Badanaa astaamaha unugyada ayaa la ogaan karaa inta lagu guda jiro horumarinta intrauterine ama markiiba dhalashada kadib. Cudurrada xanuunka, oo marka hore ku sharxay Harry Klinefelter iyo Fuller Albright, waa mid ka reeban. Cudurkan wuxuu inta badan ku dhacaa qiyaas ahaan tobannaan sano.
Klinfelter's syndrome - waa maxay?
Jinsiga ilmaha waxaa lagu go'aamiyaa isku dhafka jinsiyadaha galmada. In qoyaanka ay yihiin kaliya hal nooc oo ah - X, dumar. Spermatozoa waxay qaadi kartaa labadaba koromosoomyada la midka ah, iyo kuwa labka ah - Y. Haddii ukumaha lagu dhalaaliyo dhirta x, waxaan helnaa jumlad ah XX, gabarna way dhalan doontaa. Marka fermiyoonku uu la socdo ragga labka ah ayaa ugu dhakhsaha badan, kuraasta XY ayaa la sameeyaa, qoyska ayaana filaya wiilka.
Xaaladaha qaarkood, X ama Y kromosome ayaa la naqshadeeyaa (illaa 3 jeer) iyo tirooyinkooduna waxay ku xiran yihiin labada galmood. Kala duwanaanshaha ugu caansan ee isku dhafan waa XXY - Klinefelter syndrome sida noocaas ah ayaa laga helaa wiilasha inta badan noocyada kale. Isbedelka la tixgeliyaa waa mid caan ku ah carruurta, gaar ahaan ragga, gabdhaha soo bandhigay pathology maaha kuwo xanuunsan.
Karyotype, dabeecadda cudurka Klinefelter's syndrome
Qof kastaa wuxuu leeyahay shaxosomus shakhsi ah, oo ka kooban 23 lamaane. Waxaa loo yaqaan karyotype. Labada ugu dambeysa (23) waxay mas'uul ka yihiin shaqooyinka taranka iyo sifooyinka jinsiga. Bukaanka qaba xanuunka 'Klinefelter's syndrome', karyotype waa dabeecad siyaabaha soo socda:
- XXY;
- XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY
Xaaladda cudurka iyo darnaanta calaamadaha waxay ku xiran tahay tirada walxaha dheeraadka ah ee 23ka lamood. Cudurka Klinefelter ee qaba cytotypes, oo ay ku jiraan 49 koromosoom, ayaa loo tixgeliyaa qaabka ugu ba'an ee isbeddelka. Weli waxaa jira nooc muqadas ah oo aan caadi ahayn, marka unugyada qaarkood leeyihiin xeer caadi ah genetik (46, XY), oo kaliya qaar ka mid ah ayaa waxyeeleeyay (47, XXY). Xaaladahaas oo kale, pathology waxaa weheliya calaamado daciif ah oo si sahal ah uga fudud noocyada kale ee cudurka.
Joogitaanka Cudurka Klinefelter Syndrome
Xadgudubka la tilmaamay ayaa ah mid aan caadi ahayn, waxaa lagu ogaadaa tirada dadka ku nool 0,2% kiisaska. Cudurka Klinefelter wuxuu ku dhacaa hal wiil ilaa 500 oo caafimaad qaba. Marka la eego calaamadaha dambe ee cudurkan, cudurkani ma aha oo kaliya isbeddelada ugu weyn ee hidda-socodka, laakiin sidoo kale mid ka mid ah cilladaha ugu badan ee ku dhaca indho-la'aan ee ragga.
Klinfelter's syndrome - sababaha
Wali lama dhicin, sababta dhalinyaradu u leeyihiin hromosome dheeraad ah oo ku jira labada jinsi. Waxaa jira fikrado oo kaliya, oo keeni kara xanuunka 'Klinefelter's syndrome' - sababaha loola jeedo inay carqaladeeyaan anomalyaal:
- caabuqa fayraska;
- xaamilo goor hore ama ka dambeeya ;
- xiriirka dhiigga ee u dhaxeeya aabaha iyo hooyada;
- ecology xun.
Klinfelter's syndrome laguma dhaxlo. Joogitaanka hal ama in ka badan oo ah koromosoomyada ku jira labadii jinsi ee xaaladaha badankoodu waxay keenaan dhalmo la'aanta ba'an. Bukaan-socodka cudurkani waxa uu awoodi waayay in uu dhaxlo isku-dhafan isku mid ah. Koromosoomka xad-dhaafka ah wuxuu lahaan karaa labada hooyo iyo hooyada, laakiin dumarka waxaa badanaa laga helaa (67% kiisaska).
Klinfelter's syndrome - calaamadaha
Cudurkaan laftiisa ma muujin karo mudada uu ku jiro horumarinta intrauterine iyo da'da yar. Cudurka Klinefelter ee dhalaanka cusub looma ogaan karo muuqaal ahaan, cunuggu wuxuu leeyahay dabeecadaha caadiga ah jirka (dhererka, miisaanka, wareegga madaxa) iyo si sax ah loo sameeyay xubnaha taranka. Astaamaha ugu horreeya ee pathology ayaa la arkaa min 5 illaa 8 sano, laakiin way adag tahay in la ogaado oo lagu daro isbedelka hidaha:
- u nuglaanshaha cudurada viral iyo bakteeriyada;
- wax yar oo ku jira mootada iyo koritaanka hadalka;
- Lugaha dheer (marka la barbardhigo jirridda);
- garaac sare;
- isbedel niyadda ah oo isdaba joog ah;
- daal;
- Weerarrada nacaybka iyo faragelinta;
- rabitaanka dabeecadda lidka ku ah bulshada.
Markaad korto, Klinefelter's syndrome ayaa sidoo kale sii socota - calaamadaha ayaa noqda mid u caansan xilliga qaangaadhka:
- garbaha jilicsan ee barbar socda ee leh miskaha ballaaran iyo muruqyada aan dhammaysnayn;
- cayilka;
- koritaan aan ku filnayn timo wajiga iyo jidhka;
- Kobaca sare marka la barbar dhigo asxaabta;
- xoojinta qanjidhada naasaha (gynecomastia);
- libido hoose;
- kobcinta koritaanka timaha uurka leh;
- xiniinyaha yar yar iyo guska (mararka qaarkood).
Qaybaha ugu badan ee karyotype ee karyotype, calaamadda Klinefelter syndrome-ka ee aadka u daran. Wiilasha leh 2-3 unugyada koromosoomka ah ee ku jira 23ka lamaanaha waxaa ku jira calaamado dheeraad ah:
- osteoporosis;
- isbedelka laabta;
- acrocyanosis;
- bradycardia;
- cilladaha wadnaha ee dhasha ;
- qaniinyada aan sax ahayn;
- astigmatism;
- ptosis ee indhaha;
- strabismus ;
- nystagmus;
- dhidid dhidida cagaha iyo calaacalaha;
- niyad jab maskaxeed;
- xaaladaha niyad-jabka;
- IQ hoose;
- isbeddelka xuduudaha;
- dabeecadaha dagaalka;
- sanka ballaaran oo daboolan oo leh caarad kor u kaca ah;
- afka weyn;
- indhaha oo kala fog;
- joogitaanka neoplasms malignant;
- madax xanuun iyo weerarro foosha;
- suuxdin ;
- cholelithiasis;
- diabetes mellitus;
- shisoofraniya;
- itaaldarro;
- dhalmo la'aanta;
- xididdada isbeelka;
- munaasabadda la qabatimay, khamriga, khaniisnimada.
Klinfelter's syndrome - hababka ogaanshaha
Daraasad heerka 2-mar ah waxay kaa caawineysaa in lagu aqoonsado baaritaanka neefsiga iyada oo la tixgelinayo muddada uurka ee horumarka uurjiifka. Marxaladaha labadaba waa muhiim haddii uu shaki kaaga jiro cudurka Klinfelter - cudurku waa inuu ku jiraa habab aan habooneyn oo aan haboonayn. Inta badan, cudurkan weli lama dareemo ka hor qaangaadhka, sidaas awgeed waxaa laga helaa qaan-gaar ah ama qaan-gaar ah.
Klinfelter's syndrom - Ciladda dhalmada ka hor
Heerka koowaad ee daraasaddan waxay ku lug leedahay falanqaynta dhiigga dhiigga ee hooyada mustaqbalka ah, kaasoo ah 11-13-13 asbuuc gudaheeda. Haddii wax aan caadi ahayn ee gonadotropin chorionic ah iyo borotiinka A (plasma A) ay ku jiraan dareeraha bayoolajiga, haweeneyda waxaa lagu daraa kooxda haweenka uurka leh khatarta ah inay ku dhacdo ilmo xanuunsan. Marxaladaha dambe, unugyada amniotic ama biyaha ayaa la falanqeeyay (hababka baadhitaanka qallalka):
- amniocentesis ;
- biopsy;
- cordocentesis.
Farsamooyinka noocan oo kale ah, oo leh sax ah 99.8%, si ay u diidaan ama u xaqiijiyaan Klinefelter's syndrome - foomka masaajidka oo inta badan si qarsoodi ah u qulqulaya, ayaa sidoo kale lagu go'aamiyaa hababka taxan. Daraasadaha cilmi-baarista ah waxay ku salaysan yihiin fasiraad faahfaahsan ee karyotype ee unugyada laga helay shay-baarka noolaha laga helay, si ay u noqdaan kuwo lagu kalsoonaan karo loona kalsoonaan karo.
Klinfelter's syndrome - tijaabooyin
Ciladda dhalmada ka dib waxaa lagu sameeyaa ballan-qaad lagu sameeyo geneticist, endocrinologist ama orrologist. Cudurka Klinefelter wuxuu ka caawiyaa inuu tilmaamo farsamooyinka soo socda:
- Muuqaal ka soo baxa xuubka xuubka afka;
- baaritaanka dhiigga (biochemical, hormoon);
- Ultrasound ee xargaha;
- biopsy;
- barashada sawirka faraha;
- Karyotyping.
Sidee loo daaweeyaa Klinefelter's syndrome?
Si dhammaystiran u tirtira hiddesidaha hiddesiga ee la soo bandhigay waa wax aan macquul ahayn, sidaas awgeed daaweyn ayaa loogu talagalay in lagu yareeyo muuqaalkiisa. Dadka waa in ay si joogta ah u joojiyaan xanuunka 'Klinefelter's syndrome' - daaweynta waxay u baahan tahay isticmaalka dheeraadka ah ee hormoonada lab ah ee lab / dheddig, laga bilaabo xilliga qaangaarka (11-12 sano). Soo dhaweynta gudaha ama irbadaha testosterone waxay kor u qaadaan habka caadiga ah ee horumarinta nidaamka taranka iyo shaqadooda.
Siyaabo kale oo lagu daweeyo xanuunka 'Klinefelter's syndrome' ayaa loo baahan yahay si loo yareeyo dhibaatooyinka ka soo qaybgalayaasha ee ka soo horjeeda cudurka la tilmaamay. Kuwaas waxaa ka mid ah:
- adkeynta;
- kahortagga cudurka;
- waxbarashada jirdhiska;
- la-taliyaha iyo la-taliyaha hadalka;
- dejinta miisaanka;
- mastektomi (haddii loo baahdo);
- u hoggaansamida cunto isku dheeli tiran.
Klinfelter's syndrome - qiyaas ahaan
Daaweynta noocan ahi ma aha mid halis ah, oo leh waqti iyo daaweyn ku filan, halista dhibaatooyinka waa mid aad u yar. Daaweynta habboon waxay si weyn u hagaajineysaa saadaasha cudurka haddii Klinefelter's syndrome la ogaadey - rajada noolaanta ragga ee leh hindhisada koromosoomka ayaa la mid ah kuwa caafimaadka qaba. Iyadoo la adeegsanayo hababka dheeraadka ah ee daaweynta, bukaanka ayaa si fiican ugu habboon bulshada dhexdeeda waxayna si buuxda u awoodaan inay shaqeeyaan. Carruurta leh Klinefelter's syndrome waxay la mid yihiin kuwa la midka ah asxaabta caafimaadka leh, waxa ugu muhiimsan waa in la bilaabo isticmaalka testosterone wakhtiga.
Guulaha ugu dambeeyay ee daawada ilmo-galeenka ayaa gacan ka geysta xallinta xitaa dhibaatada dhalmo la'aanta. Habka bacriminta ee vitro iyadoo la adeegsanayo nidaamka ICSI (cirbadeynta lafdhabarta ee intracytoplasmic) ayaa mar horeba tijaabiyay bukaanada leh habka loo yaqaan "pathology". Natiijooyinka baaritaanku waa mid wanaagsan - dhirta caafimaad ahaanba waa mid caafimaad qaba.
Klinfelter's syndrome - ka hortagga
Sababtoo ah la'aanta xog sax ah oo ku saabsan sababta keentay horumarinta unugyada hidde-wade, haddana ma jiraan wax tallaabooyin wax ku ool ah oo looga hortagayo. Harry Klinefelter's syndrome looma hortagi karo marxaladda uurka. Nidaamka kaliya ee lagama maarmaanka u ah waa baaritaanka dhalmada kahor. Haddii cunugga laga ogaado cudurkan, waxaa muhiim ah in laga hortago dhibaatooyinka. Habka ugu fiican ee lagu daweeyo cudurka Klinfelter waa hoormoon, oo aad si joogto ah u isticmaasho.