Klinefelter syndrome

Klinefelter syndrome o se tuʻufaʻasolosolo tulaga e tupu i tama pe a latou maua faʻaopopo X chromosome.

Tele tagata e 46 chromosome. Chromosome o loʻo i ai au genes uma ma DNA, o poloka fale o le tino. O le 2 feusuaiga chromosome (X ma le Y) fuafua pe avea oe ma tama poʻo se teine. Teine e masani ona i ai X X chromosome. E masani ona maua e tama le 1 X ma le 1 Y chromosome.

Klinefelter syndrome faʻaiʻu ina ua fanau mai se tama ma le itiiti ifo 1 sili atu X sili atu chromosome. Lenei ua tusia o XXY.

Klinefelter syndrome tupu pe a ma le 1 mai le 500 i le 1,000 pepe tama. Tamaʻitaʻi e maʻitaga pe a maeʻa tausaga 35 e foliga mai e tele se tamaititi e maua i lenei faʻamaʻi nai lo fafine laiti.

Ole faʻamalositino ole faʻailoga masani ole Klinefelter syndrome.

Faʻailoga mafai ono aofia ai soʻo se tasi o mea nei:

• Tulaga le masani ai tino (vae uʻumi, pogati ogalaau, tauʻau tutusa ma suilapalapa tele)
• Foafoa lapoʻa (gynecomastia)
• Le fanau
• Faafitauli tau feusuaiga
• Itiiti ifo ile masani aofai o pubic, armpit, ma foliga lauulu
• Laʻititi, mautu testicle
• O le maualuga umi
• Laʻititi tele pene
  
  

Klinefelter syndrome atonu e muamua iloa pe a sau se tamaloa i le soifua maloloina ona o le le fanau. O suʻega ia e ono faia:

• Karyotyping (siaki le chromosome)
• Faitauga semeni

O suʻega toto o le a faia e siaki ai le maualuga o le homone, e aofia ai:

• Estradiol, o se ituaiga o estrogen
• Follicle faʻaosofia le homone
• Luteinizing homone
• Testosteron

E mafai ona faatonuina le fofo o le testosterone. Lenei mafai ona fesoasoani:

• Tupu lauulu tino
• Faʻaleleia le aliali mai o maso
• Faʻaleleia le faʻatinoina
• Faʻaleleia le lagona ma lou talitonu ia te oe lava
• Faateleina le malosi ma feusuaiga feusuaiga
• Faateleina le malosi

Ole toʻatele o aliʻi e maua ile faʻamaʻi lenei e le mafai ona maua se fafine maʻitaga. Atonu e mafai e se faʻapitoa faʻapitoa mo se fesoasoani. O le vaʻai ile fomaʻi ua faʻaigoaina ole endocrinologist atonu e aoga tele.

O nei faʻamatalaga e mafai ona maua ai nisi faʻamatalaga i luga o le Klinefelter syndrome:

• Asosi mo X ma Y Chromosome Fesuiaʻiga - genetic.org
• National Library of Medicine, Genetics Home Reference - medlineplus.gov/klinefelterssyndrome.html

O nifo faʻateleina ma le manifinifi luga e taatele ile Klinefelter syndrome. E taʻua lea ole taurodontism. Lenei mafai ona vaaia i nifo x-ave.

Klinefelter syndrome faʻateleina foi le aʻafiaga o:

• Faʻalogo totoʻa le atoatoa hyperactivity faʻaletonu (ADHD)
• Faʻafitauli o le autoimmune, pei o lupus, rheumatoid arthritis, ma le Sjögren syndrome
• Kanesa o le susu i alii
• Faʻanoanoa
• Aʻoaʻoga le atoatoa, aofia ai ma le dislexia, e aafia ai le faitau
• O se ituaiga seasea tuma taʻua o le extragonadal siama sela tumo
• Faamai o le mama
• Osteoporosis
• Vailaʻau vevela

Faʻafesoʻotaʻi lau tautua pe a fai e le atinaʻe e lou ataliʻi uiga feusuaʻi i le tulaga o le matua. E aofia ai le tupuola o lauulu foliga ma le faʻalolotoina o le leo.

E mafai e se faufautua o kenera ona saunia ni faʻamatalaga e uiga i lenei tulaga ma faʻatonu oe e lagolagoina vaega i lau eria.

47 X-X-Y faʻamaʻi; XXY faʻamaʻi; XXY trisomy; 47, XXY / 46, XY; Faʻamaʻi Mose; Poly-X Klinefelter syndrome

Allan CA, McLachlan RI. Faaletonu Androgen faaletonu. I totonu: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Matutua ma Tamaiti. 7th ed. Filatelefaia, PA: Elsevier Saunders; 2016: mata 139.

Matsumoto AM, Anawalt BD, Faʻamatalaga o gasegase. I: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Tusitusiga o Endocrinology. 14th lomiga. Filatelefia, PA: Elsevier; 2020: chap 19.

Nussbaum RL, McInnes RR, Willard HF. O le chromosomal ma le genomic faʻavae o faʻamaʻi: faʻaletonu o le autosome ma feusuaiga chromosome. I le: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics i Faʻafomai. 8th ed. Filatelefia, PA: Elsevier; 2016: mata 6.