Feem ntau cov kev mob caj ces muaj peev xwm kuaj tau thaum lub sij hawm pib hauv kev loj hlob los yog tom qab yug me nyuam. Qhov Syndrome, thawj zaug piav los ntawm Harry Klinefelter thiab Fuller Albright, yog qhov kev zam. Tus kab mob no feem ntau tshwm sim tsis txaus ntseeg rau xyoo lawm.
Klinefelter syndrome - nws yog dab tsi?
Kev sib deev ntawm tus me nyuam yog txiav txim los ntawm kev sib deev ntawm chromosomes. Nyob rau hauv ovules lawv tsuas yog ntawm ib hom - X, poj niam. Spermatozoa tuaj yeem nqa ob leeg zoo li chromosomes, thiab txiv neej - Y. Yog hais tias lub qe yog fertilized nrog gamete X, peb tau txais ib txheej XX, thiab ib tug ntxhais yuav yug. Thaum cov phev txiv neej nrog tus txiv neej noob ua tus ceev tshaj, tus XY teeb tsim, thiab tsev neeg xav kom tus menyuam.
Hauv qee zaum, X lossis Y chromosome tau muab luam tawm (txog li 3 zaug) thiab nws cov ntaub ntawv sib txuas nrog txuas nrog kev sib deev. Feem ntau hom sib txawv ntawm kev ua ke yog XXY - Klinefelter syndrome nrog cov txheej txheem no muaj nyob hauv cov tub ntxhais hluas ntau dua lwm hom. Qhov kev hloov tau yog qhov tseem ceeb hauv cov menyuam yaus tshwj xeeb tshaj yog cov txiv neej, cov ntxhais tuaj yeem tuaj yeem pathology tsis muaj mob.
Karyotype, yam ntxwv ntawm Klinefelter's syndrome
Txhua tus neeg muaj ib pawg ntawm chromosomes, uas yog 23 khub. Nws yog hu ua karyotype. Lub khub kawg (23) yog lub luag haujlwm rau kev ua haujlwm me nyuam thiab kev sib deev. Rau ib tus neeg mob Klinefelter's syndrome, tus karyotype yog tus yam ntxwv nrog cov hauv qab no:
- XXY;
- XYY
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY
Tus mob ntawm tus kab mob thiab qhov hnyav ntawm nws cov tsos mob yog nyob ntawm seb muaj pes tsawg tus ntawm cov ntsiab lus nyob rau hauv 23 tus khub. Klinefelter's syndrome nrog karyotypes, xws li 49 chromosomes, yog qhov kev hloov siab tshaj plaws. Tseem muaj ib qho mosaic hom anomaly, thaum qee tus hlwb muaj ib txwm muaj kev caj (46, XY), thiab tsuas yog qee yam ntawm lawv tau raug puas lawm (47, XXY). Nyob rau tej lub sijhawm no, pathology yog nrog cov cim tsis muaj zog thiab cov khoom tau yooj yim dua lwm hom kab mob.
Zaus ntawm Klinefelter Syndrome
Qhov kev ua txhaum tau piav qhia tsis yog tsis tshua muaj tshwm sim, nws raug kuaj pom nyob rau hauv cov txiv neej nyob rau hauv 0.2% ntawm tus neeg mob. Klinefelter syndrome tshwm sim hauv ib tus tub ntawm 500 cov menyuam yaus noj qab nyob zoo. Vim tias tus kab mob qeeb tau lig dhau lawm, tus kab mob no tsis yog tib qho kev hloov noob caj noob ces, tab sis kuj yog ib qho ntawm feem ntau qhov kev ua rau neeg tsis paub qab nyob hauv cov txiv neej.
Klinefelter syndrome - qhov ua rau ntawm
Nws tseem tsis tau tsim, yog vim li cas qee cov tub ntxhais hluas muaj tus chromosome ntxiv rau tus poj niam txiv neej. Muaj cov kev xav xwb, uas tuaj yeem ua rau Klinefelter qhov Syndrome - qhov ua rau muaj kev cuam tshuam rau lub cev tsis zoo:
- kis tus kab mob;
- cev xeeb tub dhau los los yog dhau los ;
- ntshav sib txheeb ntawm leej txiv thiab leej niam;
- adverse ecology.
Klinefelter's syndrome tsis yog niam txiv. Muaj ib los sis ntau dua chromosomes nyob rau hauv tus poj niam txiv neej nyob rau hauv ntau zaus ua rau infertility nyob rau hauv kom loj hlob. Tus neeg mob nrog no tus kab mob pathology no tsis muaj peev xwm muaj cov qub txuam nrog ib qho kev hloov noob caj noob ces zoo sib xws. Chromosome ntau heev tau ob leeg leej niam thiab leej niam, tiam sis poj niam nws muaj ntau dua (67% ntawm tus neeg mob).
Klinefelter syndrome - cov tsos mob
Tus kab mob no tsis qhia nws tus kheej rau lub sijhawm pib ntawm kev loj hlob hauv lub paj hlwb thiab thaum muaj hnub nyoog ntxov. Klinefelter syndrome hauv cov me nyuam yug los tsis tuaj yeem pom kev pom, tus me nyuam muaj qhov txawv ntawm lub cev (qhov siab, qhov hnyav, lub taub hau me ntsis) thiab tsim kom muaj kab mob hauv genitalia. Thawj cov tsos mob ntawm pathology yog cai ntawm 5 mus rau 8 xyoo, tab sis lawv tsis tshua yooj yim mus ntes thiab associate nrog cov noob hloov:
- kis tau rau kab mob kis tus kab mob thiab kis kab mob;
- kev lag luam me thiab kev hais lus;
- ntev ob txhais ceg (nyob rau hauv kev sib piv nrog lub pob tw);
- siab duav;
- hloov pauv thiab nquag hloov;
- nkees;
- Tua cov kev tsis ncaj ncees thiab kev tsis txaus siab;
- inclination rau antisocial tus cwj pwm.
Thaum koj loj hlob, Klinefelter's syndrome kuj nce zuj zus - qhov tshwm sim ua ntau dua thaum lub sijhawm pub dawb:
- nqaim lub nraub qaum nyob rau hauv txoj hauv kev nrog lub dav hips thiab cov leeg khov;
- rog;
- kev loj hlob tsis txaus ntawm cov plaub hau ntawm lub ntsej muag thiab lub cev;
- kev loj hlob zoo hauv kev sib piv nrog cov phooj ywg;
- o ntawm cov qog nqaij hlav (gynecomastia);
- tsis muaj libido ;
- effeminate kev loj hlob ntawm cov plaub hau yas;
- cov noob qes me thiab qwj (qee zaum).
Qhov ntau ntawm cov ntsiab lus nyob hauv karyotype, qhov hnyav tshaj plaws Klinefelter syndrome. Hauv cov tub hluas nrog 2-3 leeg chromosomes hauv 23 tus khub muaj cov tsos mob ntxiv:
- osteoporosis;
- deformation ntawm lub hauv siab;
- acrocyanosis;
- bradycardia;
- mob plawv tsis zoo ;
- tsis raug tom;
- astigmatism;
- ptosis ntawm ob lub qhov muag daj;
- strabismus ;
- nystagmus;
- muaj zog tawm hws ntawm cov taw thiab xib teg;
- hlwb ruamqauj;
- kev mob hlwb-kev ntxhov siab;
- tsawg IQ;
- deformation ntawm lub auricles;
- txhoj puab heev;
- ib lub thoob thiab qhov ntswg nrog ib qho taub ntswj;
- qhov ncauj loj;
- nrug deb qhov muag;
- qhov muaj cov mob neoplasms malignant;
- mob taub hau thiab tawm tsam ntawm kev kub ntxhov;
- mob plawv ;
- cholelithiasis;
- ntshav qab zib mellitus;
- tus mob schizophrenia;
- impotence;
- infertility;
- varicose leeg;
- propensity rau yees, haus dej cawv, homosexuality.
Klinefelter's syndrome - txoj kev kuaj mob
Tus txheej txheem 2-theem kawm yuav pab txhawm rau txheeb xyuas qhov kev xeeb tub hauv kev saib xyuas hauv lub sijhawm xeeb tub ntawm kev loj hlob hauv plab. Ob theem no tseem ceeb heev yog tias Klinefelter's syndrome yog xav tias - qhov kev kuaj mob yuav tsum muaj cov kev ua invasive thiab non-invasive. Ntau zaus, tus kab mob no tseem tsis pom muaj ua ntej tiav nkauj tiav nraug, yog li nws pom muaj nyob rau hauv thaum tiav hluas los yog neeg laus.
Klinefelter's syndrome - kev kuaj mob hauv plab
Thawj theem ntawm txoj kev tshawb no muaj kev ntsuam xyuas ntawm cov ntshav venous ntawm leej niam rau yav tom ntej, uas yog nyob rau ntawm 11-13 lub lim tiam ntawm gestation. Yog hais tias cov ntsiab lus tsis zoo ntawm chorionic gonadotropin thiab plasma protein A yog tam sim no nyob rau hauv cov roj ntsha kua, tus poj niam yog muaj nyob rau hauv cov poj niam cev xeeb tub uas muaj feem yuav muaj mob. Tom qab ntev, cov ntaub so ntswg amniotic los yog dej tau ntsuam xyuas (kev tshawb nrhiav cov kev kuaj):
- amniocentesis ;
- txoj hnyuv;
- cordocentesis.
Cov tswv yim zoo li no, nrog rau qhov tseeb ntawm 99.8%, los tawm tsam los yog qhia meej tias Klinefelter's syndrome - daim ntawv mosaic uas feem ntau ntws zais, yog txiav txim siab los ntawm cov txheej txheem uas tau teev tseg. Cov kev tshawb fawb muaj raws li cov ncauj lus kom ntxaws txog cov lus qhia ntawm karyotype ntawm cov qog ntawm cov kev kuaj lom, vim li ntawd lawv thiaj li ntseeg tau thiab txhim khu kev ntseeg tau.
Klinefelter's syndrome - kev tshuaj ntsuam
Kev kuaj mob tom qab yug me nyuam yog teem ntawm lub sij hawm ntawm ib tug kws kho mob geneticist, endocrinologist los orrologist. Tus kab mob Klinefelter tus kab mob yuav pab qhia tau hais tias:
- Lub smear los ntawm cov mucous membrane ntawm lub qhov ncauj;
- kuaj ntshav (biochemical, hormonal);
- Ultrasound ntawm scrotum;
- testicular biopsy;
- kawm txog kev kos cov ntiv tes;
- karyotyping.
Yuav kho tus kab mob Klinefelter li cas?
Ua kom tiav tua tau tus noob hiav txwv tsis muaj peev xwm ua tsis tau, yog li ntawd txoj kev kho yog tsom rau mitigating nws cov tshwm sim. Cov tib neeg yuav tsum nres Klinefelter qhov Syndrome no - qhov kev kho mob yuav tsum tau siv lub neej ntawm cov poj niam txiv neej pw ua ke, pib ntawm qhov pub dawb (11-12 xyoos). Sab hauv kev txais tos los yog txhaj tshuaj ntawm testosterone txhawb lub normalization ntawm txoj kev loj hlob ntawm kev ua me nyuam thiab nws cov hauj lwm.
Lwm txoj hauv kev kho tus mob Klinefelter's syndrome yog xav tau los pab kom tsis txhob muaj teeb meem tus kws kho mob uas ua rau tus kab mob tau piav qhia. Cov no suav nrog:
- sib zog;
- kev tiv thaiv tus kab mob;
- kev kawm tawm dag zog;
- tus pab tswv yim tus kws kho mob thiab tus kws kho mob hais lus;
- stabilization ntawm qhov hnyav;
- mastectomy (yog tias tsim nyog);
- ua raws li xuas khoom noj.
Klinefelter's syndrome - qhov kev paub txog
Cov kab mob pathology no tsis yog kev tuag, nrog rau kev kho kom raws sij hawm thiab tsim nyog, txoj kev pheej hmoo ntawm kev mob yog tsawg. Txoj kev kho kom zoo tuaj yeem pab kho tus mob dua qub yog tias Klinefelter's syndrome tau pom - qhov kev cia siab ntawm cov txiv neej nrog kev sib chromosomal anomaly yog tib yam li cov neeg noj qab nyob zoo. Nrog kev siv cov kev kho ntxiv, cov neeg mob tau txais kev yoog raws hauv zej tsoom thiab muaj peev xwm ua haujlwm. Cov menyuam yaus nrog Klinefelter's syndrome tuaj yeem tsim cov neeg zoo rau cov neeg noj qab haus huv, qhov tseem ceeb tshaj plaws yog pib siv hom tshuaj testosterone hauv lub sijhawm.
Qhov tseeb ua tau zoo hauv thaj chaw kws kho mob yuav pab daws cov teeb meem ntawm kev mob ntxiv lawm. Cov txheej txheem ntawm vitro fertilization siv cov txheej txheem ICSI (intracytoplasmic phev txhaj) twb tau kuaj ntawm cov neeg mob uas tau piav qhia txog pathology. Cov txiaj ntsim tau zoo yog qhov ua tau zoo - yeej yug tau tus xeeb ntxwv.
Klinefelter's syndrome - kev tiv thaiv
Vim yog tsis muaj tseeb cov ntaub ntawv ntawm qhov ua rau kev loj hlob ntawm kev hloov kev tshuaj ntsuam genetic, muaj raws li tseem tsis muaj kev ntsuas los tiv thaiv nws. Harry Klinefelter's syndrome tsis tuaj yeem tiv thaiv nyob rau theem ntawm kev npaj muaj menyuam hauv plab. Txoj kev tsim nyog tsuas yog kev kuaj mob hauv lub cev. Yog tias tus menyuam raug tus kab mob no, nws tseem ceeb heev kom txhob muaj teeb meem. Ib txoj hauv kev zoo rau kev kho Klinefelter's syndrome yog hormones, uas koj yuav tsum siv tas li.