
Tare da mosaic Klinefelter ta ciwo, alamu da bayyanar cututtuka na iya zama muni, yayin da sauran haɗuwa, irin su 49XXXXY yakan haifar da bayyanar cututtuka.
Bugu da ƙari da ciwo na Klinefelter da Down syndrome akwai wasu ƙwayoyin mutum .
Kwayoyin Halitta na Ciwo na Klinefelter - Nondisjunction da Accidents a Replication a cikin Embryo
Klinefelter na ciwo yana haifar da kuskuren kwayoyin da ke faruwa a lokacin kafawar kwai ko maniyyi, ko bayan zane.
Yawancin lokaci, ciwo na Klinefelter yana faruwa ne saboda tsarin da ake kira nondisjunction a cikin kwai ko sperm a lokacin daji.
Meiosis shi ne tsari wanda aka tattara kwayoyin halitta sannan a raba su don samar da kwafin kwayoyin halitta zuwa kwai ko sperm. A cikin nondisjunction, abin da kwayoyin halitta ke da shi ba daidai ba ne. Alal misali, lokacin da tantanin halitta ya rarraba don ƙirƙirar kwayoyin halitta guda biyu (qwai) kowannensu tare da kwafin X-chromosome, tsari na rabuwa yana zuwa askew wanda ya sa kwatsam biyu na X sun zo cikin kwai ɗaya kuma ɗayan ba ya karbi X chromosome.
(Yanayin da babu wani jima'i a cikin kwai ko sashin kwayar cutar zai iya haifar da yanayin irin su ciwon Turner, wani "tsarin jiki" wanda ke da tsari 45, XO.)
Nondisjunction a lokacin jaka a cikin kwai ko maniyyi shine mafi mahimmanci na ciwo na Klinefelter, amma yanayin zai iya faruwa ne saboda kurakurai a cikin rarraba (gurbin) zygote bayan hadi.
Dalili na Dalili don Klinefelter ta Ciwo
Klinefelter ta ciwo ya fara faruwa sau da yawa tare da tsofaffi na tsofaffi da na tsofaffi (fiye da shekaru 35). Mahaifiyar da ta haifi haihuwar shekaru 40 yana da sau biyu zuwa sau uku yana iya samun jariri tare da cutar ta Klinefelter fiye da mahaifiyarsa yana da shekaru 30 a haihuwa. A halin yanzu ba mu sani ba game da duk wani haɗari ga ƙwayar cutar Klinefelter wanda ya faru saboda kuskuren rabuwa bayan hadi.
Yana da mahimmanci a sake lura da cewa yayin da Klinefelter ta kasance ciwon kwayar cutar, ba a "yawanci" ba saboda haka ba "jin daɗin cikin iyalansu". Maimakon haka, ana haifar da hatsarin bala'i lokacin da aka samu kwai ko sperm, ko kuma bayan jim kadan bayan ganewa ya faru. Wani banda zai iya zama lokacin da kwayar cutar daga mutum da cutar ta Klinefelter ta yi amfani dashi don hadewar in vitro (duba ƙasa.)
Bayyanar cututtuka na Klinefelter ta ciwo
Mutane da yawa zasu iya zama tare da karin X-chromosome kuma ba su da wata alama. A gaskiya ma, mutum na iya bincikar da su idan sun kasance a cikin shekaru 20s, 30s, ko tsufa, lokacin da aikin rashin haihuwa ya gano cutar.
Ga mutanen da ke da alamu da bayyanar cututtuka, waɗannan sukan ci gaba a lokacin balaga lokacin da gwajin ba su bunkasa yadda ya kamata. Alamar da alamun bayyanar cututtuka na Klinefelter na iya haɗawa da:
- Girma masu girma ( gynecomastia .)
- Ƙananan gwaji.
- Ƙananan azzakari .
- Farsin fuska da jiki.
- Abubuwa mara kyau na jiki (yawanci al'amuran da za su kasance da kafafu da ƙafafu da gajere.)
- Tashin hankali na ilimi - Ƙwarewar ilmantarwa, musamman ma abubuwan da ke damuwa da harshe sun fi na kowa ba tare da marasa lafiya ba, kodayake gwaje-gwaje na yau da kullum al'ada.
- Rage libido.
- Rashin rashin amfani - Kamar yadda aka lura, mutane da yawa basu gane cewa suna da Klinefelter ba har sai suna ƙoƙari su fara iyali na kansu, kamar yadda maza da yanayin ba su samar da kwayar cutar ba don haka ba su da haihuwa. Kwanan gwajin kwayoyin za su nuna kasancewar wani samfurin X kuma shine hanya mafi inganci don tantance Klinefelter's.
Sanin asali na Klinefelter ta Ciwo
Sakamakon ganewar cutar ta Klinefelter, kamar yadda aka gani a sama, ana yin sau da yawa lokacin da mutum ya gabatar da rashin haihuwa da kuma rashin maniyyi a samfurin sperm. Za a iya amfani da gwajin karyotype kwayoyin don tabbatar da ganewar asali.
A gwajin gwaje-gwaje, matakin low testosterone na kowa ne, kuma yawanci kashi 50 zuwa 75 cikin dari ba tare da maza ba tare da ciwo na Klinefelter. Ka tuna cewa akwai matsala masu yawa na matakan testosterone marasa ƙarfi a cikin maza baya ga ciwo na Klinefelter.
Gonadotropins, musamman nau'in hormone mai tasowa (FSH) da kuma hormone na Luteinizing (LH) sune karuwa, kuma matakan plasma estradiol sukan karu (saboda dalilan da ba a sani ba).
Jiyya Zɓk. Don Klinefelter ta ciwo
Hanyoyin maganin daji (nau'o'in testosterone) shine mafi mahimmanci na magani don ciwo na Klinefelter kuma zai iya samun sakamako mai yawa, ciki har da inganta rayuwar jima'i, inganta karfin gashi, kara ƙarfin tsoka da makamashi, da kuma rage yiwuwar osteoporosis. Duk da yake magani zai iya inganta yawancin alamomi da alamun cututtuka na ciwo, ba yakan mayar da haihuwa (duba a kasa).
Za'a iya buƙatar hawan (ƙinƙarar nono) don ƙwarewar ƙwararriya (gynecomastia) kuma zai iya taimakawa sosai daga yanayin tunani.
Klinefelter ta ciwo da rashin amfani
Mutanen da ke fama da cutar ta Klinefelter sun fi sau da yawa maras haihuwa, ko da yake wasu mutanen da ke fama da ciwo na Klinefelter ba su da wataƙila su fuskanci rashin haihuwa.
Yin amfani da hanyoyin da zafin jiki, irin su gonadotropic ko stimulation na asrogen kamar yadda ake aikatawa ga wasu nau'i na namiji baiyi aiki ba saboda rashin ci gaba da gwaji a cikin maza tare da cutar ta Klinefelter.
Ana iya yiwuwa a yi amfani da ƙwayar haihuwa ta hanyar cirewar kwayar cutar daga gwaji, sa'an nan kuma yin amfani da hadewar in vitro. Abin takaici, an gano cewa amfani da IVF tare da jini daga mutane tare da ciwo na Klinefelter na iya ƙara haɗarin abin da ake kira aneuploidy. Idan mutane suna so su yi la'akari da wannan zaɓin, ya kamata su fahimci yadda za a iya yin nazari game da yanayin kwayar halitta kafin a gina shi.
Rashin rashin samuwa a cikin maza da cutar ta Klinefelter ya buɗe damuwa da tunani, dabi'a, da kuma halin kirki ga ma'aurata waɗanda ba su kasance ba kafin zuwan in vitro hadi. Tattaunawa da shawara mai ba da shawara don ka fahimci haɗari, da kuma zaɓin da za a gwada kafin shigarwa, yana da mahimmanci ga duk wanda yake la'akari da waɗannan jiyya.
Bayanin Klinefelter da sauran Sanarwar Lafiya
Mutanen da ke fama da ciwo na Klinefelter sun kasance sun fi yawan adadin yanayin lafiya da kwanciyar hankali da kuma raunin rai fiye da maza waɗanda basu da ciwo. Wannan ya ce, yana da mahimmanci a lura cewa anyi nazarin magani kamar su maye gurbin testosterone wanda zai canza waɗannan "kididdiga" a nan gaba. Wasu sharuɗɗan da suka fi dacewa a cikin maza da cutar ta Klinefelter sun hada da:
- Ciwon daji na ciwon daji - Ciwon daji a cikin maza da cutar Klinefelter yana da sau 20 more fiye da maza ba tare da Klinefelter synrome
- Osteoporosis
- Ciwon kwayar cutar Germ
- Cirewa
- Yanayi na kwaskwarima irin su lupus erythematosis
- Ciwo mai cututtuka
- Varinose veins
- Deep vein thrombosis
- Kiba
- Ciwon maganin ƙwayar cuta
- Rubutun ciwon sukari na 2
Klinfelter ta ciwo - An Underdiagnosed Yanayin
Ana tsammanin cewa cutar rashin lafiyar Klinefelter ta zama wanda aka dauka, tare da kimanin cewa kashi 25 cikin dari ne kawai na maza da ciwo da samun karuwar asali (tun lokacin da aka gano shi a yayin bincike na jariri.) Wannan na farko ba zai zama matsala ba, amma mutane da yawa waɗanda suke Ana fama da wahalar da alamun yanayin da za'a iya bi da su, inganta yanayin rayuwarsu. Samar da ganewar asali yana da mahimmanci kuma game da nunawa da kuma kula da yanayin kiwon lafiya wanda waɗannan mutane ke fuskantar haɗari.
Sources:
Calogero, A., Giaqulli, V., Mongioi, L. et al. Klinefelter Syndrome: Cutar cutar ta jiki da cututtuka na rayuwa. Jaridar binciken Bincike na Endocrinological . 2017 Mar 3. (Epub gaba da bugu).
Groth, K., Skakebaek, A., Mai watsa shiri, C., Gravholt, C., da kuma A. Bojesen. Binciken Clinical: Klinefelter Syndrome - A Clinical Update. Jaridar Clinical Endocrinology da Metabolism . 2013. 98 (1): 20-30.
Kasper, Dennis L .., Anthony S. Fauci, da Stephen L .. Hauser. Ka'idodin Magungunan Hoto na Harrison. New York: Ilimin Mc Graw Hill, 2015. Print.
Kliegman, Robert M., Bonita Stanton, St Geme III Joseph W., Nina Felice. Schor, Richard E. Behrman, da Waldo E. Nelson. Nelson Littafin rubutu na Pediatrics. 20th Edition. Philadelphia, PA: Elsevier, 2015. Print.
McEleny, K., Cheetham, T., da R. Quinton. Ya kamata mu kasance mai ba da izinin haihuwa ta hanyar ƙwayar cutar ta jiki tare da Klinefelter ciwo? . Clinical Endocrinology (Oxford) . 2017. 86 (4): 463-466.