Klinefelter's syndrome - chii chatinofanira kutarisira kuvabereki vevakomana?

Zvizhinji zvemafuro zvakasiyana-siyana zvinogona kuongororwa panguva yekukura kwepiruterine kana pakarepo mushure mokuberekwa. Chirwere, chakatanga kurondedzerwa naHarry Klinefelter uye Fuller Albright, chakasiyana. Ichi chirwere chinowanzowanzosvika zvisinganzwisisiki kwemakumi emakore.

Klinefelter's syndrome - chii ichocho?

Kuita zvepabonde kwomwana kunotsanangurwa nekubatana kwekromosomes zvepabonde. Mune mavhiri ivo vanongova mhando imwechete-X, vakadzi. Spermatozoa inogona kutakura ma chromosomes akafanana, uye varume - Y. Kana mazai akabatwa neGetete X, tinowana chikamu che XX, uye musikana achazvarwa. Apo spermatozoon neine geni rinosvika pakukurumidza, iyo XY yakagadzirwa inoumbwa, uye mhuri inotarisira mukomana.

Mune zvimwe zviitiko, iyo X kana Y chromosome inonyorwa (kusvika kusvika katatu) uye zvinyorwa zvayo zvakabatanidzwa kune zvepabonde. Kusiyana kwakasiyana-siyana kwekusanganiswa ndeku XXY - Klinefelter syndrome yakagadziriswa inowanika kune vakomana kakawanda kupfuura mamwe marudzi. Iko kunofungidzirwa kwechimiro kwakagadzirwa nevana chete murume, vasikana vakapa hutachiona havarwere.

Karyotype, unhu hweKlinefelter's syndrome

Munhu mumwe nomumwe ane munhu akazvigadzirwa nemakromosomes, anosanganisira 23 maviri. Inonzi karyotype. Vokupedzisira vaviri (23) ndivo vane basa rekubereka nekuita zvepabonde. Kune murwere ane klinefelter's syndrome, karyotype inofanirwa nematafura anotevera:

• XXY;
• XYY;
• XXXY;
• XYYY;
• XXYY;
• XXXXY;
• XXXYY.

Chikamu chechirwere uye kuoma kwezviratidzo zvaro kunomirira nhamba yezvinhu zvisingasviki muzvikamu zviviri. Klinefelter's syndrome ine karyotypes, kusanganisira 49 ma chromosomes, inonzi ndiyo inonyanya kuchinja mutsika. Kunyange zvakadaro pane mhando yemasikisi yemasaly, apo mamwe masero ane chirwere chemajini (46, XY), uye zvishoma chete zvaro zvakakuvadzwa (47, XXY). Mumamiriro ezvinhu akadaro, hutachiona hunofambidzana nezviratidzo zvisingaiti uye zvinowedzera nyore kupfuura dzimwe mhando dzechirwere.

Kakawanda kaKlinefelter syndrome

Iyo inorondedzerwa kuputsa haisi isiri, inowanikwa mune yevarume vevanhu mu 0.2% yemhosva. Klinefelter syndrome inowanikwa mune mumwe mukomana pakati pevana 500 vane utano. Zvichipa kuonekwa kwekupedzisira kwehutachiona, chirwere ichi hachisi chete chinowanzoshandiswa pakuchinja kwema genetic, asiwo chimwe chezvinowanzoitika pakupedzisira kwechirwere chevanhu mumashure.

Klinefelter's syndrome - zvinokonzera

Izvo zvisati zvasimbiswa, nei vamwe vakomana vane chromosome yakawedzerwa mune zvepabonde. Pane mhedziso chete, iyo inogona kukonzera Klinefelter's syndrome - zvikonzero izvo zvinonzi zvinokonzera analyaly:

• utachiona hwehutachiona;
• kumangwanani kana kutora pamuviri ;
• ukama hweropa pakati pebaba naamai;
• zvinopesana nezvisikwa.

Klinefelter's syndrome haisi nhaka. Kuvapo kwechimwechete kana kupfuura ma chromosomes mune zvepabonde mumamiriro ezvinhu akawanda kunokonzera kusununguka mukukura. Murwere ane chirwere ichi haakwanisi kuva vagari venhaka pamwe chete nemafanana ekuchinja. Kuwedzerwa kromosome kunogona kuva nebaba nemukadzi kubva mumwana, asi kune vakadzi vanowanikwa kakawanda (67% yezviitiko).

Klinefelter's syndrome - zviratidzo

Chirwere ichi hachizviratidzi pachedu munguva yekugadzira intrauterine uye pazera remakore. Klinefelter syndrome muzvizvarwa zvitsva haigone kuonekwa, mwana anenge ane chimiro chechimiro chepamusoro (kureba, kuyerwa, musoro wakatarisa) uye zvakanyatsogadzirirwa maitiro ekudzivirira. Izvozvo zviratidzo zvekutanga zvehutano zvinowanikwa kubva pamakore mashanu kusvika kune makumi mapfumbamwe, asi zvakanyanya kuoma kuona nekubatana nejen mutation:

• kunokonzerwa nehutachiwana hwehutachiona uye hwebhakitiriya;
• zvishoma zvakakonzerwa mumotokari nekusimudzirwa kwekutaura;
• makumbo marefu (mukuenzanisa nedu);
• high waist;
• kunopinza uye kunowanzochinja mafungiro;
• kuneta;
• Kurwisa kwekusatenda uye kusava nehanya;
• chido chekuita zvisarudzo.

Sezvaunokura, Klinefelter's syndrome inofambira mberi - zviratidzo zvinowedzera kuzivikanwa panguva yekuyaruka:

• makumbo mapfupi akafanana nemakumbo marefu uye masimba asina kusimba;
• kuneta;
• kusakwanira kukura kwebvudzi pamuviri uye mumuviri;
• kukura kwakakwirira mukuenzanisa nevezera rako;
• kuwedzera kwemammary glands (gynecomastia);
• low libido ;
• kukanganisa kukura kwevhudzi rekubudisa;
• zvinyorwa zviduku uye penis (dzimwe nguva).

Izvo zvinonyanya kukosha mu karyotype, iyo inonyanya kuratidzwa Klinefelter syndrome. Muvakomana vane 2-3 ma-chromosomes maviri 23 mune zvimwe zviratidzo:

• osteoporosis;
• kududzirwa kwebhokisi;
• acrocyanosis;
• bradycardia;
• kuberekwa kwemwoyo kusakwana ;
• kukanganisa bite;
• astigmatism;
• ptosis ye maziso;
• strabismus ;
• nystagmus;
• kutuka kwakasimba kwetsoka nemichindwe;
• kukanganisa kwepfungwa;
• manic-depressive conditions;
• pasi IQ;
• kududzirwa kwevana;
• utsinye;
• yakareba uye yakadzika yemhino ine tsvimbo yakasimudzwa;
• muromo mukuru;
• kure zvakaparadzana meso;
• kuvapo kwezvakaipa zvinotyisa;
• misoro uye kurwiswa kwepfungwa yepamusoro;
• kuora mwoyo ;
• cholelithiasis;
• chirwere cheshuga mellitus;
• schizophrenia;
• kusava nesimba;
• kusabereka;
• varicose veins;
• kupindira kunodhaka, kudhakwa, ungochani.

Klinefelter's syndrome - maitiro ekuongororwa

Chiyero chechidzidzo chechipiri-chidzidzo chinobatsira kuziva hutachiwana huri kuongororwa munguva yekusununguka kwekukura kwekuberekwa. Zvose zviviri zvikamu zvakakosha kana Klinefelter's syndrome inofungidzirwa - kuongororwa kunofanira kusanganisira nzira dzisina kukodzera uye dzisingaiti. Kazhinji, chirwere ichi chinoramba chisingaonekwi vasati vakura, saka chinowanikwa kare muhucheche kana kuti munhu mukuru.

Klinefelter's syndrome - kutariswa kwepabonde

Chikamu chekutanga chekudzidza chinosanganisira kuongorora ropa rakaipa remamazuva anouya, uyo ari pavhiki yegumi nemasere kusvika pakuberekwa. Kana zvisingawanzogadziriswa zve chorionic gonadotropin uye plasma proteine ​​A iripo muhupenyu hwemhepo, mukadzi wacho anowanikwa muboka revakadzi vane pamuviri vane ngozi yekuva nemwana anorwara. Penguva dzinotevera, amniotic tissue kana mvura inongororwa (inowedzera kuongorora maitiro):

• amniocentesis ;
• biopsy;
• cordocentesis.

Nzira dzakadaro dzinobvumira, nekururama kwe 99,8%, kuramba kana kusimbisa Klinefelter's syndrome - fomu ye mosaic iyo inowanzoyerera pachivande, inotarirwawo nenzira dzakanyorwa. Zvidzidzo zvinoshamisa zvinobva pane tsanangudzo yakajeka yekaryotype yemasero kubva pane zvidzidzo zvakagadzirwa zvehupenyu, saka ivo vanovimbika uye vanovimbika sezvazvinogona.

Klinefelter's syndrome - miedzo

Kusangana kwepabonde kunosangana nekugadzwa kwei geneticist, endocrinologist kana andrologist. Chirwere cheKlinefelter chinobatsira kuziva nzira dzinotevera:

• A smear kubva mumuchembera wemuromo;
• kuongorora ropa (biochemical, hormonal);
• Ultrasound of the scrotum;
• testicular biopsy;
• kudzidza kuratidzwa paminwe;
• karyotyping.

Nzira yekurapa Klinefelter's syndrome?

Kunyatsobvisa zvachose chinonzi gene anomaly hazvibviri, saka kurapwa kunogadziriswa kuderedza zviratidzo zvayo. Vanhu vanofanira kuramba vachimira Klinefelter's syndrome - kurapwa kunoda kushandiswa kweupenyu hwose hwemadzimai evanhukadzi, kutanga nekutora nguva (makore gumi nemasere). Kupindira kwemukati kana majojo e testosterone anokurudzira kugadziriswa kwekuvandudzwa kwehutano hwekubereka nekushanda kwayo.

Dzimwe nzira dzokubata nayo Klinefelter's syndrome dzinodiwa kuti kuderedze zvinetso zvevarindi zvinokuvadza zvakatsanangurwa nezvirwere. Izvi zvinosanganisira:

• kuoma;
• kudzivirira zvirwere;
• dzidzo yepanyama;
• kupa zano chiremba uye mutauriri wekutaura;
• kugadzikana kwezviyero;
• mastectomy (kana zvichidiwa);
• kunamatira kune kudya kwakanaka.

Klinefelter's syndrome - kufungidzira

Izvi zvirwere hazvikuvadzi, zvine chirwere chenguva yakakodzera uye chakakwana, ngozi yezvinetso haigone. Kurapa kwakakodzera kunonyatsokurudzira kufungidzira kana Klinefelter's syndrome inowanikwa - hupenyu hwevarume vane chromosomal anomaly hwakafanana nevanhu vane hutano. Nekushandisa kwemamwe maitiro ekurapa, varwere vakanyatsogadziriswa munharaunda uye vakanyatsokwanisa kushanda. Vana vane Klinefelter's syndrome vanogona kukurawo kune vezera ravo vane hutano, chinhu chikuru ndechokutanga kushandisa testosterone munguva.

Ikozvino maitiro akawanikwa mumunda wemishonga yekuberekwa anobatsira kugadzirisa kunyange dambudziko rekushaya vana. Nzira ye in vitro fertilization uchishandisa nzira yeCII (intracytoplasmic injection sperm) yakatoedzwa kune varwere vane chirwere chinorondedzerwa. Mhinduro dzinowanikwa zvakanaka - vana vane utano hwakanaka vanozvarwa.

Klinefelter's syndrome - kudzivirira

Pamusana pekushaikwa kwemashoko akajeka pamusoro pezvikonzero zvekusimudzirwa kwema genetic mutation, kune zvimwe zvisati zvave nezviito zvekudzivirira. Harry Klinefelter's syndrome haikwanisi kudzivirirwa pachigamba chekuita pamuviri. Imwe nzira inofanirwa kutarisirwa ndeyokusarudzwa kwepabonde. Kana mwana akaonekwa kuti ane chirwere ichi, zvakakosha kudzivirira matambudziko. Nzira inobatsira yekubata Klinefelter's syndrome ndiyo mahomoni, aunofanira kushandisa nguva dzose.