I-Klinefelter's syndrome (i-syndrome 47, XXY) - izimbangela, izimpawu, ukwelashwa

Ngokuvumelana nomsebenzi walo, Ibhodi Lokuhlela le-MedTvoiLokony lenza yonke imizamo yokuhlinzeka ngokuqukethwe kwezokwelapha okuthembekile okusekelwa ulwazi lwakamuva lwesayensi. Ifulegi elengeziwe elithi "Okuqukethwe Okuhloliwe" libonisa ukuthi i-athikili ibuyekezwe noma yabhalwa udokotela ngokuqondile. Lokhu kuqinisekisa okuyizinyathelo ezimbili: intatheli yezokwelapha kanye nodokotela basivumela ukuthi sinikeze okuqukethwe kwekhwalithi ephezulu ngokuhambisana nolwazi lwamanje lwezokwelapha.

Ukuzibophezela kwethu kule ndawo kuye kwathakaselwa, phakathi kokunye, yiNhlangano Yezintatheli Zezempilo, eyaklomelisa Ibhodi Lokuhlela le-MedTvoiLokony ngesihloko sokuhlonipha esithi Umfundisi Omkhulu.

I-Klinefelter's syndrome (eyaziwa nangokuthi 47, XXY noma i-hypergonadotrophic hypogonadism) isifo esitholwa ngofuzo esenzeka emadodeni anezakhi zofuzo ezine-chromosome engu-X eyengeziwe kuwo wonke noma kwamanye amaseli omzimba. Esikhundleni sokuba nama-chromosome ocansi amabili - i-chromosome eyodwa engu-X kanye neyodwa engu-Y, njengoba kwenzeka kowesilisa onempilo, abantu abane-Klinefelter syndrome banama-chromosome ocansi amathathu - ama-chromosome angu-2 kanye ne-Y chromosome eyodwa. Ososayensi bakholelwa ukuthi i-2, i-XXY syndrome ingenye yezinkinga ezivame kakhulu izinguquko ze-chromosomal ezenzeka kubantu. Imbangela eyinhloko yezimpawu zalesi sifo amazinga aphansi e-testosterone egazini, ahambisana namazinga aphezulu e-gonadotrophin (ikakhulukazi i-FSH).

Ngisho noma bonke abesilisa abathintwe yilesi sifo bene-X chromosome eyengeziwe, akubona bonke abanazo zonke izimpawu ezibalwe ngezansi. Ngaphezu kwalokho, ukuqina kwalezi zimpawu kuncike enanini lamangqamuzana anenani elingavamile lama-chromosome, izinga le-testosterone emzimbeni, kanye neminyaka lesi sifo esitholakala ngaso.

Izimpawu ze-Klinefelter's syndrome zithinta izindawo ezintathu eziyisisekelo zokukhula:

  1. Okomzimba,
  2. Inkulumo,
  3. Okomphakathi.

I-Klinefelter Syndrome - Ukuthuthukiswa ngokomzimba

Ebuntwaneni, ukuqina kwemisipha namandla kuvame ukuba buthaka. Izingane ezithintekile zingase ziqale ukukhasa, zihlale phansi futhi zizihambele kade kunezingane eziphile saka. Ngemva kweminyaka engu-4, abafana abane-Klinefelter syndrome bavame ukuba bade futhi ngokuvamile babe nokungaxhumani kahle. Lapho befika ekuthombeni, imizimba yabo ayikhiqizi i-testosterone eningi njengabantu abanempilo. Lokhu kungaholela ekubeni nemisipha ebuthaka, izinwele zobuso nomzimba zibe buthakathaka. Ngesikhathi sokuthomba, abafana bangase babe namabele akhulisiwe (gynecomastia) futhi bakhulise ubuthakathaka bamathambo.

Lapho sebekhulile, amadoda analesi sifo angase abonakale efana nabantu abanempilo, nakuba ngokuvamile eba made kunabanye. Ngaphezu kwalokho, maningi amathuba okuba babe nezifo ezizimele, umdlavuza webele, izifo ze-venous, i-osteoporosis kanye nokubola kwamazinyo.

Ngemuva kokuthomba, izimpawu ezivame kakhulu zabantu abathintekayo yi-Klinefelter syndrome yilezi:

- ukukhula okuphezulu,

- isikhumba esiphaphathekile,

- imisipha engakhuliswanga kahle (okuthiwa isakhiwo somzimba we-eunuchoid),

- izinwele ezinciphile zomzimba: izinwele zobuso obubuthakathaka, izinwele ze-pubic zohlobo lwabesifazane ezizungeze izitho zangasese zangaphandle,

- amasende amancane anesakhiwo esifanele somthondo,

- ukwehla kwe-libido,

- i-gynecomastia yamazwe amabili.

Amadoda ane-Klinefelter syndrome angaphila impilo evamile yocansi. Kodwa-ke, ngenxa yokuthi imizimba yabo ingakhiqiza isidoda esincane noma singakhiqizi nhlobo, ama-95 kuya ku-99% awo ayinyumba.

I-Klinefelter syndrome - Inkulumo

Esikhathini sobusha, u-25 kuya ku-85% wabantu abane-Klinefelter syndrome banezinkinga zokukhuluma. Baqala ukukhuluma amagama abo okuqala kamuva kunontanga yabo, banezinkinga zokuveza izidingo zabo nemicabango yabo, kanye nokufunda nokucubungula ukwaziswa abakuzwayo. Njengabantu abadala, bakuthola kunzima ukuqeda imisebenzi yabo yokufunda nokubhala, kodwa iningi labo liyasebenza futhi bathole impumelelo ezimpilweni zabo zokusebenza.

I-Klinefelter syndrome - Impilo yezenhlalo

Ebuntwaneni, izingane ezine-Klinefelter syndrome zivame ukuthula futhi azikunaki ukunaka kwabantu abaseduze kwazo. Kamuva, bangase bangazethembi futhi bakhuthale, futhi babonise ukuzimisela okukhulu ukusiza nokulalela kunokontanga yabo.

Ngesikhathi sokuthomba, abafana banamahloni futhi bathule, yingakho ngokuvamile bengase babe nezinkinga "zokungena" eqenjini lontanga yabo.

Lapho befinyelela eminyakeni yobudala, baphila impilo evamile, baqale imindeni futhi babe nabangane. Bayakwazi ukungena ebuhlotsheni bomphakathi obujwayelekile.

I-Klinefelter's syndrome - Ingabe lesi sifo singelashwa?

I-Klinefelter's syndrome ingeyokuzalwa ngakho ayikwazi ukwelapheka. Nokho, kungenzeka ukunciphisa izimpawu zayo. Ngale njongo, kusetshenziswa izindlela zokwelapha eziningi, ezihlanganisa ukwelapha ngokomzimba, ngomlomo, ngokuziphatha, ngokwengqondo kanye nokwelashwa komndeni. Ngezinye izikhathi zisiza ekudambiseni izimpawu ezinjengokuqina kokuqina kwemisipha, izinkinga zokukhuluma noma ukuzethemba okuphansi. I-Pharmacotherapy yehliselwe ekusetshenzisweni kwe-testosterone replacement therapy (TRT). Ikuvumela ukuthi ubuyisele izinga laleli hormone egazini kumanani ajwayelekile, okwenza kube lula ukuthuthukiswa kwemisipha, ukwehlisa izwi, nokuthuthukiswa kwezinwele ezichichimayo.

Esinye sezici ezibaluleke kakhulu ezinquma ukusebenza kokwelashwa yisikhathi sokuqala sokuqaliswa kwayo.

Uyazi ukuthi:

Uma isici esilimaza i-spermatogenesis (inqubo yokwakheka kwesidoda) sisebenza kumasende omfana ozelwe, lokho okubizwa ngokuthi i-Klinefelter syndrome okusolakala ukuthi. Izimpawu ziyafana nesifo se-Klinefelter okuxoxwe ngaso ngenhla, kodwa ukuhlolwa kwe-karyotype akuvezi ubukhona be-chromosome yobulili engu-X eyengeziwe.

Umbhalo: MD Matylda Mazur

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