I-Klinefelter syndrome

I-Klinefelter syndrome yisimo sezakhi zofuzo esenzeka kwabesilisa lapho bane-X chromosome eyengeziwe.

Iningi labantu linama-chromosomes angama-46. Ama-Chromosomes aqukethe zonke izakhi zakho zofuzo kanye ne-DNA, izakhiwo zokwakha umzimba. Ama-chromosomes ocansi ama-2 (X no-Y) anquma ukuthi uba ngumfana noma intombazane. Amantombazane ngokuvamile anama-chromosomes ama-2 X. Abafana ngokuvamile bane-1 X ne-1 Y chromosome.

Imiphumela ye-Klinefelter syndrome lapho umfana ezalwa okungenani ene-chromosome engu-1 eyengeziwe ye-X. Lokhu kubhalwe njenge-XXY.

I-Klinefelter syndrome yenzeka ebafaneni abangaba ngu-1 kwabangu-500 kuya kwabangu-1 000. Abesifazane abakhulelwa ngemuva kweminyaka yobudala engama-35 mancane amathuba okuthi babe nomfana onalesi sifo kunabesifazane abasebasha.

Ukungabi nenzalo uphawu oluvame kakhulu lwe-Klinefelter syndrome.

Izimpawu zingafaka noma yikuphi okulandelayo:

• Izilinganiso zomzimba ezingajwayelekile (imilenze emide, isiqu esifushane, ihlombe elilingana nosayizi we-hip)
• Amabele amakhulu ngokungajwayelekile (gynecomastia)
• Ukungabi nenzalo
• Izinkinga zocansi
• Ngaphansi kwenani elijwayelekile le-pubic, ikhwapha nezinwele zobuso
• Amasende amancane, aqinile
• Ubude obude
• Usayizi wepipi omncane
  
  

I-Klinefelter syndrome ingahle ihlolwe kuqala lapho owesilisa eza kumhlinzeki wezokunakekelwa kwempilo ngenxa yokungabi nenzalo. Ukuhlolwa okulandelayo kungenziwa:

• I-Karyotyping (ihlola ama-chromosomes)
• Ukubalwa kwesidoda

Ukuhlolwa kwegazi kuzokwenziwa ukuhlola amazinga ama-hormone, kufaka phakathi:

• I-Estradiol, uhlobo lwe-estrogen
• I-follicle evuselela i-hormone
• I-hormone yeLuteinizing
• I-testosterone

Ukwelashwa kwe-testosterone kungabekwa. Lokhu kungasiza:

• Khulisa izinwele zomzimba
• Thuthukisa ukubukeka kwemisipha
• Thuthukisa ukuhlushwa
• Thuthukisa imizwa nokuzethemba
• Khulisa amandla ne-sex drive
• Khulisa amandla

Iningi labesilisa abanalesi sifo abakwazi ukukhulelisa owesifazane. Isazi sokuzala singakwazi ukusiza. Ukubona udokotela obizwa nge-endocrinologist nakho kungasiza.

Le mithombo inganikeza imininingwane eminingi nge-Klinefelter syndrome:

• Inhlangano ye-X ne-Y Chromosome Variations - genetic.org
• Umtapo Wezincwadi Kazwelonke Wezokwelapha, Isethenjwa Sasekhaya seGenetics - medlineplus.gov/klinefelterssyndrome.html

Amazinyo akhulisiwe anendawo yokuncipha ajwayelekile kakhulu ku-Klinefelter syndrome. Lokhu kubizwa ngokuthi yi-taurodontism. Lokhu kungabonakala kuma-x-ray wamazinyo.

I-Klinefelter syndrome futhi yandisa ubungozi be:

• Ukunaka ukungasebenzi kahle kwe-hyperactivity (ADHD)
• Ukuphazamiseka kokuzivikela komzimba, njenge-lupus, i-rheumatoid arthritis, ne-Sjögren syndrome
• Umdlavuza webele emadodeni
• Ukucindezeleka
• Ukukhubazeka kokufunda, kufaka phakathi i-dyslexia, ethinta ukufunda
• Uhlobo olungavamile lwesimila olubizwa ngokuthi i-extragonadal germ cell tumor
• Isifo samaphaphu
• I-osteoporosis
• Imithambo ye-Varicose

Xhumana nomhlinzeki wakho uma indodana yakho ingakhulisi izici zobulili zesibili ngesikhathi sokuthomba. Lokhu kufaka ukukhula kwezinwele ebusweni nokujula kwezwi.

Umeluleki wezofuzo anganikeza imininingwane mayelana nalesi simo futhi akuqondise ukuthi usekele amaqembu asendaweni yangakini.

Isifo se-47 XYY; Isifo se-XXY; I-XXY trisomy; 47, XXY / 46, XY; Isifo sikaMose; I-Poly-X Klinefelter syndrome

U-Allan CA, McLachlan RI. Izinkinga zokushoda kwe-Androgen. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, abahleli. I-Endocrinology: Eyabantu Abadala Neyengane. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 139.

IMatsumoto AM, i-Anawalt BD, ukuphazamiseka kwamasende. Ku: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 14. IPhiladelphia, PA: Elsevier; 2020: isahluko 19.

UNussbaum RL, McInnes RR, uWillard HF. Isisekelo se-chromosomal ne-genomic sesifo: ukuphazamiseka kwama-autosomes nama-chromosomes ocansi. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. I-Thompson & Thompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 6.