Iningi lezinto ezingezansi zofuzo zingatholakala ngesikhathi sokuthuthukiswa kwe-intrauterine noma ngemuva kokuzalwa. I-syndrome, echazwe okokuqala nguHarry Klinefelter no-Fuller Albright, ihlukile. Lesi sifo sivame ukuvela cishe emashumini eminyaka.
I-Klinefelter's syndrome - iyini?
Ubulili bomntwana kunqunywa ukuhlanganiswa kwama-chromosomes ocansini. Ama-ovules anesifo esisodwa kuphela - X, owesifazane. I-Spermatozoa ingathatha kokubili ama-chromosomes afanayo, namadoda - Y. Uma iqanda lihlwanyelwa i-gamete X, sithola isethi ye-XX, nentombazane izozalwa. Lapho i-spermatozoon enegciwane lesilisa iba i-fastest, i-XY isethiwe, futhi umndeni ulindele umfana.
Kwezinye izimo, i-X noma i-chromosome ye-Y ikopiwe (kuze kube izikhathi ezingu-3) futhi okuphindwe kabili kunamathele kumlingani wezocansi. Ukuhluka okuvame kakhulu kwenhlanganisela i-XXY - i-Klinefelter syndrome eneqoqo elinjalo litholakala kubafana kaningi kunezinye izinhlobo. Ukuguqulwa okucatshangelwayo kubonakala kuzingane kuphela indoda, amantombazane akwethulwa ngokugula ayaguli.
I-Karyotype, isici se-Klinefelter's syndrome
Umuntu ngamunye unesethi ye-chromosomes ngayinye, equkethe ama-pair amabili. Ibizwa ngokuthi i-karyotype. Isibili sokugcina (23) sinomthwalo wemisebenzi yokuzala kanye nezici zocansi. Ukuze isiguli esinesifo se-Klinefelter's, i-karyotype isici ngokusetha okulandelayo:
- XXY;
- I-XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY.
Inkambo yesifo kanye nobukhulu bezimpawu zayo kuxhomeke enombolweni yezici ezingenasici kulezi zibili. I-Klinefelter's syndrome ene-karyotypes, kufaka phakathi ama-chromosomes angu-49, kuthathwa njengesimo esibi kunazo zonke sokuguquka komzimba. Noma kunjalo kukhona uhlobo lwe-mosaic lwe-anomaly, lapho amanye amangqamuzana enesisindo esivamile sofuzo (46, i-XY), futhi ambalwa kuphela awonakele (47, XXY). Ezimweni ezinjalo, ukukhubazeka kuhambisana nezibonakaliso ezibuthakathaka futhi kutholakala kalula kunezinye izinhlobo zesifo.
Ukuvama kwe-Klinefelter syndrome
Ukuphulwa okuchazweyo akuvamile, kutholakala ukuthi kubesilisa besilisa ku-0.2% wamacala. I-Klinefelter syndrome kwenzeka kumfana oyedwa phakathi kwama-500 izingane ezinempilo. Njengoba kunikezwe ukutholakala kwesikhathi eside kwe-pathology, lesi sifo akuyona nje inguquko ejwayelekile kunazo zonke zezakhi zofuzo, kodwa futhi esinye sezidakamizwa ze-endocrine ezivame kakhulu kubantu.
I-Klinefelter's syndrome - izimbangela
Akukwakhiwa okwamanje, kungani abanye abafana benesifo esengeziwe se-chromosome eseceleni kwesondo. Kukhona imibono kuphela, engabangela i-Klinefelter's syndrome - izimbangela ezithathwa njengokuthi zenze i-anomaly:
- ukutheleleka ngegciwane;
- ukukhulelwa kakhulu noma ukukhulelwa kwesikhathi ;
- ubuhlobo begazi phakathi kukababa nomama;
- imvelo engalungile.
I-Klinefelter's syndrome ayizuze njengefa. Ukuba khona kwama-chromosomes owodwa noma ngaphezulu kumbhangqwana wesilisa ocansini ezimweni eziningi kubangela ukungabi nalutho ekuvuthweni. Isiguli esine-pathology asikwazi ukuthola izindlalifa ezinezakhi zofuzo ezifanayo. I-chromosome eyengeziwe ingaba nomsuka womama kanye nomama, kepha kubesifazane itholakala kaningi (amacala angu-67%).
I-Klinefelter's syndrome - izimpawu
Lesi sifo asizibonakali ngesikhathi sokuthuthukiswa kwe-intrauterine futhi zisencane. I-Klinefelter syndrome ezisanda kuzalwa ayikwazi ukubonakala, ingane isinezici ezijwayelekile zomzimba (ukuphakama, isisindo, umjikelezo wekhanda) kanye nokwakhiwa kahle kofuzo. Izimpawu zokuqala ze-pathology zigcinwa eminyakeni emihlanu kuya kweyisishiyagalombili, kodwa kunzima kakhulu ukuthola nokuzihlanganisa nokuguqula izakhi:
- ukutholakala kokutheleleka kwamagciwane kanye namagciwane;
- kancane ukugxila emotweni kanye nentuthuko yenkulumo;
- imilenze ende (uma kuqhathaniswa nesiqu);
- isikhumba esiphakeme;
- ukushintsha kwemizwelo ebukhali kanye njalo;
- ukukhathala;
- Ukuhlaselwa kokunganaki nokunganaki;
- ukuthambekela ekuziphatheni okungezwani.
Njengoba ukhula, i-Klinefelter's syndrome ibuye iqhubeke - izimpawu ziba khona ngokwengeziwe ngesikhathi sokukhulelwa:
- amahlombe amancane afana namagqabanzi amaningi kanye nemisipha engakhiwe;
- ukukhuluphala;
- ukukhula okwanele kwezinwele ebusweni nasemzimbeni;
- ukukhula okuphakeme uma kuqhathaniswa neontanga;
- Ukwandiswa kwezigulane ze-mammary (gynecomastia);
- i- libido ephansi;
- ukwandisa ukukhula kwezinwele ezishicilelwe;
- amaconsi amancane kanye ne-penis (ngezinye izikhathi).
Izakhi ezingenasici kakhulu ku-karyotype, i-Klinefelter syndrome ebonakala kakhulu. Kulabafana abanama-chromosomes amabili ama-duplicate ku-pair amabili kukhona izimpawu ezengeziwe:
- i-osteoporosis;
- ukuchithwa kwesifuba;
- i-acrocyanosis;
- i-bradycardia;
- ukukhubazeka kwenhliziyo okuzalwa ngaphakathi ;
- iphutha elingalungile;
- i-astigmatism;
- i-ptosis yamajwabu amehlo;
- i-strabismus ;
- i-nystagmus;
- ukujuluka okukhulu kwezinyawo nezindwangu;
- ukuphuza kwengqondo;
- izimo zokucindezeleka komuntu;
- IQ ephansi;
- ukuguqulwa kwama-auricles;
- ukuziphatha okubi;
- ikhala elibanzi neliphala elinendwangu ephakanyisiwe;
- umlomo omkhulu;
- amehlo ahlukene kakhulu;
- ukutholakala kwama-neoplasms amabi;
- ikhanda nokuhlaselwa kwesifo sofuba;
- isithuthwane ;
- i-cholelithiasis;
- isifo sikashukela mellitus;
- i-schizophrenia;
- ukungabi namandla;
- ukungabi namuntu;
- i-varicose veins;
- ukuxilisa, ukuphuza utshwala, ubungqingili.
I-Klinefelter's syndrome - izindlela zokuxilonga
Isifundo esisezingeni elijwayelekile lesi-2 sigaba sisiza ukuhlonza i-pathology ecatshangelwe ngesikhathi sokubeletha kokukhula komntwana. Zombili izigaba zibalulekile uma ngabe uKlinefelter's syndrome isolwa - ukuxilongwa kufanele kuhlanganise izindlela ezingenayo futhi ezingenasidingo. Ngokuvamile, lesi sifo sihlala singabonakali ngaphambi kokukhulelwa, ngakho-ke sitholakala kakade ekukhuleni noma kumuntu omdala.
I-Klinefelter's syndrome - ukuxilongwa ngaphambi kokubeletha
Isigaba sokuqala salolu cwaningo kuhilela ukuhlaziywa kwegazi elinomsoco lomama ozayo, oneminyaka engu-11-13 yesonto lokubeletha. Uma okuqukethwe okungavamile kwe- chorionic gonadotropin ne-plasma amaprotheni A kukhona emithonjeni yezinto eziphilayo, lona wesifazane uhlanganisiwe eqenjini labesifazane abakhulelwe abanengozi yokuba nomntwana ogulayo. Ngezikhathi zakamuva, izicubu ze-amniotic noma amanzi zihlaziywa (izindlela zokuhlaziya ezingavamile):
- amniocentesis ;
- i-biopsy;
- cordocentesis.
Amasu anjalo avumela, ngokunemba kwe-99.8%, ukuphikisa noma ukuqinisekisa isifo sikaKlinefelter's - ifomu le-mosaic elivame ukugeleza ngasese, liphinde lenziwe ngezindlela ezibalwe. Ucwaningo olumangalisa lusekelwe ekuchazeni okuningiliziwe kwe-karyotype yamaseli avela kuma-sampuli ephilayo, ngakho-ke anokwethenjelwa futhi anokwethenjelwa ngangokunokwenzeka.
I-Klinefelter's syndrome - ukuhlolwa
Ukuxilongwa kwangaphambi kokubeletha kwenziwa ngokuqokwa kwe-geneticist, i-endocrinologist noma i-andrologist. Isifo sikaKlinefelter sisiza ukukhomba amasu alandelayo:
- I-smear ekhanda lomsindo lomlomo;
- ukuhlolwa kwegazi (biochemical, hormonal);
- I-Ultrasound ye-scrotum;
- i-testicular biopsy;
- ukutadisha ukudweba iminwe;
- i-karyotyping.
Indlela yokuphatha ngayo i-Klinefelter's syndrome?
Ukuqeda ngokuphelele isifo se-gene anomaly esingenakwenzeka, ngakho-ke ukwelashwa kuhloswe ukunciphisa ukubonakaliswa kwayo. Abantu kufanele bayeke ukuyeka ukugula kukaKlinefelter's syndrome - ukwelashwa kudinga ukusetshenziswa kwama-hormone wesilisa omuntu wonke, kusukela esikhathini sokukhulelwa (iminyaka engu-11-12). Ukwamukela kwangaphakathi noma ukujova kwe-testosterone kukhuthaza ukusimama kokuthuthukiswa kohlelo lokuzala nokusebenza kwalo.
Izindlela ezingeziwe zokwelapha isifo sikaKlinefelter sikadinga ukunciphisa izinkinga zesisebenzi ezivusa izifo ezichazwe. Lokhu kufaka:
- ukuqina;
- ukuvimbela ukutheleleka;
- imfundo yomzimba;
- ukwelulekwa kwengqondo kanye nodokotela wezinkulumo;
- ukuqiniswa kwesisindo;
- i-mastectomy (uma kunesidingo);
- ukunamathela ekudleni okulinganiselayo.
I-Klinefelter's syndrome - ukubikezela
Lesi sifo asibulali, kanti ukwelashwa okufike ngesikhathi futhi okwanele, ingozi yezinkinga ayincane. Ukwelashwa okulungile kuthuthukisa kakhulu ukubikezela uma ngabe i-Klinefelter's syndrome itholakele - ukulindela kokuphila kwamadoda nalesi sikhono se-chromosomal kufana nabantu abanobuhle. Ngokusebenzisa izindlela zokwelapha ezengeziwe, iziguli zilungiswa kahle emphakathini futhi zikwazi ukusebenza ngokugcwele. Izingane ezine-Klinefelter's syndrome zingathuthuka ngokufanayo nakontanga enempilo, into esemqoka ukuqala ukusebenzisa i-testosterone ngesikhathi.
Ukuphumelela kwamuva emkhakheni wezokwelapha zokubeletha kusiza ukuxazulula ngisho nenkinga yokungasebenzi. Indlela yokufaka umanyolo we-in vitro esebenzisa inqubo ye-ICSI (injection ye-intracytoplasmic sperm) isivele ihlolwe ngeziguli ezine-pathology echazwe. Imiphumela yokuhlolwa iyinhle - inzalo enempilo ngokuphelele izalwa.
I-Klinefelter's syndrome - ukuvimbela
Ngenxa yokuntuleka kwemininingwane eqondile ngezimbangela zokuthuthukiswa kwezakhi zofuzo, azikho izinyathelo eziphumelelayo zokuzivimbela. I-Harry Klinefelter's syndrome ayikwazi ukuvinjelwa esiteji sokuhlela ukukhulelwa. Inqubo edingekayo kuphela ukuxilongwa ngaphambi kokubeletha. Uma ingane ithola ukuthi unesifo, kubalulekile ukuvimbela izinkinga. Indlela ephumelelayo yokwelapha i-Klinefelter's syndrome yi-hormone, okumele uyisebenzise njalo.