Zambiri zowonongeka zimatha kupezeka pa nthawi yopuma kapena pakangotha kubadwa. Matendawa, omwe amafotokozedwa ndi Harry Klinefelter ndi Fuller Albright, ndi osiyana. Matendawa nthawi zambiri amapezeka mosavuta kwa zaka zambiri.
Matenda a Klinefelter - ndi chiyani?
Zogonana za mwanayo zimatsimikiziridwa ndi kuphatikiza kwa chromosome ya kugonana. Mu mavuni ndi amtundu umodzi - X, wamkazi. Spermatozoa imatha kunyamula ma chromosomes ofanana, ndi azimuna - Y. Ngati dzira limatulutsidwa ndi gamete X, timapeza gawo la XX, ndipo mtsikana adzabadwa. Pamene spermatozoon ndi mthendayi imakhala yofulumira kwambiri, gulu la XY limakhazikitsidwa, ndipo banja limayembekezera mwanayo.
Nthaŵi zina, X kapena Y chromosome imakopedwa (mpaka katatu) ndipo zolembedwerazo zimagwiritsidwa ntchito kwa kugonana. Njira yowonjezera yowonjezereka ndi XXY - Klinefelter syndrome yomwe ilipoyi imapezeka mwa anyamata ambiri kuposa mitundu ina. Kusintha kwachidziwitso kumapangidwira kwa ana okha amuna, atsikana omwe amapereka ziwalo sali odwala.
Karyotype, khalidwe la matenda a Klinefelter
Munthu aliyense ali ndi ma chromosomes, omwe ali ndi awiri awiri. Amatchedwa karyotype. Gawo lomaliza (23) liri ndi udindo wa kubereka ndi makhalidwe ogonana. Kwa wodwala ndi matenda a Klinefelter, karyotype ndi chikhalidwe ndi zotsatirazi:
- XXY;
- XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY.
Maphunziro a matendawa ndi kuuma kwa zizindikiro zake zimadalira chiwerengero cha zinthu zopanda pake muwiri. Matenda a Klinefelter omwe ali ndi karyotypes, kuphatikizapo 49 chromosomes, amavomereza kuti ndi mtundu waukulu kwambiri wa kusintha. Komabe palinso mtundu wa maonekedwe ovuta, pamene maselo ena ali ndi chibadwa chachibadwa (46, XY), ndipo ochepa chabe awonongeka (47, XXY). Muzochitika zoterezi, matendawa amatsatidwa ndi zizindikiro zofooka ndipo amatha mosavuta kuposa mitundu ina ya matendawa.
Maulendo a matenda a Klinefelter
Zowonongeka zomwe zafotokozedwa si zachilendo, zimapezeka kuti ndizophatikizapo chiwerengero cha amuna mu 0.2% ya milandu. Matenda a Klinefelter amapezeka mwa mnyamata mmodzi pakati pa ana 500 odwala. Chifukwa cha kuchedwa kwa matendawa, matendawa sali ofala kwambiri a zamoyo, koma amodzi ndi omwe amachititsa kuti anthu asagwirizane ndi matendawa.
Matenda a Klinefelter - zomwe zimayambitsa
Sitikukhazikitsidwa, chifukwa chiyani anyamata ena ali ndi chromosome yowonjezera muzogonana. Pali ziphunzitso zokhazo zomwe zingayambitse matenda a Klinefelter - zomwe zimayambitsa zovuta:
- matendawa;
- kumayambiriro kapena kutenga mimba ;
- mgwirizano wa magazi pakati pa bambo ndi mayi;
- zovuta zamoyo.
Matenda a Klinefelter sakhala nawo. Kukhalapo kwa amodzi kapena ma chromosomes amodzi muzochitika zambiri zimayambitsa kusabereka mukhwima. Wodwala ali ndi matendawa sangathe kulandira cholowa chofanana ndi chibadwa chosinthika. Chromosome yowonjezera ikhoza kukhala ndi abambo komanso amayi, koma mwa amayi amapezeka nthawi zambiri (67%).
Matenda a Klinefelter - zizindikiro
Matendawa sadziwonetsera okha pa nthawi ya chitukuko cha intrauterine komanso ali wamng'ono. Matenda a Klinefelter m'mimba mwachindunji sangathe kudziwika, mwanayo ali ndi thupi labwino (kutalika, kulemera, mutu wachizungu) komanso kupanga mazira oyenera. Zizindikiro zoyamba za matenda ndizochitika zaka 5 mpaka 8, koma zimakhala zovuta kwambiri kuzindikira ndi kugwirizana ndi gene mutation:
- kudwala matenda opatsirana ndi tizilombo;
- kuchepa pang'ono mu kuyendetsa galimoto ndi kulankhula;
- miyendo yaitali (poyerekeza ndi thunthu);
- chiuno chapamwamba;
- kusintha kwakukulu ndi kawirikawiri kumasintha;
- kutopa;
- Kukumana ndi kusamvetsetsa ndi kusayanjanitsika;
- Chizoloŵezi cha khalidwe losakonda anthu.
Pamene mukukula, matenda a Klinefelter amathandizanso - zizindikiro zimakhala zowonjezereka panthaŵi ya kutha msinkhu:
- Mapewa ang'onoang'ono ali ofanana ndi chiuno chachikulu ndi minofu yopanda chitukuko;
- kunenepa kwambiri;
- Kukula kokwanira tsitsi kumaso ndi thupi;
- kukula kwakukulu poyerekeza ndi anzanga;
- Kukulitsa kwa mapira a mammary (gynecomastia);
- chotsitsa libido ;
- kukula kwa ubweya wa pubic;
- mitsempha yaing'ono ndi mbolo (nthawizina).
Zinthu zowonjezereka kwambiri mu karyotype, matenda a Klinefelter owonetsa kwambiri. Mu anyamata omwe ali ndi ma chromosomes awiri omwe ali awiri muwiri awiri pali zizindikiro zina:
- matenda opatsirana;
- chotsitsa cha chifuwa;
- acrocyanosis;
- bongo;
- zofooka za mtima zakufa ;
- kuluma kolakwika;
- astigmatism;
- ptosis ya maso;
- mphukira ;
- nyamakazi;
- thukuta lamphamvu la mapazi ndi kanjedza;
- kuchepetsa nzeru;
- mikhalidwe yaumunthu;
- pansi;
- chisokonezo cha auricles;
- khalidwe laukali;
- mphuno yayikulu ndi yopanda phokoso ndi nsonga yosinthidwa;
- mkamwa waukulu;
- maso osiyana kwambiri;
- kukhalapo kwa ziphuphu zoopsa;
- kumutu ndi kupweteka kwa matenda oopsa;
- khunyu ;
- cholelithiasis;
- shuga;
- schizophrenia;
- kusowa;
- kusowa;
- mitsempha ya varicose;
- kuledzeretsa, uchidakwa, kugonana amuna kapena akazi okhaokha.
Klinefelter's syndrome - njira zogwiritsira ntchito
Kafukufuku wamasitepe awiri amathandiza kuzindikira matenda omwe akugwiritsidwa ntchito panthawi yomwe mwana akukula msinkhu. Zigawo zonsezi ndi zofunika ngati matenda a Klinefelter akudandaula - matendawa akuyenera kuphatikizapo njira zosokoneza komanso zosagonjetsa. Kawirikawiri, matendawa sakhala akudziwika asanafike msinkhu, choncho amapezeka kale ali mwana kapena wamkulu.
Klinefelter's syndrome - matenda opatsirana pogonana
Gawo loyamba la phunziroli likuphatikizapo kusanthula magazi amagazi a mayi wamtsogolo, amene ali pa sabata la 11-13 lakumanga. Ngati chorionic gonadotropin ndi mapuloteni a plasma A alipo m'thupi, mayiyo ali m'gulu la amayi apakati omwe ali ndi chiopsezo chokhala ndi mwana wodwala. Pakapita nthawi, amniotic minofu kapena madzi amafufuzidwa (njira zovuta zogonana):
- amniocentesis ;
- biopsy;
- cordocentesis.
Njira zoterezi zimalola, molondola 99.8%, kutsutsa kapena kutsimikizira za Klinefelter's syndrome - fomu ya mafilimu yomwe imayenda mobisa, imatsimikiziranso ndi njira zomwe zatchulidwa. Maphunziro ovuta amachokera ku kutanthauzira mwatsatanetsatane ka karyotype ya maselo kuchokera ku zitsanzo zomwe zimapezeka, choncho ndi odalirika komanso odalirika ngati n'zotheka.
Matenda a Klinefelter - mayesero
Kudwala matenda opatsirana pogonana kumaphatikizapo kuikidwa kwa katswiri wa sayansi ya zamoyo, katswiri wamaphunziro otchedwa endocrinologist kapena a andrologist. Matenda a Klinefelter amathandiza kuzindikira njira zotsatirazi:
- Msuzi wochokera mu ntchentche ya pakamwa;
- kuyesa magazi (biochemical, hormonal);
- Ultrasound ya scrotum;
- chodabwitsa;
- kuphunzira zojambula zala;
- karyotyping.
Mmene mungachitire matenda a Klinefelter?
Kuchotseratu kwathunthu mchitidwe wosalidwa wa jini sizingatheke, motero chithandizochi chikulinga kuchepetsa mawonetseredwe ake. Anthu ayenera kuyima nthawi zonse matenda a Klinefelter - mankhwalawa amafunikanso kugwiritsa ntchito mahomoni amtundu wamwamuna wonse, kuyambira nthawi ya kutha msinkhu (zaka 11-12). Zovomerezeka zamkati kapena tesakiloni za testosterone zimalimbikitsa chikhalidwe cha kukula kwa njira yoberekera ndi ntchito yake.
Njira zowonjezera zothandizira matenda a Klinefelter ndizofunika kuti athetse mavuto omwe akukumana nawo omwe amachititsa matendawa. Izi zikuphatikizapo:
- kuumitsa;
- kupewera matenda;
- maphunziro;
- wolangizira uphungu ndi wolankhula mawu;
- kukhazikika kwa kulemera;
- mastectomy (ngati kuli kofunikira);
- kumamatira ku zakudya zabwino.
Matenda a Klinefelter - akulosera
Matendawa sali opha, ndi mankhwala oyenera panthawi yake, okwanira mavutowa ndi ochepa. Chithandizo choyenera chimawathandiza kwambiri ngati matenda a Klinefelter apezeka - chiyembekezero cha moyo wa amuna omwe ali ndi vutoli ndi ofanana ndi anthu abwinobwino. Pogwiritsa ntchito njira zowonjezereka za mankhwala, odwala amasinthidwa bwino ndi anthu ndipo amatha kugwira ntchito bwinobwino. Ana omwe ali ndi matenda a Klinefelter angathe kukhala ngati anzanu abwino, chinthu choyamba ndi kuyamba kugwiritsa ntchito testosterone nthawi.
Zomwe zachitika posachedwa m'munda wa mankhwala opatsirana zimathandiza kuthana ngakhale vuto la kusabereka. Njira ya mu vitro feteleza pogwiritsira ntchito ICSI njira (intracytoplasmic jekeseni wa umuna) yayesedwa kale kwa odwala omwe ali ndi matenda omwe akufotokozedwa. Zotsatira zowonetsera ndi zabwino - ana obadwa bwino ali obadwa.
Matenda a Klinefelter - kupewa
Chifukwa cha kuchepa kwa deta yolondola pa zomwe zimayambitsa kusinthika kwa chibadwa, palibenso njira zothetsera vutoli. Matenda a Harry Klinefelter sangathe kulephereka pa siteji ya kukonza mimba. Njira yokha yofunikira ndi matenda opatsirana pogonana. Ngati mwana akupezeka ndi matendawa, ndikofunika kuteteza mavuto. Njira yothandizira matenda a Klinefelter ndi mahomoni omwe muyenera kugwiritsa ntchito nthawi zonse.