Uninzi lwezinto ezingaqhelekanga zifumaneke ngexesha lophuhliso lwangaphakathi okanye emva kokuzalwa. Isifo, esichazwe nguHarry Klinefelter kunye ne-Fuller Albright, yinto ehlukile. Esi sifo sivame ukuvela ngokungafunekiyo kwiminyaka emininzi.
I-Klinefelter's syndrome - yintoni na?
Ukwabelana ngesondo lomntwana kunqunywe ngokudibanisa i-chromosomes yesondo. Kwi-ovules ziphela zintlobo enye - X, ibhinqa. I-Spermatozoa inokuthwala ii-chromosomes ezifanayo, kunye namadoda - Y. Ukuba iqanda lixutywa nge-gamete X, sifumana i-XX, kunye nentombazana iya kuzalelwa. Xa i-spermatozoon kunye nomdla wesilisa ihamba ngokukhawuleza, i-XY isetyenziswe, kwaye intsapho iyilindele le nkwenkwe.
Kwezinye iimeko, i-X okanye i-chromosome ye-Y ikopiwe (ukuya kumaxesha ama-3) kunye neziphindaphindiweyo zayo ziqhotyoshelwe kwisibini yesini. Uhlobo oluthile oluqhelekileyo lwenxulumano yi-XXY - I-Klinefelter syndrome eneesethi efunyenweyo ifumaneka kubafana abadla kaninzi kunezinye iintlobo. Ukuguqulwa okubonakalayo kuvela kubafundi kuphela, abantombazana abonisa ukukhubazeka abagula.
I-Karyotype, uphawu lwe-Klinefelter's syndrome
Umntu ngamnye unesigxina se-chromosomes, esineendidi ezingama-23. Kubizwa ngokuba yikaryotype. Ibini lokugqibela (23) lijongene nemisebenzi yokuzala kunye neempawu zesondo. Kwisigulane esinesihlungu sikaKlinefelter, i-karyotype iyimpawu kunye neeseti ezilandelayo:
- XXY;
- XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYONE.
Inkambo yesi sifo kunye nobukhulu beempawu zayo kuxhomekeke kwinani lezinto ezingabonakaliyo kwidilesi ezingama-23. I-Klinefelter's syndrome kunye nekaryotypes, kuquka i-49 i-chromosomes, ithathwa njengoluhlobo olubi kakhulu lokuguquka. Sekunjalo uhlobo lwe-mosaic lwe-anomaly, xa ezinye iiseli zinemithetho eqhelekileyo yofuzo (46, i-XY), kwaye kuphela ezimbalwa zazo ezilimele (47, XXY). Kwiimeko ezinjalo, ukukhubazeka kuhambelana nempawu ezibuthathaka kwaye kuqhubeka ngokulula ngaphezu kwezinye iintlobo zesifo.
Ukuphindaphinda kwe-Klinefelter syndrome
Ukuphulwa okuchazweyo akuqhelekanga, kufunyaniswa kwisigxina samadoda kwi-0.2% yamatyala. I-Klinefelter syndrome ivela kwinkwenkwe enye phakathi kwabantwana abaphilileyo abangama-500. Ngenxa yokufumanisa ngokukhawuleza kwe-pathology, esi sifo asikho nje ukutshintshwa kwezinto ezifuywayo ngokubanzi, kodwa enye yezona zinto zihlala zingasebenzi kwi-endocrine.
I-Klinefelter's syndrome - izizathu
Akukasekwa, kutheni amanye amakhwenkwe anechromosome eyongezelelweyo kwisini lesini. Kukho iingcamango kuphela, ezinokubangela i-Klinefelter's syndrome - izizathu ezibangelwa ukuphazamiseka:
- ukusuleleka kwintsholongwane;
- ukukhulelwa kwangaphambili okanye ukukhulelwa emva kwesikhathi ;
- ubudlelwane begazi phakathi kobawo nonina;
- zendalo.
I-Klinefelter's syndrome ayizuze ilifa. Ukuba khona kwee-chromosomes enye okanye ngaphezulu kwezesini kwiimeko ezininzi kubangela ukungabikho kokukhula. Isigulane esinalo le-pathology asikwazi ukufumana izindlalifa ezinezitshintsho ezifanayo zofuzo. I-chromosome eyongeziweyo inokuvela kwimvelaphi yesibini kunye nomama, kodwa kubasetyhini ifunyanwa rhoqo (67% amacala).
I-Klinefelter's syndrome - iimpawu
Esi sifo asibonakali ngexesha lokuphuhliswa kwe-intrauterine nasebuncinaneni. I-Klinefelter syndrome kwiintsana eziza kuzalwa azikwazi ukubonakala ngokubonakalayo, usana lunempawu eziqhelekileyo ezibonakalayo (ukuphakama, ubunzima, intambo yekhanda) kwaye ngokufanelekileyo zakha i-genitalia. Iimpawu zokuqala zentsholongwane zigcinwa kwiminyaka emi-5 ukuya kweyesi-8, kodwa kunzima kakhulu ukubona kunye nokudibanisa nokuguquka komzimba:
- ukukhuselwa kwe-virus kunye ne-bacterial infections;
- ncitshitshiswe kwi-motor and speech development;
- Imilenze ende (xa kuthelekiswa nesiqu);
- isikhumba esiphakeme;
- ukuguquka kwemizwelo ebukhali kwaye rhoqo;
- ukukhathala;
- Ukuhlaselwa kokunganakwa kunye nokunganakwa;
- ukuthambekela ekuziphatheni okubi.
Njengoko ukhula, i-Klinefelter's syndrome iqhubekela phambili-impawu ziba zivakaliswa ngakumbi ngexesha lokukhulelwa:
- amathanga amancinci afana neentambo ezininzi kunye nezihlunu ezingapheliyo;
- ukunyanya;
- Ukukhula okwaneleyo kweenwele ebusweni nasemzimbeni;
- Ukukhula okuphezulu ngokuthelekisana noontanga;
- Ukwandiswa kweengcambu ze-mammary (gynecomastia);
- libido ephantsi;
- ukuphelisa ukukhula kweenwele ze-pubic;
- amancinci amancinci kunye neepeni (ngamanye amaxesha).
Izixhobo ezingenasiphelo kwi karyotype, i-Klinefelter syndrome ebonakaliswa kakhulu. Ngamakhwenkwe anama-chromosomes aphindaphindiweyo angama-2-3 kwi-23 isibini kukho iimpawu ezongezelelweyo:
- osteoporosis;
- ukuguquka kwesifuba;
- acrocyanosis;
- bradycardia;
- ziphosakeleyo zentliziyo ;
- ilanga elingalunganga;
- astigmatism;
- i-ptosis yeenkophelo;
- i-strabismus ;
- nystagmus;
- Ukukhupha okunamandla kweenyawo kunye neentende;
- ukulahlwa kwengqondo;
- iimeko zokudandatheka;
- IQ ephantsi;
- ukuchithwa kweearticles;
- ukuziphatha okubi;
- impumlo ebanzi kunye neplati kunye nesiphakamiso esiphakanyisiweyo;
- umlomo omkhulu;
- amehlo ahlukeneyo;
- ubukho beeplastiki ezimbi;
- intloko kunye nokuhlaselwa komfutho wegazi ophezulu;
- ukuhluthwa ;
- cholelithiasis;
- isifo sikashukela;
- schizophrenia;
- ukungabi namandla;
- ukungabikho;
- imilenze ye-varicose;
- ukuxilisa, ukusela utywala, ubundlobongela.
I-Klinefelter's syndrome - iindlela zokuxilonga
Uvavanyo olusisigxina lwe-2-sigaba lunceda ukufumanisa i-pathology ephantsi kwengqwalasela ngexesha lokubeleka kokukhula komntwana. Zomibini izigaba zibalulekile ukuba i-Klinefelter's syndrome ikhunjulwa - ukuxilongwa kufuneka kuquke iindlela ezingenayo kunye nezingenayo. Ngokuqhelekileyo, esi sifo asihlala singabonwa ngaphambi kokuba sitshatshe, ngoko sifumaneka sele sisakhula okanye sikhulile.
I-Klinefelter's syndrome - ukuxilongwa ngaphambi kokubeletha
Isigaba sokuqala sophando siquka ukuhlaziywa kwegazi elinomdla lomama ozayo, ophakathi kweveki ye-11-13 yesigxina. Ukuba umxholo ongaqhelekanga we- chorionic gonadotropin kunye neprojekthi ye-plasma A ikhoyo kwi-biological fluid, lo mfazi uqukwa kwiqela labafazi abakhulelweyo abaneengozi yokuba nomntwana ogulayo. Kwixesha lexesha elizayo, izicubu ze-amniotic okanye amanzi ahlalutyiwe (iindlela zokuxilonga ezingenayo):
- amniocentesis ;
- biopsy;
- cordocentesis.
Iindlela ezinjalo zivumela, ngokuchanekileyo kwengu-99.8%, ukuchasa okanye ukuqinisekisa i-Klinefelter's syndrome - ifom ye-mosaic edla ngokukhawuleza ngasese, ikwachongwa ngeendlela ezidweliswe. Izifundo ezidibeneyo zisekelwe kwingcaciso ecacileyo yekaryotype yeeseli ezivela kwiisampuli ze-biological, ngoko zithembeka kwaye zinokwethenjelwa kunokwenzeka.
I-Klinefelter's syndrome - iimvavanyo
Ukuxilongwa kwangemva kokubeletha kwenziwa ngokutyunjwa kwe-geneticist, i-endocrinologist okanye i-andrologist. Isifo sikaKlinefelter sinceda ukuchonga amacandelo alandelayo:
- I-smear evela kumlenze womlomo womlomo;
- ukuhlolwa kwegazi (i-biochemical, hormonal);
- I-Ultrasound ye-scrotum;
- biopsy;
- ufunde ngokudweba kwiminwe;
- karyotyping.
Indlela yokuphatha ngayo i-Klinefelter's syndrome?
Ukuphelisa ngokupheleleyo i-anomali yesifo esingenakwenzeka, ngoko ke unyango lujoliswe ekunciphiseni ukubonakaliswa kwayo. Abantu kufuneka bayeke ukuyeka i-Klinefelter's syndrome - unyango lufuna ukusetyenziswa kwimihla ngemihla yama-hormone wesini, kuqale ngexesha lokukhulelwa (iminyaka eyi-11-12). Ukwamkelwa kwangaphakathi okanye iisuntsho ze testosterone zikhuthaza ukusimisela ukuphuhliswa kwenkqubo yokuzala kunye nokusebenza kwayo.
Izindlela ezongezelelweyo zokunyanga i-Klinefelter's syndrome zifunekayo ukuze kuncitshiswe iingxaki zomlindi ezikhupha izifo. Ezi ziquka:
- lukhuni;
- ku thintela usulelo;
- zemfundo;
- ukucebisa iingcali kunye neengcali zokuthetha;
- ukuzinza kwesisindo;
- imastectomy (ukuba kuyimfuneko);
- ukunamathela kwisondlo esifanelekileyo.
I-Klinefelter's syndrome - isalathisi
Le nzala ayiyikufa, kunye neyonyango efanelekileyo ngexesha elifanelekileyo nelifanelekileyo, umngcipheko weengxaki ziyancinci. Unyango olulungileyo luphucula kakhulu ukunyanzeliswa ukuba i-Klinefelter's syndrome ifunyenwe - ukulindela ubomi kwabantu abanobuhle be-chromosomal kuyafana nabantu abasempilweni. Ngokusebenzisa iindlela ezongezelelweyo zonyango, izigulane zilungeleleneyo kuluntu kwaye zikwazi ukusebenza ngokupheleleyo. Abantwana abane-syndrome kaKlinefelter bangahlakulela ngokufanayo kwiontanga eziphilileyo, into ephambili kukuqala ukusebenzisa i-testosterone ngexesha.
Ukuphumelela kwangoku kwintsimi yonyango lokuzala kunokunceda ukuxazulula kwanengxaki yokungabikho kwengqondo. Indlela yokwenza i-in vitro fertilization isebenzisa inkqubo ye-ICSI (intertoplasmic injection sperm) sele ivivinywe kwizigulane ezinezifo ezichaziweyo. Iziphumo zokuvavanya zilungile - inzala ephilileyo iyazalwa.
I-Klinefelter's syndrome - ukukhusela
Ngenxa yokungabikho kwedatha echanileyo malunga nezizathu zokuphuhliswa kwemfuza yokuguqula izityalo, akukho nanyathelo elifanelekileyo lokukhusela. I-syndrome kaHarry Klinefelter ayikwazi ukukhuselwa kwisigaba sokucwangcisa ukukhulelwa. Inkqubo eyimfuneko kuphela yokuxilongwa kwangaphambi kokubeletha. Ukuba umntwana ufumanisa ukuba unesi sifo, kubalulekile ukukhusela iingxaki. Indlela esebenzayo yokunyanga i-Klinefelter's syndrome yi-hormone, okufuneka uyisebenzise rhoqo.