ʻO Klinefelter Syndrome

ʻO Klinefelter Syndrome kahi kūlana kūlohelohe e kū i nā kāne ke loaʻa iā lākou kahi X chromosome keu.

Loaʻa i ka hapanui o nā kānaka 46 chromosome. Loaʻa nā Chromosome i kāu mau genes āpau a me DNA, nā hale kūkulu o ke kino. Hoʻoholo ka 2 chromosome wahine (X a me Y) inā lilo ʻoe i keikikāne a i ʻole i kaikamahine. Loaʻa i nā kaikamahine 2 chromosome X. ʻO nā keikikāne he 1 X a me 1 Y chromosome.

Nā hualoaʻa o Klinefelter Syndrome ke hānau ʻia kahi keikikāne me ka liʻiliʻi o 1 keu X chromosome. Kākau ʻia kēia ma ke ʻano XXY.

Kū ʻo Klinefelter maʻi ma kahi o 1 o 500 a hiki i ka 1,000 mau keikikāne pēpē. ʻO nā wahine hāpai i hope o ka 35 mau makahiki e loaʻa kahi keikikāne me kēia maʻi maʻi ma mua o nā wahine ʻōpio.

ʻO ka hānau ʻole ka hōʻailona maʻamau o Klinefelter Syndrome.

Pākuʻi ʻia paha nā ʻōuli i kekahi o kēia mau mea:

• Nā kino kino kūpono (nā wāwae lōʻihi, kumu pōkole, poʻohiwi e like me ka nui o ka uha)
• Nā umauma nui nui (gynecomastia)
• Hoʻoipo
• Nā pilikia moekolohe
• ʻOi aku ka liʻiliʻi ma mua o ka nui o ka pubic, ka armpit, a me nā lauoho maka
• Hōʻike liʻiliʻi, paʻa paʻa
• Kiʻekiʻena kiʻekiʻe
• Ka liʻiliʻi penis
  
  

Hiki ke ʻike mua ʻia ka maʻi maʻi Klinefelter ke hele mai ke kāne i ka mea lawelawe olakino ma muli o ka hānau ʻole. E hana ʻia paha kēia mau hoʻāʻo:

• Karyotyping (nānā i nā chromosome)
• Heluhelu semen

E hana ʻia nā hoʻokolohua koko e nānā i nā pae hormonone, e like me:

• ʻO Estradiol, kahi ʻano estrogen
• ʻO ka hormona hoʻonāukiuki Follicle
• Loneinizing hōmona
• Testosteroma

Kauoha ʻia e kuhikuhi ʻia ka testosterone therapy. Hiki i kēia ke kōkua:

• Ulu lauoho lauoho
• Hoʻonui i ka helehelena o nā mākala
• Hoʻonui i ka noʻonoʻo
• Hoʻonui i ke ʻano a me ka manaʻo pono iā ʻoe iho
• E hoʻonui i ka ikehu a me ka hoʻokele moekolohe
• Hoʻonui i ka ikaika

ʻAʻole hiki i ka hapa nui o nā kāne me kēia maʻi ke hāpai i wahine wahine. Hiki paha i kahi loea infertility ke kōkua. He mea kōkua paha ke ʻike ʻana i ke kauka i kapa ʻia he endocrinologist.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku ma Klinefelter Syndrome:

• ʻO ka hui no X a me Y Nā ʻano Chromosome - genetic.org
• Waihona Puke o ka Lapaʻau, Nā Genetics Home Reference - medlineplus.gov/klinefelterssyndrome.html

ʻO nā niho nui me kahi ʻili lahilahi ka mea maʻamau i ka maʻi maʻi Klinefelter. Kapa ʻia kēia ʻo taurodontism. Hiki ke ʻike ʻia kēia ma nā kukuna x niho.

Hoʻonui pū ka maʻi ʻo Klinefelter i ka hopena o:

• ʻAʻole pono ka maʻi hyperactivity (ADHD)
• Nā maʻi Autoimmune, e like me lupus, rheumatoid arthritis, a me Sjögren syndrome
• Ka maʻi ʻaʻai umauma i nā kāne
• Kaumaha
• Nā kīnā aʻo, me ka dislexia, kahi e hoʻopili ai i ka heluhelu ʻana
• ʻO kahi ʻano tumo kāhea i kapa ʻia he tumagon cell germ extragonadal
• Maʻi maʻi
• Osteoporosis
• ʻO nā veins varicose

Kāhea i kāu mea hāʻawi inā ʻaʻole hoʻomōhala kāu keikikāne i ke ʻano o ka moekolohe ma ka wā ʻōpio. Pākuʻi ʻia kēia me ka ulu o ka lauoho maka a me ka hohonu o ka leo.

Hiki i kahi kākā'ōlelo genetics ke hāʻawi i ka ʻike e pili ana i kēia ʻano a kuhikuhi iā ʻoe e kākoʻo i nā hui i kou wahi.

47 X-XY maʻi maʻi; Maʻi maʻi XXY; XXY trisomy; 47, XXY / 46, XY; Maʻi Mosic; ʻO Poly-X Klinefelter maʻi

Allan CA, McLachlan RI. Nā maʻi maʻi Androgen. I: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Makua a Pediatric. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2016: chap 139.

Matsumoto AM, Anawalt BD, Nā maʻi testicular. I: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. ʻO Williams Textbook of Endocrinology. 14th ed. Piladelapia, PA: Elsevier; 2020: chap 19.

Nussbaum RL, McInnes RR, Willard HF. ʻO ke kumu chromosomal a me genomic o nā maʻi: nā maʻi o nā autosome a me nā chromosome wahine. I: Nussbaum RL, McInnes RR, Willard HF, hua. Thompson & Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 6.