Klinfelter's Syndrome - Xaalad Hiv ah oo Saameyneysa Ragga
Klinfelter's syndrome waa xaalad hidde ah oo saameeya ragga kaliya. Halkan waxa ah waxa aad ka ogaan karto sababaha, astaamaha iyo fursadaha daaweynta ee xaaladda.
Waa maxay calaamadaha xanuunka 'Klinefelter'?
Klinfelter's syndrome waa cillad hiddesid oo saameeysa ragga kaliya. Waxaa loo magacaabay dhakhtarka Maraykanka ee Harry Klinefelter 1942dii, Klinfelter's syndrome wuxu saameeyaa qiyaastii mid ka mid ah 500 oo ragga uur leh, taas oo ka dhigaysa cillad aan caadi aheyn.
Waqtigaan xaadirka ah, celceliska wakhtiga cudurka waxaa laga helaa bartamihii 30aad, waxaana loo maleynayaa in kaliya afar meelood oo ragga ah ee qaba cudurka cilladda si rasmi ah loo aqoonsan yahay. Calaamadaha ugu caansan ee Klinefelter's syndrome waxaa ka mid ah horumarinta jinsiga iyo bacriminta, inkastoo ragga ragga ah, darnaanta calaamadaha ayaa si wayn u kala duwan. Xaaladda cudurka Klinefelter's syndrome ayaa la filayaa inay sii kordheyso.
Genetics of Klinefelter's Syndrome
Klinfelter's syndrome waxaa lagu gartaa xaalad aan caadi ahayn oo ku saabsan koromosoomyada ama walxaha hiddaha kaas oo ka dhigaya DNA-da.
Si caadi ah waxaan leenahay 46 kromosomes, 23 ka mid ah hooyooyinkeena iyo 23 aabaheena. Kuwaas oo dhan, 44 waa autosomes, 2 waa galmoosoomyo galmo. Jinsiga qofka waxaa lagu go'aamiyaa X-X iyo Y koromosoomyada leh ragga leh hal X iyo mid Y Yeterosomom (XY habka) iyo dheddigga leh labo X-koromosoom (Qaab-dhismeedka XX). Ragga, Y chromosome wuxuu ka yimaadaa aabaha iyo sidoo kale X ama Y koromosoom ayaa ka yimaada hooyada.
Isku geynta wadajirka, 46, XX waxaa loola jeedaa gabadh 46 jir, XY waxay qeexaysaa lab ah.
Klinfelter syndrome waa xaalad trisomy, iyada oo ku xiran xaalad saddexda ah, halkii laba ka mid ah koromosoomyada autosomalos ama koromosoomyada galmada. Halkii laga heli lahaa 46 kromosom, kuwa qaba trisomy waxay leeyihiin 47 chromosomes (inkastoo ay jiraan fursado kale oo leh Klinefelter syndrome hoos kuqoran.)
Dad badan ayaa yaqaanno Cilladda Down syndrome-ka. Cilladda Down syndrome waa triisomy oo ay ku jiraan saddexda koromosoomka 21aad. Qorshuhu wuxuu noqonayaa 47XY (+21) ama 47 XX (+21) taas oo ku xidhan haddii ilmuhu yahay rag ama dumar.
Klinfelter syndrome waa trizomy oo ah cirbadeynta galmada. Inta badan sida caadiga ah (qiyaastii 82 boqolkiiba wakhtiga) waxaa jira X-X-X dheeraad ah (habka XXY).
Si kastaba ha noqotee, 10 ilaa 15 boqolkiiba ragga qaba xanuunka Klinefelter, si kastaba ha ahaatee, waxaa jira qaab masax ah, taas oo ka badan hal isku darka ah ee koromosoomyada galmada, sida 46XY / 47XXY. (Waxaa sidoo kale jira dad qaba malarka Down syndrome .)
Waxyaabaha aan caadiga ahayn waa isku dhafan kale oo ah koromosoomyada galmada sida 48XXXY ama 49XXXXY.
Calaamadaha calaamadaha maskaxda ee "Klinefelter", calaamadaha iyo astaamaha waxay noqon karaan kuwo fudud, halka iskudhafyada kale, sida 49XXXXY badiyaa waxay keenaan calaamado qoto dheer.
Marka lagu daro Klinefelter's syndrome iyo Down syndrome-ka waxaa ku jira jirro kale oo bani-aadminnimo ah .
Cudurka Jeermiska ee Klinefelter's Syndrome - Nondisjunction iyo Shilalka ku dhaca woqooyiga Embryo
Klinfelter's syndrome waxaa keena qalad khaas ah oo hidde ah oo dhacda inta lagu jiro abuuritaanka ukunta ama shahwada, ama ka dib marka la fahmo.
Caadi ahaan, Klinefelter's syndrome ayaa dhacda sababtoo ah habka loo yaqaan 'nondisjunction' ee ukunta ama shahwada inta lagu jiro meiosis.
Meiosis waa geedi socodka hannaanka hiddaha oo la isku dhufto kadibna loo qaybiyo si loo siiyo nuqulka qalabka hidaha si ukunta ama shahwada. Nondisjunction, qalabka hidaha ayaa si aan sax ahayn u kala go'ay. Tusaale ahaan, marka unugyada kala qaybinayaan laba unug (ukunta) oo mid kasta oo leh nuqul ka mid ah X-koromosoomka, geedi socodka kala-guurka waxay u tagtaa askar si laba x-kioskomos ah ay u yimaadaan hal ukun iyo ukun kale ma helin X kromosome.
(Xaalad ka mid ah maqnaanshaha galmada ee jinsiga ama ukumaha ayaa keeni kara xaalado sida Turner syndrome, "monosomy" oo leh 45, XO.)
Nondisjunction inta lagu jiro meiosis ee ukunta ama shahwadu waa sababta ugu badan ee cudurka Klinefelter's syndrom, laakiin xaaladdu waxay sidoo kale dhici kartaa sababo khaladaad ah ee qaybta (ku-beddelidda) zygote ka dib marka la mariyo bacriminta.
Waxyaabaha Halista ah ee Klinefelter's Syndrome
Klinfelter's syndrome ayaa u muuqda in uu marar badan ku dhaco hooyada iyo da'da da'da weyn (da'diisu ka weyn tahay 35 jir). Hooyo dhalata da'da 40 sano waa laba ilaa saddex jeer oo u badan inay ubadkooda qaba Klinefelter's syndrome marka loo eego hooyada waa 30 jir dhalashada. Hadda ma garanayno wax kasta oo khatar ah oo ku saabsan Klinefelter's syndrome kaas oo dhacaya sababo khalad ah qaybta ka dambeysa dhalmada kadib.
Waxaa muhiim ah in mar labaad la fiiriyo in inta Klinefelter uu yahay cillad hidde ah, caadi ahaan ma aha "dhaxlo" sidaa daraadeed "kuma faraxsaneyn qoysaska." Taa baddalkeeda, waxaa sababa shil aan rasmi ahayn inta lagu jiro abuuritaanka ukunta ama shahwada, ama wax yar ka dib malayntu waxay dhacdaa. Ka-reebitaanku wuxuu noqon karaa marka shahwadu ka socoto nin qaba Klinefelter's syndrome loo isticmaalo bacriminta fitamiin (eeg hoos.)
Astaamaha Calaamadaha Cudurka Klinfelter (Syndrome)
Ragga badani waxay ku noolaan karaan xinjiriin dheeri ah oo aan lahayn wax calaamado ah. Dhab ahaantii, ragga waxaa laga yaabaa in marka hore la ogaado marka ay ku jiraan 20sano, 30s, ama ka weyn, marka shaqeyn la'aanta dhalatada ay ogaatid xanuunka 'syndrome'.
Ragga qaba calaamadaha iyo astaamaha, kuwani waxay inta badan sameeyaan inta lagu jiro baaluqnimada marka ay tijaabooyinku aysan horumarin sida ay tahay. Calaamadaha iyo astaamaha cudurka Klinefelter's syndrome waxaa ka mid ah:
- Naasaha waaweyn ( gynecomastia )
- Yar yaryar, xiniinyaha adag.
- Gus yar .
- Miisaan aan caadi ahayn iyo timaha jidhka.
- Qiyaasta jirka ee aan caadiga ahayn (badanaa waxay u egtahay in ay leedahay lugaha dheer iyo garbaha gaaban.)
- Naafada maskaxda - Curyaanimada barashada, gaar ahaan walaac ku saleysan luuqadaha ayaa ka badan kuwa aan lahayn cilladda, inkastoo baaritaannada sirdoonku caadi ahaan caadi yihiin.
- Libido yaraaday.
- Maqnaanshaha - Sida runtu tahay, ragga badan ma ogaanayaan inay haystaan Klinefelter ilaa ay isku dayayaan inay bilaabaan qoys iyaga iskood u ah, sida ragga qaba xaaladdan ma dhalin shahwada oo sidaas darteed gaboodfal ah. Baaritaannada hiddo-wadaha ayaa muujin doona joogitaanka X-X-X-X ee dheeraad ah oo ah habka ugu waxtarka badan ee lagu ogaan karo Klinefelter.
Ciladda cudurka Klinefelter's Syndrome
Cilmi-baarista Klinefelter's syndrome, sida kor ku xusan, ayaa badanaa la sameeyaa marka qofku soo bandhigo dhalmo la'aan iyo shahwad la'aantu waxaa laga helaa muunada shahwada. Baaritaanka unugyada hidde-wadaha (genary karyotype) ayaa markaa loo isticmaali karaa si loo xaqiijiyo cudurka.
Imtixaanka shaybaadhka, heerka heerka testosteron waa mid caadi ah, oo inta badan waa 50 illaa 75 boqolkiiba ka hooseeya ragga oo aan lahayn Klinefelter's syndrome. Maskaxda ku hay in ay jiraan sababo badan oo ah heerarka testosterone ee hooseeya ragga ragga iyo marka lagu daro Klinefelter's syndrome.
Gonadotropins, gaar ahaan hoormoonka kicinta ee hormoonka (FSH) iyo hormoonka luteining (LH) ayaa sarreeya, heerarka plazma estradiol ayaa badanaa la kordhiyaa (sababo aan la garanayn).
Fursadaha Daweynta loogu talagalay Klinefelter's Syndrome
Daaweynta Androgen (noocyada testosterone) waa qaabka ugu badan ee daaweynta ee Klinefelter's syndrome waxayna yeelan kartaa tiro badan oo waxtar leh, oo ay ku jirto horumarinta jinsiga, kor u qaadista timaha, kordhinta murqaha xoogga iyo tamarta, iyo yareynta suurtogalnimada osteoporosis. Inkastoo daaweyntu ay kor u qaadi karto dhowr calaamadood iyo calaamadaha cudurka, haddana badanaa ma soo celiyo bacriminta (eeg hoos.)
Qaliinka (yareynta naaska) ayaa laga yaabaa in loo baahdo ballaarinta weyn ee naasaha (gynecomastia) waxayna noqon kartaa mid waxtar badan ka heleysa dareenka.
Klinfelter's Syndrome iyo Infertility
Ragga qaba Klinefelter's syndrome ayaa badanaaba ah kuwa aan bini-aadan ahayn, inkastoo ragga qaarkii qaba maskaxda Klinefelter's syndrome ay u badantahay in ay la kulmaan dhalmo la'aan.
Isticmaalidda hababka dhiirigelinta, sida gonadotropic ama kicinta xayiraadaha sida loo sameeyo noocyada qaar ka mid ah dhalmo la'aanta labka ah ma shaqeynayo sababtoo ah la'aanta horumarinta imtixaanka ragga ee leh Klinefelter's syndrome.
Dheecaanku waxaa suurtagal ah in uu ka yimaado shahwo qalliin oo ka soo baxa tijaabooyinka, ka dibna loo isticmaalo bacriminta fitamiin. Nasiib darro, waxaa la ogaaday in la isticmaalayo IVF-ga shahwada ragga ee leh xanuunka Klinefelter's syndrome-ga waxay kordhin kartaa halista waxa loo yaqaan aneuploidy. Haddii ragga ay rabaan inay ka fikiraan ikhtiyaarkan, waa inay fahmaan faahfaahin ku saabsan sida falanqaynta genomics ee shahwada la samayn karo ka hor inta aan la galin.
Kicin la'aanta ragga qaba xanuunka Klinefelter waxay u furan tahay dareenka caadifadda, anshaxa, iyo anshaxa ee lamaanayaasha aan joogin ka hor intaan la dhicin bacriminta faytanka. La hadalka la-taliyaha hidda-la-qabsiga si aad u fahamto halista, iyo sidoo kale fursadaha lagu tijaabinayo kahor-galinta, waxay muhiim u tahay qofkasta oo ka fikiraya daaweyntan.
Klinefelter's Syndrome iyo Arimaha Kale ee Caafimaadka
Ragga qaba xanuunka Klinefelter waxay u muuqdaan inay ka badan yihiin celceliska xaaladaha caafimaad ee joogtada ah iyo rajada nolosha ee gaaban marka loo eego ragga aan qabin cudurka. Taasi waxay tidhi, waxaa muhiim ah in la ogaado in daaweynta sida bedelka testosterone lagu baranayo taas oo beddeli karta "tirakoobyada" mustaqbalka. Xaaladaha qaarkood oo ku badan ragga qaba xanuunka Klinefelter waxaa ka mid ah:
- Kansarka naasaha - Kansarka naasaha ee ragga qaba Klinefelter syndrome waa 20 jeer ka badan kuwa ragga oo aan lahayn klinfelter synomrome
- Osteoporosis
- Jeermiska unugyada unugyada
- Istaroog
- Xaaladaha maskaxda ee sida lupus erythematosis
- Cudurka wadnaha ee dhalaada
- Xididdada Varicose
- Dhiig xinjirow
- Cayilka
- Cudurka Metabolic
- Nooca 2aad ee sonkorowga
Klinfelter's Syndrome - Xaalad aan la ogaan karin
Waxaa la rumeysan yahay in Klinefelter's syndrome uu yahay mid aan la ogeyn, iyada oo lagu qiyaasay in 25 boqolkiiba ragga kaliya ee qaba cudurrada cudurrada keena (oo badanaaba lagu ogaado inta lagu jiro baaritaanka ilmo la'aanta.) Tani waxay marka hore u muuqan kartaa dhibaato, laakiin rag badan oo calaamadaha iyo astaamaha xaaladdan waa la daaweyn karaa, wanaajinta tayada nolosha. Samaynta baaritaanku waa muhiim sidoo kale marka la eego baaritaanka iyo maaraynta taxaddar ee xaaladaha caafimaad taas oo raggaasi ay halis dheeraad ah u yihiin.
Ilaha:
Calogero, A., Giaqulli, V., Mongioi, L. et al. Klinefelter Syndrome: Cudurka Wadnaha iyo Xanuunada Dheef-shiid kiimikaadka. Wargeyska Baaritaanka Endocrinological . 2017 Mar 3 (Epub ka hor daabac).
Groth, K., Skakebaek, A., Host, C., Gravholt, C., iyo A. Bojesen. Kliinikada Dib u Eegista: Klinefelter Syndrome - Cusbooneysiin Caafimaad. Joornaalka Endocrinology iyo Metabolismiska . 2013. 98 (1): 20-30.
Kasper, Dennis L .., Anthony S. Fauci, iyo Stephen L .. Hauser. Mabaadii'da Harrison ee Daawooyinka Gudaha. New York: Waxbarashada Mc Graw Hill, 2015. Daabac.
Kliegman, Robert M., Bonita Stanton, St Geme III Joseph W., Nina Felice. Schor, Richard E. Behrman, iyo Waldo E. Nelson. Nelson Textbook of Pediatrics. Qaybta 20-aad. Philadelphia, PA: Elsevier, 2015. Daabac.
McEleny, K., Cheetham, T., iyo R. Quinton. Miyay tahay inaanu siinno badbaadinta ilmo-xayirmeynta Miyir-qabashada Qalitaanka Cilad-maskaxeed ee Ragga la qaba Klinefelter Syndrome? . Endocrinology Clinical (Oxford) . 2017. 86 (4): 463-466.