Isifo seKlinefelter

I-Klinefelter's syndrome yimeko yemvelo eyenzeka emadodeni xa ene-X chromosome eyongezelelweyo.

Uninzi lwabantu lunama-chromosomes angama-46. IiChromosomes ziqulathe zonke iijini zakho kunye neDNA, iibhloko zokwakha zomzimba. Ii-chromosomes zesini ezi-2 (X no-Y) zichonga ukuba uyinkwenkwe okanye intombazana. Amantombazana ahlala ene-2 ​​X yama-chromosomes. Amakhwenkwe ahlala ene-1 X kunye ne-1 Y chromosome.

I-Klinefelter's syndrome ibangela xa inkwenkwe izalwa i-chromosome eyi-1 eyongezelelweyo. Oku kubhalwe njenge-XXY.

I-Klinefelter's syndrome ivela kumntwana omnye kwabangama-500 ukuya kuma-1 000 kumakhwenkwe. Abasetyhini abakhulelweyo emva kweminyaka engama-35 banamathuba okuba babe nenkwenkwe enesi sifo kunabasetyhini abancinci.

Ukungakhulelwa luphawu oluqhelekileyo lwe-Klinefelter's syndrome.

Iimpawu zinokubandakanya nayiphi na kwezi zinto zilandelayo:

• Imilinganiselo yomzimba engaqhelekanga (imilenze emide, isiqu esifutshane, igxalaba elilingana nobungakanani benyonga)
• Amabele amakhulu ngokungaqhelekanga (gynecomastia)
• Ukungachumi
• Iingxaki zesini
• Ngaphantsi kwenani eliqhelekileyo le-pubic, ikhwapha, kunye neenwele zobuso
• Amancinci, amasende aqinileyo
• Ubude obude
• Ubungakanani bepenisi encinci
  
  

I-Klinefelter's syndrome inokuchongwa okokuqala xa indoda isiza kumboneleli wezempilo ngenxa yokungachumi. Olu vavanyo lulandelayo lunokwenziwa:

• I-Karyotyping (itshekisha ii-chromosomes)
• Ukubala kwamadlozi

Uvavanyo lwegazi luya kwenziwa ukujonga amanqanaba ehomoni, kubandakanya:

• I-Estradiol, uhlobo lwe-estrogen
• I-follicle evuselela i-hormone
• Ukuncipha kwehomoni
• Testosterone

Unyango lwe-testosterone lunokumiselwa. Oku kunokunceda:

• Khulisa iinwele zomzimba
• Ukuphucula ukubonakala kwezihlunu
• Ukuphucula uxinzelelo
• Ukuphucula imeko kunye nokuzithemba
• Yandisa amandla kunye nokuqhuba ngesondo
• Yandisa amandla

Uninzi lwamadoda anale syndrome awunakumenza umfazi akhulelwe. Ingcali yokungachumi inokukwazi ukunceda. Ukubona ugqirha obizwa ngokuba yi-endocrinologist nako kunokuba luncedo.

Le mithombo inokubonelela ngolwazi oluthe kratya kwi-Klinefelter's syndrome:

• Umbutho we-X kunye no-Y Chromosome Umahluko- genetic.org
• ILayibrari yeSizwe yezoNyango, Isalathiso seKhaya laseGenetics - medlineplus.gov/klinefelterssyndrome.html

Amazinyo awandisiweyo anobuso ocekeceke aqheleke kakhulu kwi-Klinefelter's syndrome. Oku kubizwa ngokuba yi-taurodontism. Oku kunokubonwa kumazinyo e-x-reyi.

I-Klinefelter's syndrome inyusa umngcipheko woku:

• Ukuthathelwa ingqalelo kwengxaki yokungasebenzi kakuhle kwengqondo (ADHD)
• Ukuphazamiseka komzimba, njenge lupus, isifo samathambo, kunye neSjögren syndrome
• Umhlaza webele emadodeni
• Uxinzelelo
• Ukukhubazeka ekufundeni, kubandakanya idyslexia, echaphazela ukufunda
• Uhlobo olunqabileyo lwethumba elibizwa ngokuba yi-extragonadal germ cell tumor
• Isifo semiphunga
• Unyango
• Iimvumba ze-Varicose

Nxibelelana nomboneleli wakho ukuba unyana wakho akabi nazo iimpawu zesini xa sele efikisa. Oku kubandakanya ukukhula kweenwele ebusweni kunye nokujula kwelizwi.

Umcebisi ngemfuza unokubonelela ngolwazi malunga nale meko kwaye akukhokele ukuxhasa amaqela kwindawo yakho.

Isifo se47 XYY; Isifo seXXY; I-XXY trisomy; 47, XXY / 46, XY; Isifo sikaMoses; Isifo sePoly-X Klinefelter

UAllan CA, uMcLachlan RI. Ukuphazamiseka kweAndrogen. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, ii-eds. Endocrinology: Abantu abadala kunye nabantwana. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 139.

IMatsumoto AM, iAnawalt BD, ukuphazamiseka kwamatyhalarha. Ku: UMelmed S, uAuchus, RJ, uGoldfine AB, uKoenig RJ, uRosen CJ, ii-eds. Incwadi kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahluko 19.

INussbaum RL, iMcInnes RR, uWillard HF. Isiseko se-chromosomal kunye ne-genomic yesifo: ukuphazamiseka kwee-autosomes kunye ne-chromosomes zesondo. Ku: Nussbaum RL, McInnes RR, Willard HF, ii-eds. Thompson & Thompson Genetics kwiyeza. Ngomhla we-8. IPhiladelphia, PA: Elsevier; 2016: isahluko 6.