Klinefelter's Syndrome - Chikhalidwe Chachibadwa Chokhudza Amuna
Matenda a Klinefelter ndi matenda omwe amakhudza amuna okha. Nazi zomwe muyenera kudziwa zokhudzana ndi zomwe zimayambitsa, zizindikiro komanso njira zomwe mungasankhire.
Kodi Klinefelter's Syndrome N'chiyani?
Matenda a Klinefelter ndi machitidwe olakwika omwe amakhudza amuna okha. Wina dzina lake Harry Klinefelter, yemwe anali dokotala wa ku America, dzina lake Harry Klinefelter, anabadwa m'chaka cha 1942 ndipo matenda ake a Klinefelter amakhudza pafupifupi mmodzi mwa amuna 500 amene anabadwa kumene.
Pakalipano, nthawi yeniyeni yofufuza ndi yomwe ili pakatikati pa zaka 30, ndipo zimaganiziridwa kuti pafupi ndi theka la amuna omwe ali ndi matenda amapezeka kale. Zizindikiro zowonjezereka za matenda a Klinefelter zimakhudzana ndi chitukuko cha kugonana ndi kubala, ngakhale kwa amuna pawokha, kuuma kwa zizindikiro kumasiyana mosiyanasiyana. Zikuoneka kuti chiŵerengero cha Klinefelter's syndrome chikuwonjezeka.
Genetics ya Klinefelter's Syndrome
Matenda a Klinefelter amadziwika kuti ndi amodzi mwachromosomes kapena majini omwe amapanga DNA yathu.
Kawirikawiri ife tiri ndi ma chromosomes 46, 23 kuchokera kwa amayi athu ndi 23 kuchokera kwa abambo athu. Mwa awa, 44 ali autosomes ndipo 2 ndi ma chromosomes a kugonana. Kugonana kwa munthu kumatsimikiziridwa ndi chromosomes X ndi Y ndi amuna omwe ali ndi X ndi Y y chromosome (XY dongosolo) ndi akazi ali ndi ma chromosome awiri (gawo la XX). Mwa amuna, chromosome Y imachokera kwa abambo ndipo mwina X kapena Y chromosome imachokera kwa mayi.
Kuyika izi palimodzi, 46, XX imatanthawuza kwa mkazi wa 46, XY amafotokoza mwamuna.
Matenda a Klinefelter ndi trisomy, ponena za vuto limene katatu, osati ma chromosomes a autosomal kapena ma chromosome ogonana alipo. M'malo mokhala ndi ma chromosomes 46, awo omwe ali ndi trisomy ali ndi ma chromosomes 47 (ngakhale pali zina zotheka ndi matenda a Klinefelter akufotokozedwa pansipa.)
Anthu ambiri amadziŵa bwino matenda a Down syndrome. Down syndrome ndi trisomy yomwe ili ndi ma chromosome atatu a 21. Ndondomekoyi idzakhala 47XY (+21) kapena 47 XX (+21) malinga ndi ngati mwanayo anali wamwamuna kapena wamkazi.
Matenda a Klinefelter ndi trisomy ya chromsomes ya kugonana. Kawirikawiri (pafupifupi 82 peresenti ya nthawi) pali X yambiri ya chromosome (dongosolo la XXY.)
Amuna 10 mpaka 15 peresenti ya amuna omwe ali ndi matenda a Klinefelter, komabe pali zithunzi zojambulajambula, zomwe zimagwiritsa ntchito ma chromosome opatsirana pogonana, monga 46XY / 47XXY. (Palinso anthu omwe ali ndi matenda osokoneza bongo .)
Zosagwirizanitsa ndi zina zogonana za chromosomes monga 48XXY kapena 49XXXXY.
Ndi matenda a Klinefelter a zithunzi, zizindikiro zikhoza kukhala zovuta, pamene kuphatikiza kwina, monga 49XXXY kumabweretsa zizindikiro zambiri.
Kuphatikizana ndi matenda a Klinefelter ndi matenda a Down pali zizindikiro zina zaumunthu .
Zotsatira Zachibadwa za Klinefelter's Syndrome - Nondisjunction ndi Accidents in Replication mu Embryo
Matenda a Klinefelter amayamba chifukwa cha mphulupulu zomwe zimapezeka panthawi yolenga dzira kapena umuna.
Kawirikawiri, matenda a Klinefelter amapezeka chifukwa cha ndondomeko yotchedwa nondjunjunction mu dzira kapena umuna pa nthawi ya meiosis.
Meiosis ndi njira yomwe mazira amachulukitsira ndikugawidwa kuti apereke ma genetic ku dzira kapena umuna. Pachilumikizo, ma genetic akusiyana molakwika. Mwachitsanzo, pamene selo limagawanika kupanga ma selo awiri (mazira) iliyonse ndi kopi imodzi ya X chromosome, njira yolekanitsa imawoneka kuti ma X chromosome awiri alowe mu dzira limodzi ndipo dzira lina silinalandire X chromosome.
(Mkhalidwe umene mulibe chromosome yokhudza kugonana mu dzira kapena umuna ungayambitse mikhalidwe monga Turner syndrome, "monosomy" yomwe ili ndi dongosolo 45, XO.)
Nondisjunction panthawi ya mazira kapena udzu ndi omwe amachititsa kuti matenda a Klinefelter awonongeke, koma vutoli likhoza kukhalanso chifukwa cha zolakwitsa za zygote zotsatira za umuna.
Zinthu Zowopsa kwa Klinefelter's Syndrome
Matenda a Klinefelter akuwonekera kuti amapezeka kawirikawiri ndi zaka zakubadwa komanso za abambo (oposa zaka 35.) Mayi amene amabereka zaka zoposa 40 amakhala ndi mwayi wambiri wokhala ndi mwana yemwe ali ndi matenda a Klinefelter kuposa mayi ali ndi zaka 30 atabadwa. Panopa sitidziwa za zifukwa zomwe zimayambitsa matenda a Klinefelter omwe amapezeka chifukwa cha zolakwika pamagawani pambuyo pa umuna.
Ndikofunika kuzindikira kuti ngakhale kuti Klinefelter ndi matenda a chibadwa, nthawi zambiri "satengera" ndipo "sichisangalatsa m'mabanja." M'malo mwake, zimayambitsidwa ndi ngozi yowopsa mwadzidzidzi pamene dzira kapena umuna umapangidwira, kapena patangopita nthawi yochepa mimba ikatha. Chimodzimodzinso chingakhale pamene umuna wochokera kwa munthu yemwe ali ndi matenda a Klinefelter amagwiritsidwa ntchito mu vitro fertilization (onani pansipa).
Zizindikiro za Klinefelter's Syndrome
Amuna ambiri amatha kukhala ndi X chromosome yowonjezera ndipo sadziwa zizindikiro. Ndipotu, anthu amapezeka kuti ali ndi zaka 20, 30, kapena zaka zambiri, pamene akudwala matenda osabereka amapeza matenda.
Kwa amuna omwe ali ndi zizindikiro, nthawi zambiri amayamba msinkhu pamene ma testes sakukula momwe ayenera. Zizindikiro za matenda a Klinefelter angaphatikizepo:
- Matenda owonjezera ( gynecomastia .)
- Magulu aang'ono, olimba.
- Small penis .
- Tsitsi lakuda ndi thupi.
- Matupi osapitirira thupi (kawirikawiri chizoloŵezi chokhala ndi miyendo yaitali ndi thunthu lalifupi.)
- Kulemala kwaumwini - Kulemala kuphunzira, makamaka vuto lachilankhulo ndilofala kwambiri kusiyana ndi omwe alibe matenda, ngakhale kuti mayesero a nzeru ndi achibadwa.
- Kuchepetsa libido.
- Kusadziletsa - Monga taonera, amuna ambiri sazindikira kuti ali ndi Klinefelter mpaka akuyesa kuyambitsa banja lawo, monga amuna omwe ali ndi vutoli samapanga umuna ndipo kotero alibe. Kuyeza kwa majeremusi kudzawonetsa kukhalapo kwa X chromosome yowonjezera ndipo ndiyo njira yabwino kwambiri yodziwira za Klinefelter.
Kuzindikira kwa Klinefelter's Syndrome
Matendawa a Klinefelter's syndrome, monga tawaonera pamwambapa, nthawi zambiri amapangidwa pamene munthu akudwala matenda osabereka ndipo alibe umuna amapezeka pachitsanzo cha umuna. Chiyeso cha karyotype chikhoza kugwiritsidwa ntchito kutsimikizira kuti matendawa ndi otani.
Pa mayeso a labu, mlingo wochepa wa testosterone ndi wamba, ndipo nthawi zambiri ndi 50 mpaka 75 peresenti yochepa kusiyana ndi amuna opanda matenda a Klinefelter. Kumbukirani kuti pali zifukwa zambiri zomwe zimayambitsa ma testosterone m'mimba mwa amuna kuphatikizapo matenda a Klinefelter.
Gonadotropins, makamaka ma folmone opatsa mphamvu (FSH) ndi luteinizing hormone (LH) ndi okwera, ndipo mafunde a plasma estradiol amawonjezeka (chifukwa cha zifukwa zosadziwika.)
Njira Zothandizira Klinefelter's Syndrome
Mankhwala a Androgen (mitundu ya testosterone) ndi njira yowonjezereka kwambiri ya matenda a Klinefelter ndipo angathe kukhala ndi zotsatira zabwino, kuphatikizapo kukonda kugonana, kulimbikitsa tsitsi, kukula kwa minofu ndi mphamvu zamagetsi, ndi kuchepetsa mwayi wodwala matenda odwala matendawa. Ngakhale mankhwala amatha kusintha zizindikiro zambiri za matenda, sizimabweretsa kubereka (onani pansipa).
Kuchita opaleshoni (kuchepa kwa m'mawere) kungafunikire kuwonjezereka kwa mawere (gynecomastia) ndipo kungakhale kothandiza kwambiri pamalingaliro.
Klinefelter's Syndrome ndi Infertility
Amuna omwe ali ndi matenda a Klinefelter nthawi zambiri amalephera, ngakhale kuti amuna ena omwe ali ndi matenda a Klinefelter mosavuta sangathe kukhala osabereka.
Kugwiritsa ntchito njira zolimbikitsa, monga gonadotropic kapena stimulative androgenic monga momwe zimachitikira mitundu ina ya kusabereka kwa mwamuna kumagwira ntchito chifukwa chosowa chitukuko cha mayesero mwa amuna omwe ali ndi matenda a Klinefelter.
Chiberekero chingatheke pochotsa opaleshoni kuchokera ku testes, ndikugwiritsa ntchito mu vitro fetereza. Mwamwayi, zapezeka kuti kugwiritsa ntchito IVF ndi umuna kuchokera kwa amuna omwe ali ndi matenda a Klinefelter akhoza kuonjezera chiopsezo chotchedwa aneuploidy. Ngati amuna akufuna kuganizira njirayi, ayenera kumvetsetsa bwino momwe kusanthula kwa majeremusi ya umuna kungatheke musanakhazikitsidwe.
Kusagwirizana kwa amuna omwe ali ndi matenda a Klinefelter kumatsegula maganizo, makhalidwe, ndi makhalidwe kwa anthu omwe salipo asanakhalepo mu vitro fertilization. Kulankhulana ndi jekeseni kuti muzindikire zoopsa, komanso njira zomwe mungayesere musanakhazikitsidwe, ndizofunika kwa aliyense woganizira mankhwalawa.
Klinefelter's Syndrome ndi Zovuta Zina Zamankhwala
Amuna omwe ali ndi matenda a Klinefelter amakonda kukhala ndi zambiri kuposa chiwerengero cha matenda osapitirira ndi moyo wautali kuposa amuna omwe alibe matenda. Izi ndizofunika kuzindikira kuti mankhwala monga testosterone m'malo omwe akuphunziridwa omwe angasinthe "ziwerengero" izi mtsogolomu. Zina zomwe zimakhala zofala kwambiri kwa amuna omwe ali ndi matenda a Klinefelter ndi awa:
- Khansara ya m'mimba - Khansara ya m'mimba mwa amuna omwe ali ndi matenda a Klinefelter nthawi zambiri kuposa anthu omwe alibe Klinefelter Synonyme
- Osteoporosis
- Zilonda zajeremusi
- Sitiroko
- Sungani zinthu monga systemic lupus erythematosis
- Matenda a mtima wamba
- Mitsempha ya Varicose
- Pansi pa mitsempha ya thrombosis
- Kunenepa kwambiri
- Matenda a zamadzimadzi
- Mtundu wa shuga 2
Klinefelter's Syndrome - Chidziwitso Chake
Zimaganiziridwa kuti matenda a Klinefelter sadziŵikiratu, poyerekezera kuti ndi 25 peresenti ya amuna omwe ali ndi matenda omwe amatha kupeza matenda (popeza amapezeka kawirikawiri panthawi yofufuza). Izi poyamba sizingakhale zovuta, koma amuna ambiri omwe ali kuvutika ndi zizindikilo za matendawa, kupititsa patsogolo umoyo wawo. Kupanga matenda ndikofunikira komanso poyang'anira kusamala komanso kusamalira mosamala zaumoyo omwe amunawa ali nawo pangozi.
Zotsatira:
Calogero, A., Giaqulli, V., Mongioi, L. et al. Klinefelter Syndrome: Matenda a mtima ndi Matenda a Zamadzimadzi. Journal of Investigation Endocrinological . 2017 Mar 3. (Epub patsogolo pa kusindikiza).
Groth, K., Skakebaek, A., Wokhala, C., Gravholt, C., ndi A. Bojesen. Kupititsa kuchipatala: klinefelter syndrome The Journal of Clinical Endocrinology ndi Metabolism . 2013. 98 (1): 20-30.
Kasper, Dennis L .., Anthony S. Fauci, ndi Stephen L .. Hauser. Mfundo za Harrison za Mankhwala a M'kati. New York: maphunziro a Mc Graw Hill, 2015. Print.
Kliegman, Robert M., Bonita Stanton, St Geme III Joseph W., Nina Felice. Schor, Richard E. Behrman, ndi Waldo E. Nelson. Nelson Buku Lophunzitsa za Ana. Kusindikiza kwa 20. Philadelphia, PA: Elsevier, 2015. Print.
McEleny, K., Cheetham, T., ndi R. Quinton. Kodi Tiyenera Kupereka Kutetezedwa Kwachiberekero Ndi Kuperekera Kwachangu Kubwezeretsa Amuna ndi Klinefelter Syndrome? . Clinical Endocrinology (Oxford) . 2017. 86 (4): 463-466.