I-Turner syndrome: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili zesifo
• Unyango lwenziwa njani

I-Turner syndrome, ekwabizwa ngokuba yi-X monosomy okanye i-gonadal dysgenesis, sisifo esingaqhelekanga sofuzo esivela kuphela kumantombazana kwaye siphawulwa kukungabikho ngokupheleleyo okanye ukungabikho kwenye yee-chromosomes ezimbini ze-X.

Ukungabikho kwesinye se-chromosomes kukhokelela ekubonakaleni kweempawu eziguqukayo ze-Turner syndrome, ezinje ngesiqu esifutshane, ulusu olugqithisileyo entanyeni kunye nesifuba esandisiweyo, umzekelo.

Ukuxilongwa kwenziwa ngokujonga iimpawu ezizisiweyo, kunye nokwenza uvavanyo lweemolekyuli ukuchonga ii-chromosomes.

Iimpawu eziphambili zesifo

I-Turner syndrome inqabile, yenzeka malunga no-1 kwabangama-2 000 abazalwa ngoku. Iimpawu eziphambili zesi sifo zezi:

• Ubume obufutshane, ukukwazi ukufikelela kwi-1.47 m ebudaleni;
• Ukugqithisa ulusu entanyeni;
• Intamo enamaphiko iqhotyoshelwe emagxeni;
• Umgca wokumiliselwa kweenwele kwindawo ephantsi;
• Ukujikisa iinkophe;
• Isifuba ebanzi kunye neengono zahlule kakuhle;
• Amaqhuma amaninzi agqunywe ziinwele ezimnyama kulusu;
• Ukulibazisa ukufikisa, ungayi exesheni;
• Amabele, ubufazi kunye nemilebe yelungu lobufazi zihlala zikhulile;
• Amaqanda ngaphandle kokukhulisa amaqanda;
• Utshintsho lwentliziyo;
• Iziphene zezintso;
• Iihemangiomas ezincinci, ezihambelana nokukhula kwemithambo yegazi.

Ukudodobala kwengqondo kwenzeka kwiimeko ezinqabileyo, kodwa amantombazana amaninzi ane-Turner syndrome akufumanisa kunzima ukuziqhelanisa nendawo kwaye bathambekele ekufumaneni amanqaku kakubi kwiimvavanyo ezifuna ukuxhamla kunye nokubala, nangona kuvavanyo lobukrelekrele bomlomo ziqhelekile okanye zingaphezulu kunesiqhelo.

Unyango lwenziwa njani

Unyango lwe-Turner's syndrome lwenziwa ngokweempawu eziboniswe ngumntu, kwaye ukubuyisela i-hormone, ikakhulu ukukhula kwehomoni kunye nehomoni zesini, kuhlala kucetyiswa ngugqirha, ukuze ukukhula kukhuthazwe kwaye amalungu ezesondo akwazi ukukhula ngokuchanekileyo. . Ukongeza, utyando lweplastiki lunokusetyenziselwa ukususa ulusu olugqithisileyo entanyeni.

Ukuba umntu naye uneengxaki zentliziyo kunye nezintso, kunokuba yimfuneko ukusebenzisa amayeza ukunyanga olu tshintsho kwaye, ngenxa yoko, vumela ukukhula kwentombazana okunempilo.