Phakathi kwe-neonatal pathologies ukuba izibini ezininzi ze-alamu zilindele umntwana, kukho enye, nangona inegama "elingaqhelekanga", lixhaphake kakhulu kunokuba libonakala. Le yi-Klinefelter syndrome (KS), echaphazela kuphela amadoda kwaye inoqikelelo, kodwa ayizange iqinisekiswe ngokupheleleyo, ukuxhaphaka kwe-1 echaphazelekayo ngokuzalwa kwe-500.
Yenye yeendlela eziqhelekileyo ze ianeuploidyt ngokungaqhelekanga kwinani le iichromosomes: Amadoda ngokuqhelekileyo ane-46, ebandakanya iperi ye-chromosomes yesini, u-X kunye no-Y; Abantu abanesi sifo banechromosome yesini enye ngaphezulu kuneseti yesiqhelo ye-XY kunye nenani elipheleleyo 47 o iichromosome ezininzi.
Nangona ngokwezibalo kunqabile, i KS isekhona ukuxilonga ngokwaneleyo y engaqondwa kakuhle. Akumangalisi ukuba kwixa elidluleyo, ukuxilongwa kwakusenziwa kuphela xa umntu emdala, “xa imeko yaqondwayo ngenxa yeengxaki ezibangelwa kukungafumani bantwana kwesi sibini.
Yintoni iKlinefelter Syndrome?
Njengoko siphawulile, isifo nguKlinefelter sisifo se-chromosomal esibonakala kubukho bekhromozomi ye-X eyongezelelweyo emadodeni. Kungenxa yempazamo engacwangciswanga ngexesha le-meiosis: i-XX kayise okanye isibini se-chromosome ye-XY ayahlukani kwaye i-embryo ifumana ii-chromosome ezimbini ze-X ngaphezu kwe-Y chromosome.
I-Klinefelter syndrome ibonakalisa ukufikisa okulibazisekileyo okanye okungagqibekanga, iinwele ezincinci, amabele akhule kakhulu, kunye nokungazali. Abantu abachatshazelwayo nabo badla ngokufumana iimeko ezinjengokudakumba, ukuxhalaba, ukufunda kunye neengxaki zolwimi.
Uxilongo lwenziwa ngovavanyo lomzimba, iimvavanyo zegazi ukuvavanya amanqanaba amahomoni athile, kunye novavanyo lwekaryotype, oluluncedo ekuqaqambiseni ikhromozomu ye-X eyongezelelweyo.
I-Klinefelter syndrome, echazwe okokuqala kwi-1942 nguNjingalwazi uHenry Klinefelter, na oyena nobangela uqhelekileyo we-hypogonadism , imeko yeklinikhi ebonakaliswe yi-testosterone ephantsi (ihomoni yamadoda) kunye nokunciphisa umthamo we-testicular. Isiganeko sayo sijikeleze i-1: 500-1000 yokuzalwa okuphilayo kwaye isanda kususwa kwiqela lezifo ezinqabileyo kwaye ithathwa njenge isigulo esinganyangekiyo.
Izizathu ezinokuthi zinike i-Klinefelter syndrome
ukuguqulwa akubangelwa kukuziphatha kakubi kukamama okanye kukatata (nangona ubudala bukamama obungaphezu kwama-35 bubonakala budlala indima) kwaye abunamfuzo; Ngoko ke, ngokungafaniyo nezinye izifo ze-chromosomal, i-Klinefelter syndrome ayiqhubeki kwiintsapho, kwaye abazali abanomntwana ogulayo abanakho amathuba okuba babe nomnye umntwana onale meko.
Ibandakanya ntoni iKlinefelter Syndrome?
Ukuba namhlanje i ukuxilongwa kwangaphambili eyenza ukuba ibonakale, i-prognosis enjalo yasekuqaleni nangona kunjalo ibeka iingxaki zonxibelelwano kunye kwamkelwa ngu bazali, lowo kufuneka achaze ngokucacileyo ukuba yintoni na iingxaki kubantwana babo: iziphene ezingephi imoto, Iilwimi, wokufunda kunye nokusekwa kwamathuba okungakwazi ukuzala. Ubunzima obunokwenzeka, apho izibini ezinokude zifune ukubhenela ekuphazamisekeni kokukhulelwa, zikhuthazwa ngaphezu kwazo zonke kukungazi kwesi sifo.
Kuhle ukwazi, nangona kunjalo, ukuba abantwana baya kukwazi ukuya kwizifundo zesikolo ngokunenzuzo, ukuziqhelanisa nemidlalo, ukugcina ubudlelwane obusondeleyo kunye nokuba neentlobano zesini kunye nesiqhelo esipheleleyo, ukugxininisa. Ndithatha igrafu.
Intsika yamachiza yonyango lunyango nge testosterone.
Oko kufuneka kuthathwe ubomi bonke ukuchasana nomfanekiso wehomoni oguqulwe iseti yechromosomal. Kulo mongo, kukho ingxaki ekufumaneni iintlobo ezahlukeneyo ze testosterone ezikhoyo ngoku, ezifana ne-transdermal patches okanye i-gels kunye ne-injection yonyango kunye nokulungiswa kwexesha elide, ekubeni i-dispensing ihluke kakhulu kwaye ayifumaneki kuzo zonke iinkqubo zokuhambisa impilo.7
Unyango lubandakanya unyango lwe testosterone kwaye, kwezinye iimeko, intetho, ukuziphatha, iphysiotherapy kunye nenkxaso yotyando (ukususa izicubu zamabele ezingaphezulu).
I-prognosis ilungile kwaye ixesha lokuphila lilingana nolo loluntu ngokubanzi.