He aha ka Klinefelter Syndrome? E kamaʻilio maʻalahi kākou e pili ana.

Ma ke ʻano he makua, i kekahi manawa he mau nīnau a hopohopo paha kāu e pili ana i ka ulu ʻana o kāu keiki kāne. Me he mea lā ua ʻoi aku kona kiʻekiʻe ma mua o nā keiki ʻē aʻe? A i ʻole me he mea lā ua lohi ʻo ia i ka wā ʻōpio? A i ʻole he mau pilikia aʻo paha kāna? ʻO ke kumu o kēia mau mea he maʻi genetic paha āu i lohe ʻole ai ma mua. ʻO kekahi o ia ʻano, akā ʻaʻole maʻamau loa, ua kapa ʻia ʻo Klinefelter Syndrome.

I ka pōkole, he aha ka Klinefelter Syndrome?

ʻAe, e lawe kākou i kahi laʻana liʻiliʻi e hoʻomaopopo ai i kēia. E noʻonoʻo ua like ko kākou kino me kahi puke nui me nā ʻōlelo aʻoaʻo he nui. ʻO nā mokuna o kēia puke ka mea a mākou e kapa nei he chromosomes. Aia i loko o kēia mau chromosomes ko kākou mau genes, nā ʻōlelo aʻoaʻo e hoʻoholo ai i nā mea āpau mai ko kākou kiʻekiʻe, ke kala, a me ke ʻano o ka lauoho.

ʻO ka maʻamau, loaʻa i kēlā me kēia cell i loko o ke kino o ke kāne he 46 o kēia mau chromosome. ʻElua o kēia mau mea e hoʻoholo ai i ke kāne. ʻO lākou kekahi chromosome X a me kekahi chromosome Y. Kāhea mākou i kēia he 46, ʻo XY no ka pōkole.

I kēia manawa, ʻokoʻa iki kēia ʻano no kekahi me Klinefelter Syndrome. Loaʻa i kā lākou mau cell kahi chromosome X keu . ʻO ia hoʻi, ʻo ko lākou ʻano genetic he 47, XXY . He maʻi hānau kēia. ʻO ia hoʻi, ua hānau ʻia kekahi me kēia maʻi.

He aha nā hōʻailona o kēia maʻi?

Hiki ke ʻokoʻa loa nā hōʻailona o ka Klinefelter Syndrome mai kēlā kanaka a kēia kanaka. Loaʻa paha i kekahi poʻe kekahi mau hōʻailona, ​​a ʻo kekahi poʻe ʻaʻole paha he mau hōʻailona maopopo. ʻO ia ke kumu i ʻike ʻole ai ka poʻe he nui. Ma keʻano laulā, hiki ke hoʻokaʻawale ʻia kēia mau hōʻailona i ʻelua mau ʻāpana nui.

No ke aha lā kēia e hana nei? He hewa anei kēia no kekahi?

ʻO kēia ka nīnau koʻikoʻi loa. ʻAʻole hewa ka Klinefelter Syndrome ma ka makuahine a i ʻole ka makuakāne. He loli genetic holoʻokoʻa loa ia. Hoʻokumu ʻia ia e kahi hewa i ka wā o ka mahele ʻana o ke kelepona i hana ʻia i ka wā e hāpai ʻia ai ke keiki.

I ka ʻōlelo maʻalahi, aia ʻekolu mau ala nui e hiki ai kēia:

• ʻO ke alo o kahi chromosome X keu i loko o kahi cell sperm.
• ʻO ke alo o kahi chromosome X keu i loko o ka hua manu.
• Loaʻa kahi hewa i ka wā e māhele mua ai nā pūnaewele i loko o ka embryo. Ua kapa ʻia kēia ʻo `(mosaic Klinefelter syndrome)`. ʻO ka mea e hana ʻia ma ʻaneʻi, ʻo kekahi wale nō o nā pūnaewele i loko o ke kino i loaʻa ka chromosome X keu.

Pehea e ʻike ai i kēia maʻi?

Hiki ke ʻike pinepine ʻia kēia ʻano ma nā hihia he nui.

• I ka wā o ka fetal: Hiki ke ʻike ʻia kēia ma ka ulia pōpilikia i ka wā o ka hoʻāʻo genetic (e like me ka amniocentesis) i hana ʻia no kekahi kumu ʻē aʻe.
• I ka wā kamaliʻi: Hiki i ke kauka ke kānalua a kuhikuhi i kahi keiki no nā hoʻokolohua ma muli o ka lohi o ka ulu ʻana (ʻōlelo, lohi o ka hele wāwae) a i ʻole nā ​​​​pilikia aʻo.
• I ka wā ʻōpiopio: Hiki ke ʻike ʻia ma muli o nā ʻano ʻē aʻe (e like me ka ulu ʻana o ka umauma, ka emi ʻana o ka ulu ʻana o ka lauoho) i ka wā ʻōpio.
• I ka wā makua:Hoʻomaopopo pinepine ʻia kēia maʻi i ka wā makua ke hana ʻia nā hoʻokolohua hānau ʻole .

ʻO ka hoʻāʻo nui e hōʻoia i kēia he hoʻāʻo karyotype . He hoʻāʻo koko maʻalahi kēia. Hiki iā ia ke nānā i ka helu pololei a me ke ʻano o nā chromosomes i loko o kāu a i ʻole nā ​​​​​​kelepona o kāu keiki.

Inā ʻike ʻia kekahi keiki me kēia ʻano, ʻōlelo pū nā kauka i ka hoʻāʻo neuropsychological e hoʻomaopopo i ko lākou hiki ke aʻo a me ke kūlana noʻonoʻo.

He aha nā lāʻau lapaʻau? Hiki ke ho'ōla ʻia kēia?

No ka mea, he maʻi hoʻoilina ka Klinefelter Syndrome, ʻaʻole hiki ke "ho'ōla loa ʻia." Eia nō naʻe , hiki ke hoʻokele pono i nā hōʻailona a ola i kahi ola maʻamau, hauʻoli, a olakino hoʻi. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻokele ʻana i nā hōʻailona.

1. Hoʻōla hormone (Testosterone Replacement Therapy)

He haʻahaʻa nā pae o ka testosterone hormone kāne i loko o ko lākou kino o ka poʻe me kēia maʻi. No laila, paipai nā kauka e hāʻawi i ka testosterone ma waho i ka makahiki kūpono. Hiki ke loaʻa kēia ma ke ʻano o nā inikini, gels, a i ʻole nā ​​​​​​patch.

Nā pono o kēia lāʻau lapaʻau:

• Hoʻoikaika i nā iwi.
• Ka ulu ʻana o nā ʻiʻo.
• Ka ulu ʻana o ka lauoho maka a me ke kino.
• Ka hoʻohōhonu ʻana o ka leo.
• Hoʻomaikaʻi i ke kūlana noʻonoʻo a me ka hilinaʻi iā ʻoe iho.
• Hoʻonui ʻia ka makemake moekolohe.

2. Nā ʻano lapaʻau like ʻole (Therapies)

Ma muli o nā pono o ke keiki, hiki ke ʻimi ʻia ke kōkua mai nā mea hoʻoponopono like ʻole.

• Nā kauka ʻōlelo: Kōkua me nā pilikia ʻōlelo.
• Nā mea hoʻōla kino: Kōkua i ka hoʻoikaika ʻana i nā ʻiʻo a hoʻomaikaʻi i ke kaulike.
• Nā mea hoʻōla hana: Kōkua i ka hoʻomohala ʻana i nā mākau e pono ai e hana maʻalahi i nā hana o kēlā me kēia lā.
• ʻŌlelo aʻoaʻo noʻonoʻo: Hāʻawi i ke kākoʻo i ke keiki a me ka ʻohana e hoʻoponopono ai i ke kaumaha a me ka hopohopo e kū mai ana.

3. ʻoki kino

ʻAʻole pono kēia i ka hapa nui o nā hihia. Eia nō naʻe, inā ʻike ke kanaka i ka ʻeha nui ma muli o ka ulu ʻana o ka umauma (gynecomastia) ma hope o ka wā ʻōpio, hiki ke hana ʻia ke ʻoki ʻana i ka wā makua e wehe i nā ʻiʻo keu.

Āhea ʻoe e ʻike ai i kāu kauka?

Inā he makua ʻoe a ʻike ʻoe i kekahi lohi a i ʻole nā ​​​​​​mea ʻē aʻe i ka ulu ʻana o kāu keiki, e kamaʻilio me kāu pediatrician e pili ana i ia mea.

• Inā kolo, hele wāwae, a kamaʻilio paha kāu keiki ma hope o nā keiki ʻē aʻe o ka makahiki like.
• Inā hōʻike kāu keiki kāne i nā ʻano kino ʻē aʻe (hoʻonui ʻia ka lōʻihi o ka wāwae, hoʻonui ʻia ke kiʻekiʻe), a i ʻole he mau pilikia aʻo a i ʻole ka hana.

Inā he kanaka makua ʻoe a ke pilikia nei ʻoe i ka hāpai ʻana a i ʻole he mau hōʻailona ʻē aʻe i ʻōlelo ʻia ma luna, e kamaʻilio pono me kāu kauka e pili ana i ia mea. ʻAʻohe kumu e makaʻu ai a hilahila paha.

He mea maʻamau ka makaʻu a me ka haʻalulu ke lohe ʻoe e pili ana i kahi maʻi genetic e like me Klinefelter Syndrome. Akā e hoʻomanaʻo, me ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ka mālama ʻana, hiki iā ʻoe ke ola me ka holomua me kēia maʻi.