Boholo ba liphatsa tsa lefutso bo ka fumanoa nakong ea tsoelo-pele ea intrauterine kapa kapele ka mor'a ho tsoaloa. Lefu lena, le hlalositsoeng ke Harry Klinefelter le Fuller Albright, ke khethollo. Hangata lefu lena le hlaha hoo e ka bang lilemo tse mashome.
Klinefelter's syndrome - ke eng?
Ho kopanela liphate ho ngoana ho khetholloa ka ho kopanya li-chromosome tsa thobalano. Li-ovules li na le mefuta e le 'ngoe feela - X, e tšehali. Spermatozoa e ka jara li-chromosome tse peli, le tsa banna - Y. Haeba lehe le kenngoa ka gamete X, re fumana setho sa XX, 'me ngoanana a tla tsoaloa. Ha spermatozoon e nang le liphatsa tsa lefutso li fetoha lebelo ka ho fetisisa, setho sa XY se thehoa, 'me lelapa le lebeletse moshemane.
Maemong a mang, chromosome ea X kapa Y e kopitsoa (ho fihlela ho makhetlo a mararo) 'me likarolo tsa eona li kopanngoa le batho ba kopanelang liphate. Mofuta o tloaelehileng ka ho fetisisa oa motsoako ke XXY - Klinefelter syndrome e nang le mofuta o joalo o fumanoa ho bashanyana hangata ho feta mefuta e meng. Phetoho e nkiloeng e le ea bohlokoa ho bana feela banna, banana ba hlahisitseng maloetse ha ba kula.
Karyotype, e nang le tšobotsi ea Klinefelter's syndrome
Motho e mong le e mong o na le li-chromosome, tse nang le lihlopha tse 23. E bitsoa karyotype. Bobeli ba ho qetela (23) bo ikarabella bakeng sa mesebetsi ea ho ikatisa le litšobotsi tsa thobalano. Bakeng sa mokuli ea nang le lefu la Klinefelter, karyotype ke setšoantšo le lihlopha tse latelang:
- XXY;
- XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY.
Tsela ea lefu lena le ho tiea ha matšoao a eona ho itšetlehile ka palo ea likarolo tse sa tloaelehang tse peli. Klinefelter's syndrome e nang le karyotypes, ho akarelletsa le li-chromosome tse 49, e nkoa e le mofuta o matla ka ho fetisisa oa phetoho. Ho sa ntse ho e-na le mofuta oa mebala oa bokooa, ha lisele tse ling li e-na le lisebelisoa tsa tlhaho tsa lefutso (46, XY), 'me tse seng kae feela li senyehile (47, XXY). Maemong a joalo, ho kula ho tsamaisana le matšoao a fokolang 'me ho feta habonolo ho feta mefuta e meng ea lefu lena.
Kamehla ea Klinefelter syndrome
Tlhekefetso e hlalositsoeng e tloaelehile, e fumanoa e le e motona ho 0,2% ea linyeoe. Lefu la Klinefelter le hlaha ho moshemane a le mong har'a bana ba 500 ba phetseng hantle. Ka lebaka la ho lemoha ha mafu a ho qetela, lefu lena hase feela liphetoho tse ngata tsa liphatsa tsa lefutso, empa hape le e 'ngoe ea ho se sebetse ha endocrine ka ho fetisisa ho banna.
Klinefelter's syndrome - sesosa sa
Ha e e-s'o thehoe, ke hobane'ng ha bashemane ba bang ba e-na le chromosome e eketsehileng ka bobeli ba thobalano. Ho na le likhopolo feela, tse ka bakang lefu la Klinefelter - lisosa tseo ho thoeng li baka moferefere:
- tšoaetso ea kokoana-hloko;
- pele ho nako kapa bokhachane ba nakoana ;
- kamano ea mali pakeng tsa ntate le 'mè;
- ho senya lintho tse phelang.
Klinefelter's syndrome ha e futsane. Ho ba teng ha li-chromosome e le 'ngoe ho batho ba kopanelang liphate maemong a mangata ho bakang ho hloka tekano khōlong e kholo. Mokuli ea nang le lefu lena ha a khone ho ba le majalefa a nang le tsoelo-pele e tšoanang ea lefutso. Kromosome e feteletseng e ka ba le tšimoloho ea ntate le ea motsoetse, empa ho basali e fumanoa khafetsa (67% ea linyeoe).
Klinefelter's syndrome - matšoao
Lefu lena ha le iponahatse nakong ea tsoelo-pele ea intrauterine le ho sa le monyenyane. Klinefelter syndrome ka masea a sa tsoa tsoaloa a ke ke a hlokomeleha ka ho hlaka, lesea le na le litšobotsi tse tloaelehileng (bophahamo, boima, moelelo oa hlooho) le ho thehoa ka tsela e nepahetseng. Matšoao a pele a patholose a bonoa lilemong tse 5 ho ea ho tse 8, empa li thata haholo ho lemoha le ho kopana le liphatsa tsa lefutso:
- ho itšireletsa ho tšoaetso ea kokoana-hloko le libaktheria;
- ho fokotseha hanyenyane ho ntlafatso ea motlakase le puo;
- maoto a malelele (ha a bapisoa le kutu);
- letheka le phahameng;
- ho fetoha ha maikutlo le khafetsa;
- mokhathala;
- Litlhaselo tsa ho hloka thahasello le ho hloka thahasello;
- tšekamelo ea boitšoaro bo sa tloaelehang.
Ha u ntse u hōla, lefu la Klinefelter's le eona le ntse le tsoela pele - matšoao a fetoha haholoanyane nakong ea bokhachane:
- mahetla a mokhutšoanyane a tšoanang le mahare a maholo le mesifa e sa tsitsang;
- botenya;
- ho hōla ho lekaneng ha moriri sefahlehong le 'meleng;
- khōlo e phahameng ho bapisoa le lithaka;
- ho eketsa litšoelesa tsa mammary (gynecomastia);
- tlaase libido ;
- ho eketsa bokhoni ba moriri oa bo-pubic;
- li-testicles tse nyane le penis (ka linako tse ling).
Lintho tse feteletseng tse karyotype, lefu la Klinefelter le matla haholo. Bakeng sa bashanyana ba nang le li-chromosome tse peli tse peli tse peli tse peli ho na le matšoao a eketsehileng:
- ho fokola ha masapo;
- ho khetholla sefubeng;
- acrocyanosis;
- bradycardia;
- bokooa ba pelo bo fokolang ;
- ho loma ho fosahetseng;
- astigmatism;
- ptosis ea mahlo a mahlo;
- strabismus ;
- nystagmus;
- mofufutso o matla oa maoto le liatla;
- ho lieha kelellong;
- maemo a tepeletseng maikutlo;
- IQ e tlase;
- ho fetoloa ha li-auricles;
- boitšoaro bo mabifi;
- khubu e pharaletseng le e pshatlehileng e nang le ntlha e phahamisitsoeng;
- molomo o moholo;
- mahlo a arohaneng haholo;
- ho ba teng ha li-neoplasms tse bohloko;
- hlooho le litlhaselo tsa khatello ea meriana;
- lefu la sethoathoa ;
- cholelithiasis;
- lefu la tsoekere;
- schizophrenia;
- ho hloka matla;
- ho hloka matla;
- methapo ea bo-varicose;
- tšelo ea ho lemalla joala, joala, bosodoma.
Klinefelter's syndrome - mekhoa ea ho hlahloba
Tlhahlobo e tloaelehileng ea bobeli ba sethaleng e thusa ho khetholla maloetse ao ho buuoang ka 'ona nakong ea bokhachane pele ho tsoalo ea bokhachane. Lihlopha tsena ka bobeli ke tsa bohlokoa haeba ho nahanoa hore Klinefelter's syndrome - lefu lena le lokela ho kenyelletsa mekhoa e hlaselang le e seng e hlaselang. Hangata, lefu lena le lula le sa tsejoe pele ho kena lilemong tsa bokhachane, kahoo le fumanoa le se le bocha kapa ho ba motho e moholo.
Klinefelter's syndrome - ho hlahlojoa ke lesea nakong ea bokhachane
Mokhahlelo oa pele oa thuto o kenyeletsa ho hlahloba mali a mafura a 'mè oa ka moso, ea libeke tse 11 ho isa ho 13 ho ea boseng. Haeba lintho tse sa tloaelehang tsa chorionic gonadotropin le protheine ea mali ea plasma li teng mokelikeli oa likokoana-hloko, mosali o kenyelelitsoe sehlopheng sa bakhachane ba nang le kotsing ea ho ba le ngoana ea kulang. Linakong tsa morao-rao, lisele tsa amniotic kapa metsi li hlahlojoa (mekhoa e hlaselang ea ho hlahloba):
- amniocentesis ;
- biopsy;
- cordocentesis.
Mekhoa e joalo e lumella, ka ho nepahala ha 99,8%, ho hanyetsa kapa ho tiisa hore na Klinefelter's syndrome - mofuta oa mosai o atisang ho phalla ka sekhukhu, o boetse o khethoa ke mekhoa e thathamisitsoeng. Liphuputso tse makatsang li thehiloe tlhaloso e qaqileng ea karyotype ea lisele ho tsoa mefuteng e fumanoang ea likokoana-hloko, ka hona e ka tšeptjoa ebile ea tšepahala ha ho khoneha.
Klinefelter's syndrome - liteko
Tlhahlobo ea bokhachane pele ho lefu e etsoa ka ho khethoa ha setsebi sa liphatsa tsa lefutso, setsebi sa ho qetela ha sebete kapa setsebi sa 'mele. Lefu la Klinefelter le thusa ho tseba mekhoa e latelang:
- Smear ho tswa ho lesea la molomo;
- teko ea mali (tlhahiso ea mali, li-hormone);
- Ultrasound ea scrotum;
- testicular biopsy;
- ho ithuta ho hula menoaneng;
- karyotyping.
Tsela ea ho tšoara lefu la Klinefelter's?
Ho felisa ka botlalo sehlahisoa se hlahisoang ke liphatsa tsa lefutso ke ntho e ke keng ea etsahala, ka hona phekolo e ikemiselitse ho fokotsa ponahatso ea eona. Batho ba tlameha ho emisa nako eohle Klinefelter's syndrome - phekolo e hloka hore motho a sebelise bophelo bohle ba li-hormona tsa botona le botšehali ka nako e telele, ho qala ka nako ea bocha (11-12). Kamohelo ea ka hare kapa liente tsa testosterone li khothalletsa ho tloaeleha ha tsoelo-pele ea mokhoa oa ho ikatisa le ho sebetsa ha eona.
Mekhoa e meng ea ho phekola lefu la Klinefelter's ho hlokahala ho fokotsa mathata a mohlokomeli a bakang lefu lena. Tsena li kenyelletsa:
- ho thatafatsa;
- thibelo ea tšoaetso;
- thuto ea nama;
- ho eletsa setsebi le setsebi sa puo;
- ho tsitsisa boima ba 'mele;
- ho ba le bothata ba maikutlo (haeba ho hlokahala);
- ho khomarela lijo tse nepahetseng.
Klinefelter's syndrome - ho hlahisa maikutlo
Ts'oaetso ena ha e bolaee, ka phekolo ea nako e lekaneng le e lekaneng, kotsi ea mathata ke e fokolang haholo. Kalafo e nepahetseng e ntlafatsa haholo mahlaseli haeba Klinefelter's syndrome e fumanoa - tebello ea bophelo ea banna ba nang le chromosomal ena e tšoana le ea batho ba phetseng hantle. Ka tšebeliso ea mekhoa e meng ea phekolo, bakuli ba feto-fetohile ka mokhoa o phethahetseng sechabeng 'me ba khona ho sebetsa ka botlalo. Bana ba nang le Klinefelter's syndrome ba ka tsoana le lithaka tse ts'oanang hantle, ntho e ka sehloohong ke ho qala ho sebelisa testosterone ka nako.
Liphetoho tsa morao-rao lefapheng la meriana ea ho ikatisa li thusa ho rarolla esita le bothata ba ho hloka bana. Mokhoa oa in vitro fertilization o sebelisa mokhoa oa ICSI (entracytoplasmic injection ea peō) e se e lekoa ho bakuli ba nang le lefu lena le hlalositsoeng. Liphello tsa liteko li ntle - bana ba phetseng hantle ba hlahile.
Klinefelter's syndrome - thibelo
Ka lebaka la ho hloka boitsebiso bo nepahetseng ka lisosa tsa tsoelo-pele ea phetoho ea liphatsa tsa lefutso, ho ntse ho se na mehato e sebetsang ea ho e thibela. Harry Klinefelter's syndrome e ke ke ea qojoa sethaleng sa moralo oa bokhachane. Tsela feela e hlokahalang ke ho hlahlojoa ke bokhachane pele ho lesea. Haeba ngoana a fumanoa a e-na le lefu lena, ke habohlokoa ho thibela mathata. Tsela e atlehang ea ho phekola lefu la Klinefelter's ke li-hormone, tseo u lokelang ho li sebelisa kamehla.