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October 10, 2025
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ʻO ka syndroma Turner kahi kūlana genetic e pili wale ana i nā wahine, e kū mai ana ke nalowale paha kekahi o nā kromosoma X a pau a ʻāpana paha. Kū mai kēia ʻokoʻa chromosomal ma kahi o 1 i 2,000 a 2,500 mau hānau wahine, e hoʻoliʻiliʻi ana i ka mea maʻamau akā ʻaʻole maʻamau loa.
Hoʻopili ka kūlana i nā ʻano like ʻole o ka hoʻomohala a me ke olakino i loko o ke ola o ke kanaka. ʻOiai ke hōʻike nei ka syndroma Turner i nā pilikia kūikawā, nui nā wāhine me kēia kūlana e alakaʻi ana i nā ola piha, olakino, a holomua me ka mālama lapaʻau kūpono a me ke kākoʻo.
Kū mai ka syndroma Turner ke hānau ʻia ka wahine me hoʻokahi kromosoma X piha wale nō ma kahi o nā kromosoma X ʻelua maʻamau. I kekahi manawa, ʻāpana paha o ka lua o ka kromosoma X i nalowale a hoʻololi ʻia ma nā ʻano like ʻole.
Hāpai kāu mau kromosoma i nā ʻōlelo kuhikuhi genetic e hoʻoholo ai i ke ʻano o ka hoʻomohala a me ka hana ʻana o kou kino. ʻOiai he ʻelua mau kromosoma X (XX) maʻamau nā wahine, ʻo ka loaʻa ʻana o hoʻokahi kromosoma X piha wale nō e hoʻopilikia i ka hoʻomohala maʻamau ma nā ʻano kūikawā. Hoʻopili nui ka mea genetic i nalowale i ka ulu ʻana, ka wā ʻōpio, a me kekahi mau ʻōnaehana kino.
Aia kēia kūlana mai ka hānau ʻana mai, ʻoiai ʻaʻole paha e ʻike ʻia a hiki i ka wā ma hope o ke kamaliʻi a i ʻole ka wā makua. Hiki ke ʻokoʻa loa ka nui o nā hōʻailona mai ke kanaka a i ke kanaka, ma muli o ka nui o ka mea genetic i nalowale a me nā sela i hoʻopilikia ʻia.
Hiki i nā hōʻailona o ka syndroma Turner ke ʻike ʻia ma nā ʻanuʻu like ʻole o ke ola, a ʻaʻole nā kānaka a pau e ʻike i nā hōʻailona āpau. Hoʻomaka pinepine nā hōʻailona ke ʻike ʻia i ka wā kamaliʻi a me ka wā ʻōpio ke ʻike ʻia nā ʻokoʻa ulu a me ka hoʻomohala.
I ka wā pēpē a me ke kamaliʻi mua, hiki iā ʻoe ke ʻike:
I ka wā e ulu ai nā keiki me ka maʻi Turner syndrome, hiki ke ulu hou aku nā hōʻailona. Hoʻopili pinepine kēia i ka pōkole o ke kino, nā pilikia aʻo me ka makemakika a me nā manaʻo wahi, a me nā pilikia pilikanaka i ka heluhelu ʻana i nā hōʻailona nonverbal.
I nā makahiki ʻōpio, ʻo ka hōʻailona i ʻike nui ʻia ʻo ia ka hoʻopanee ʻia a i ʻole ka nele o ka puberty. ʻAʻole ulu ka nui o nā kaikamāhine me ka maʻi Turner syndrome i nā ʻano wahine lua e like me ka ulu ʻana o ka umauma a i ʻole ka menstruation me ka ʻole o ka lāʻau hormone. Hana kēia no ka mea ʻaʻole hana maʻamau kā lākou ovaries.
Hiki i kekahi mau hōʻailona maʻamau ʻole ke komo pū me ka hāʻule ʻana o nā eyelids, ka ihu haʻahaʻa, a i ʻole nā hiʻohiʻona helehelena kūikawā. Eia naʻe, he helehelena maʻamau loa ka nui o nā kānaka me ka maʻi Turner syndrome.
He mau ʻano like ʻole ka maʻi Turner syndrome ma muli o ke ʻano chromosomal kūikawā i loaʻa i loko o nā sela o ke kanaka. Hiki i ke ʻano ke hoʻopili i nā hōʻailona e ʻike ai kekahi a me ka nui o ko lākou ʻano.
ʻO ke ʻano maʻamau loa i kapa ʻia ʻo ka maʻi Turner syndrome classic a i ʻole monosomy X. I kēia ʻano, hoʻokahi wale nō chromosome X i loko o kēlā me kēia sela o ke kino ma mua o ʻelua. Hoʻokumu pinepine kēia i nā hōʻailona i ʻike nui ʻia a hoʻopili i kahi 45% o nā kānaka me ka maʻi Turner syndrome.
Hana ʻia ka maʻi Turner syndrome mosaic i ka wā e loaʻa ai i kekahi mau sela hoʻokahi chromosome X ʻoiai he ʻelua mau chromosome X a i ʻole nā hoʻololi ʻē aʻe i nā mea ʻē aʻe. Loaʻa pinepine i nā kānaka me ka maʻi Turner syndrome mosaic nā hōʻailona palupalu no ka mea hana maʻamau kekahi o kā lākou mau sela. Hoʻokumu kēia i kahi 15-25% o nā hihia.
ʻO nā ʻano ʻē aʻe i emi iki ka maʻamau e pili ana i ka holoi ʻana i ka hapa a i ʻole nā hoʻololi ʻano i hoʻokahi chromosome X. Hiki i kēia mau ʻano like ʻole ke hoʻokumu i nā hui like ʻole o nā hōʻailona, a he nui nā kānaka e loaʻa paha i nā hōʻailona māmā loa e hele ʻole i ka ʻike ʻia no nā makahiki.
Hoʻokumu ʻia ka maʻi Turner e kahi hewa kūpono ʻole i ka wā o ka hoʻokumu ʻana i nā cell hanau a i ʻole ka hoʻomohala ʻana o ka embryonic mua. Hana kēia loli chromosomal ma ka manawa kūpono ʻole a ʻaʻole i hana ʻia e kekahi mea i hana a i ʻole ʻaʻole i hana ʻia e nā mākua.
Hiki i ka hewa ke hana ma nā ʻano he nui. I kekahi manawa, hana ʻia kahi hua manu a i ʻole kahi cell sperm me ka chromosome X ʻole, a i ʻole ua nalowale ka chromosome X i nā wā mua ma hope o ka hāpai ʻana. I nā hihia mosaic, hana ʻia ka nalowale chromosomal ma hope i ka wā o ka hoʻomohala ʻana o ka embryonic, e hoʻopili wale ana i kekahi mau cell.
ʻAʻole hoʻoilina ʻia kēia kūlana mai nā mākua ma ke ʻano kuʻuna. ʻO ia ka mea a nā kauka e kapa ai he “de novo” a i ʻole ka mutation hou e hana kūʻokoʻa. ʻAʻole pilikia nā mākua i loaʻa i kahi keiki me ka maʻi Turner i ka loaʻa ʻana o kahi keiki ʻē aʻe me ke kūlana.
ʻAʻole hoʻonui ka makahiki makua kiʻekiʻe i ka pilikia o ka maʻi Turner, ʻaʻole e like me kekahi mau kūlana chromosomal ʻē aʻe. Hiki ke hana i ke kūlana i nā hāpai ʻana i kēlā me kēia makahiki makua, ʻoiai he mea kūpono ke hoʻomaopopo ʻia he nui nā hāpai ʻana me ka maʻi Turner e pau i ka miscarriage.
Pono ʻoe e kūkākūkā me kahi mea lawelawe olakino inā ʻike ʻoe i nā hōʻailona e hōʻike paha i ka maʻi Turner, ʻoi aku hoʻi nā hoʻolōʻihi ulu a i ʻole nā ʻokoʻa hoʻomohala. Hiki i ka ʻike mua ke kōkua i ka hōʻoia ʻana i ka nānā ʻana a me ka mālama kūpono.
I ka wā kamaliʻi, e noʻonoʻo e ʻike i ke kauka inā he pōkole loa kāu kaikamahine ma mua o kāna mau hoa, loaʻa iā ia nā maʻi pepeiao pinepine, a i ʻole e hōʻike i nā ʻano kino maʻamau ʻole e like me ka ʻāʻī pūnaewele a i ʻole ka pehu ʻana i nā lima a me nā wāwae. Hiki i nā pilikia aʻo, ʻoi aku hoʻi me ka makemakika, ke lilo i hōʻailona mua.
No nā ʻōpio, ʻo ka hoʻopanee ʻana o ka puka ʻana mai o ka pubescence pinepine ka hōʻailona mua maopopo e hoʻoulu ai i ka loiloi lapaʻau. Inā ʻaʻole i hoʻomaka kahi kaikamahine e hoʻomohala i nā umauma a i ʻole e hoʻomaka i ka menstruation ma ka makahiki 13-14, he mea nui ke ʻimi i ka ʻōlelo aʻo lapaʻau.
ʻO nā mākua e manaʻo nei he hiki ke loaʻa iā lākou ka maʻi Turner syndrome i ʻike ʻole ʻia e pono ke ʻike i kahi mea lawelawe ola kino, ʻoi aku inā he pōkole ko lākou kiʻekiʻe, nā pilikia hānau ʻana, a i ʻole kekahi mau pilikia olakino e like me nā kīnā o ka naʻau a i ʻole nā kidney. Loaʻa i kekahi poʻe kā lākou hōʻailona mua i ka wā makua ke noiʻi nei i nā pilikia hānau ʻana.
Loaʻa kūlohelohe ka maʻi Turner syndrome a ʻaʻohe ona mau kumu pilikia kuʻuna e like me nā kūlana lapaʻau ʻē aʻe he nui. Hana kūlohelohe ka hewa chromosomal e hoʻokumu ai i ka maʻi Turner syndrome i ka wā o ka māhele ʻana o nā cell.
ʻAʻole like me kekahi mau kūlana genetic, ʻaʻole pili ka maʻi Turner syndrome i ka makahiki makua wahine a makua kāne kiʻekiʻe. Hiki i nā wāhine o kēlā me kēia makahiki ke loaʻa i kahi pēpē me ka maʻi Turner syndrome, a noho mau ka pilikia ma kahi pae like ʻole ma nā makahiki hānau a pau.
ʻAʻole hoʻi e hoʻonui ka mōʻaukala ʻohana i ka pilikia o ka maʻi Turner syndrome. ʻOiai ʻaʻole ia i hoʻoilina ʻia ma ke ʻano maʻamau, ʻaʻole e hoʻolilo ka loaʻa ʻana o kahi lālā ʻohana me ka maʻi Turner syndrome i ka nui o ka loaʻa ʻana o nā lālā ʻohana ʻē aʻe i ke kūlana.
ʻO ka mea kūpaʻa wale nō ka wahine kino, ʻoiai ʻo ka maʻi Turner syndrome wale nō e pili ana i nā kānaka wahine genetic. Eia naʻe, ʻaʻole kēia he
Pono kēia mau kūlana naʻau i ka nānā mau ʻana i ke ola holoʻokoʻa, ʻoiai e pono paha kekahi i ka hana ʻokiʻoki a i ʻole ka mālama lapaʻau mau.
Hiki mai nā pilikia o ka puʻupaʻa a me ka ʻōnaehana mimi ma kahi o hoʻokahi hapakolu o nā kānaka me ka Turner syndrome. Hiki i kēia ke komo i nā ʻokoʻa kūkulu i ke ʻano a i ʻole ke kūlana o ka puʻupaʻa, a i ʻole nā pilikia me ke ʻano o ka mimi mai nā puʻupaʻa. ʻAʻole nui nā pilikia puʻupaʻa e hoʻoulu i nā hōʻailona akā pono e nānā.
Hoʻomohala pinepine nā pilikia olakino iwi, me ka osteoporosis (iwi nāwaliwali) a me ka hoʻonui ʻia o ka pilikia o nā haki. Hana ʻia kēia ma kahi hapa ma muli o ka nele o ka estrogen a pono e hoʻolohe i ka lawe ʻana i ka calcium a me ka hoʻoikaika kaumaha.
ʻO nā pilikia liʻiliʻi akā koʻikoʻi hiki ke komo i nā pilikia thyroid, maʻi diabetes, nā pilikia ate, a me kekahi mau kūlana autoimmune. Kūleʻa nā nānā lapaʻau maʻamau e hopu i kēia mau pilikia i ka wā mua i ka wā maʻalahi loa ke mālama.
Hōʻoia ʻia ka Turner syndrome ma o kahi hōʻoia koko i kapa ʻia ʻo ka chromosomal analysis a i ʻole karyotyping, ka mea e nānā i nā chromosomes i loko o kāu mau cell. Hiki i kēia hōʻoia ke hoʻoholo pono inā aia ka Turner syndrome a ʻike i ke ʻano.
Hoʻomaka pinepine ke kaʻina hana hōʻoia ke ʻike kekahi mea mālama ola i nā hōʻailona kino a i ʻole nā ʻano hoʻomohala e hōʻike ana i ka Turner syndrome. E hoʻomaka paha kāu kauka me kahi nānā kino a nānā i kāu moʻolelo lapaʻau a me ka ulu ʻana.
I kekahi manawa, hōʻoia ʻia ka Turner syndrome ma mua o ka hānau ʻana ma o ka hōʻoia prenatal. Hiki i nā ultrasound ke hōʻike i kekahi mau hiʻohiʻona e like me nā hemahema naʻau a i ʻole ka wai nui, e alakaʻi ana i ka hōʻoia genetic. Eia naʻe, nui nā hihia i hōʻoia ʻia i ka wā kamaliʻi a i ʻole ka wā ʻōpio ke ʻike ʻia nā pilikia ulu a i ʻole hoʻomohala.
Hiki ke pono ʻia nā hoʻokolohua hou aku e nānā i nā pilikia olakino e pili ana ma hope o ka ʻike ʻia ʻana o ka maʻi Turner. ʻO nā mea maʻamau kēia e komo pū ai nā ultrasound naʻau, nā kiʻi o nā puʻupaʻa, nā hoʻokolohua lohe, a me ka hana koko e nānā i ka hana thyroid a me nā ʻōnaehana kino ʻē aʻe.
ʻO ka lāʻau lapaʻau no ka maʻi Turner e kau nui ana i ka mālama ʻana i nā hōʻailona a me ka pale ʻana i nā pilikia ma o ka hui ʻana o ka lāʻau hormone, ka nānā mau ʻana, a me ka mālama kōkua. ʻO ka papahana lāʻau lapaʻau kūikawā e hilinaʻi ana i nā hōʻailona i loaʻa a me ko lākou koʻikoʻi.
Hoʻomaopopo pinepine ʻia ka lāʻau ulu hormone no nā keiki me ka maʻi Turner e pōkole loa ana no ko lākou mau makahiki. Hiki i kēia lāʻau lapaʻau ke kōkua i ka hoʻonui ʻana i ke kiʻekiʻe o ka pākeke hope loa, ʻoiai e pono ai nā inikini maʻamau i nā makahiki he nui. ʻO ka hoʻomaka ʻana i ka lāʻau lapaʻau ma mua i ka wā kamaliʻi e alakaʻi pinepine ana i nā hopena maikaʻi aʻe.
Hoʻomaka pinepine ʻia ka lāʻau hoʻololi estrogen i nā makahiki ʻōpio e hoʻoulu i ka puberty maʻamau a me ka hoʻomohala ʻana o nā ʻano wahine lua. Kōkua kēia lāʻau hormone i ka hoʻomohala ʻana o nā umauma, ka menstruation, a me ke olakino iwi. Hoʻolālā pono ʻia ka manawa a me ka nui e hoʻohālikelike i ka puberty maoli e like me ka hiki.
ʻO ka nānā ʻana i ka naʻau a me ka lāʻau lapaʻau he mau ʻāpana nui ia o ka mālama mau. Ma muli o nā pilikia naʻau kūikawā i loaʻa, hiki i ka lāʻau lapaʻau ke komo pū me nā lāʻau lapaʻau, nā nānā maʻamau me ka cardiologist, a i ʻole nā kaʻina hana ʻoki e hoʻoponopono i nā ʻano kūkulu.
Hiki i ke kākoʻo hoʻonaʻauao ke kōkua i ka hoʻoponopono ʻana i nā ʻokoʻa aʻo, ʻoi aku hoʻi me ka makemakika a me nā manaʻo wahi. He nui nā kānaka me ka maʻi Turner e pōmaikaʻi mai ka aʻo kūikawā a i ʻole nā hoʻoponopono hoʻonaʻauao e hiki ai i ko lākou hiki piha ma ke kula.
ʻO ka mālama ʻana i ka maʻi Turner ma ka home, ʻo ia ka hana ʻana i kahi wahi e kākoʻo ai i ka ulu olakino a me ka hoʻoponopono ʻana i nā pono kūikawā. Kūpono nā hana i kēlā me kēia lā a me ke kamaʻilio ākea e pili ana i ke kūlana e kōkua i ka hoʻoikaika ʻana i ka hilinaʻi a me ke kūʻokoʻa.
Liʻiliʻi loa ka mālama ʻana i ke ola olakino no nā poʻe me ka maʻi Turner. Kūpono ka hoʻoikaika kino maʻamau no ke olakino o nā iwi, ka hana o ka naʻau, a me ka maikaʻi holoʻokoʻa. Hiki i nā hana e hāpai ana i ke kaumaha e like me ka hele wāwae, ka hula, a i ʻole nā haʻuki ke kōkua nui i ka ikaika o nā iwi.
Kōkua ka meaʻai maikaʻi i ka ulu a me ka hoʻomohala ʻana, ʻoi aku hoʻi i ka wā kamaliʻi a me ka wā ʻōpiopio. Kōkua ka meaʻai kaulike piha i ka calcium a me ka huaora D i ka pale ʻana i ke olakino o nā iwi, ʻoiai ka mālama ʻana i ke kaumaha olakino e hōʻemi i ke kaumaha ma ka naʻau a me nā ʻōnaehana ʻē aʻe.
He mea nui ka hoʻokō ʻana i ka lāʻau lapaʻau ke kuhikuhi ʻia nā lāʻau hormone. ʻO ka hoʻonohonoho ʻana i nā ʻōnaehana hoʻomaopopo a me ka hoʻomaopopo ʻana i ke koʻikoʻi o ka mālama mau e kōkua i ka hōʻoia ʻana i nā hopena maikaʻi loa.
Hiki i ke kākoʻo manaʻo a me ka ʻōlelo aʻo ke kōkua i ka hoʻoponopono ʻana i nā pilikia hilinaʻi iā ia iho, nā pilikia pilikanaka, a i ʻole nā hopohopo e pili ana i ke ʻano a me ka hānau keiki. Loaʻa i nā ʻohana he nui nā hui kākoʻo e kōkua i ka hoʻopili ʻana me nā poʻe ʻē aʻe e hoʻomaopopo i nā ʻaoʻao kūikawā o ke ola ʻana me ka maʻi Turner.
ʻO ka hoʻomākaukau ʻana no nā hālāwai me nā kauka e kōkua i ka hōʻoia ʻana e loaʻa iā ʻoe ka pono nui loa mai kāu manawa me nā mea lawelawe olakino. ʻO ka mālama ʻana i nā moʻolelo i hoʻonohonoho pono ʻia a me ka hoʻomākaukau ʻana i nā nīnau ma mua e hana i nā hālāwai ʻoi aku ka hua.
E lawe mai i ka papa inoa piha o nā lāʻau lapaʻau i kēia manawa, me nā nui a me ka manawa. Hoʻopili kēia i nā lāʻau lapaʻau kuhikuhi, nā lāʻau lapaʻau ma luna o ka papa kūʻai, a me nā mea hoʻohui. E lawe mai pū i nā moʻolelo o nā hopena hoʻokolohua hou, nā pakuhi ulu, a me nā hōʻailona āu i ʻike ai.
E kākau i nā nīnau a i ʻole nā manaʻo kūikawā ma mua o kou kūkā. ʻO nā kumuhana maʻamau paha e komo pū ai nā ʻano ulu, nā hōʻailona hoʻomohala, nā koho mālama, a i ʻole nā manaʻo e pili ana i nā pilikia. Mai kānalua e nīnau e pili ana i kekahi mea e hopohopo ai ʻoe.
E noʻonoʻo e lawe mai i kahi hoa ʻohana a i ʻole hoaaloha no ke kākoʻo, ʻoi aku hoʻi no nā kūkā nui a i ʻole i ka wā e kūkākūkā ai i nā loli mālama. Hiki iā lākou ke kōkua i ka hoʻomanaʻo ʻana i ka ʻike i kūkākūkā ʻia a hāʻawi i ke kākoʻo manaʻo.
E mākaukau e kūkākūkā i kāu hana i kēlā me kēia lā, kekahi mau hōʻailona a i ʻole nā loli āu i ʻike ai, a pehea kou manaʻo. Pono kāu hui olakino i kēia ʻike e hāʻawi i ka mālama maikaʻi loa.
He kūlana kino hoʻoilina hiki ke mālama ʻia ka maʻi Turner e pili ana i nā wahine, a me ka mālama lapaʻau kūpono a me ke kākoʻo, hiki i ka hapa nui o nā kānaka me ka maʻi Turner ke ola i ke ola olakino a me ka hoʻokō. ʻO ka ʻike mua a me ka mālama kūpono e hana i kahi ʻokoʻa nui i nā hopena.
ʻO ka mea nui loa e hoʻomanaʻo ai ʻo ia ka hoʻopili ʻana o ka maʻi Turner i kēlā me kēia kanaka. ʻOiai aia nā hōʻailona maʻamau a me nā pilikia hiki ke loaʻa, ʻokoʻa ka ʻike o kēlā me kēia kanaka. ʻAʻole paha ka mea e hana ana no kekahi kanaka ka ʻano maikaʻi loa no kekahi.
He mea nui ka nānā ʻana i ke olakino maʻamau a me ka mālama ʻana i nā mālama no ka pale ʻana i nā pilikia a me ka mālama ʻana i ke olakino maikaʻi. ʻO kēia ka hana pū ʻana me kahi hui o nā loea e maopopo i ka maʻi Turner a hiki ke hāʻawi i ka mālama piha.
He kuleana nui ka kākoʻo mai ka ʻohana, nā hoaaloha, a me nā mea hoʻolako olakino i ka kōkua ʻana i nā kānaka me ka maʻi Turner e ulu. Loaʻa i nā kānaka he nui me kēia kūlana ko lākou mau pahuhopu hoʻonaʻauao, ʻoihana, a pilikino me ke kākoʻo kūpono a me ka hoʻoholo.
ʻO ka hapa nui o nā kānaka me ka maʻi Turner syndrome he mau pilikia hānau keiki ma muli o ka hana ʻole o nā ovaries, akā hiki ke hāpai keiki i kekahi mau hihia. Ma kahi o 2-5% o nā wāhine me ka maʻi Turner syndrome hiki ke hāpai keiki maoli. No nā poʻe ʻē aʻe, hiki i nā ʻenehana hoʻohua keiki kōkua e like me ka hāʻawi ʻana i nā hua manu ke hiki ai ke hāpai keiki me ke kākoʻo lapaʻau kūpono.
ʻAʻole he naʻauao kīnā ka maʻi Turner syndrome. ʻO ka hapa nui o nā kānaka me ka maʻi Turner syndrome he naʻauao maʻamau ko lākou, ʻoiai paha he mau ʻokoʻa aʻo kūikawā, ʻoi aku hoʻi me ka makemakika, nā manaʻo ākea, a me nā hōʻailona pilikanaka. Hiki ke hoʻoponopono ʻia kēia mau pilikia me ke kākoʻo hoʻonaʻauao kūpono.
Me ka mālama lapaʻau kūpono, hiki i nā kānaka me ka maʻi Turner syndrome ke loaʻa ka lōʻihi o ke ola maʻamau a kokoke paha i ka maʻamau. ʻO ke kī ka nānā mau ʻana a me ka mālama ʻana i nā pilikia hiki ke loaʻa, ʻoi aku hoʻi nā pilikia naʻau. Nui nā wāhine me ka maʻi Turner syndrome e ola ana i nā ola piha a olakino maikaʻi a hiki i ko lākou mau makahiki ʻelemakule.
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