E aʻo wale kākou e pili ana i ka Turner Syndrome, ka mea e hoʻopilikia ai i kāu kaikamahine.

Ke manaʻo nei ʻoe i kekahi manawa ua pōkole kāu kaikamahine ma mua o nā keiki ʻē aʻe? ʻOiai ua hiki aku nā hoaaloha ʻē aʻe i kona mau makahiki i ka wā ʻōpio, ʻaʻole naʻe kāu kaikamahine e hōʻike ana i kēlā mau hōʻailona? He mea maʻamau loa ia no ka makuahine a i ʻole ka makuakāne ke makaʻu iki a hopohopo e pili ana i nā mea e like me kēia. ʻO ka hapa nui o ka manawa, hiki i kēia mau mea ke lilo i mau mea maʻamau. Eia naʻe, i kekahi manawa ʻo ke kumu o kēia he ʻano genetic kūikawā i kapa ʻia ʻo 'Turner Syndrome' e pili wale ana i nā kaikamahine. ʻAʻole pono mākou e makaʻu ke lohe mākou i kēia inoa. I kēia lā, e kamaʻilio maʻalahi a maopopo mākou e pili ana i ke ʻano o kēia, no ke aha e hana ʻia ai, a me nā mea hiki ke hana ʻia e pili ana i ia mea.

I ka ʻōlelo maʻalahi, he aha ka Turner Syndrome?

He maʻi hoʻoilina hānau ʻia ʻo Turner syndrome e pili wale ana i nā kaikamahine. ʻAʻole ia he mea laha.

E hoʻi kākou i ka biology e hoʻomaopopo i kēia. I ka ʻōlelo maʻalahi, aia i loko o kēlā me kēia cell i loko o ko kākou kino nā 'chromosomes' e hoʻoholo ai i kā kākou ʻike genetic (ko kākou kiʻekiʻe, kala, helehelena, a pēlā aku). ʻO ka maʻamau, he ʻelua chromosomes sex i kapa ʻia ʻo X (XX) i loko o kahi cell wahine. Hoʻokahi X a hoʻokahi Y (XY) i loko o kahi cell kāne.

ʻO ka maʻi Turner kahi kūlana i nele ai kahi keiki wahine i kekahi o nā chromosomes X ʻelua a i ʻole kekahi hapa. He hanana kaulele kēia e kū mai ana i ka wā hāpai a i ʻole i ka wā embryonic. He mea nui e hoʻomanaʻo ʻaʻole kēia ma muli o kekahi hewa o ka makuahine a i ʻole ka makuakāne .

Hiki i kēia maʻi ke hoʻopilikia i kēlā me kēia keiki ma ke ʻano ʻokoʻa, akā aia ʻelua mau hōʻailona maʻamau:

1. ʻOi aku ka pōkole ma mua o nā poʻe ʻē aʻe (kiʻekiʻe pōkole)

2. Nā ovaries hana haʻahaʻa , ʻo ia hoʻi, ua pilikia ka wā ʻōpio a me ka hiki ke hānau keiki.

He aha nā hōʻailona? Pehea mākou e ʻike ai i kēia?

Hōʻike kekahi mau keiki i kēia mau hōʻailona i ka wā hānau. No kekahi poʻe, ʻike mālie ʻia nā hōʻailona i ka wā kamaliʻi. I kekahi manawa, ʻaʻole kānalua ʻia kēia a hiki i ka wā makua. No laila, he mea nui loa ka makaʻala i kēia mau hōʻailona.

I kekahi manawa, hiki i nā hoʻokolohua prenatal, e like me ka ultrasound scan i ka wā hāpai, ke hāʻawi i nā hōʻailona. No ka laʻana, inā ʻike ka pēpē he wai ma hope o ko lākou ʻāʻī, a inā he pilikia me ko lākou puʻuwai a i ʻole nā ​​​​puʻupaʻa, kānalua paha nā kauka.

Aia kekahi mau ʻano nui o ka maʻi Turner?

ʻAe, aia ʻelua ʻano nui ma muli o ke ʻano o ka hanana ʻana o kēia kūlana.

Monosomy X

ʻO kēia ke ʻano maʻamau. ʻO kēia kahi e nalowale loa ai kekahi chromosome X mai kēlā me kēia cell i loko o ke kino o ke keiki. ʻO ka maʻamau, hana ʻia kēia e kahi kīnā maʻamau i ka hua manu o ka makuahine a i ʻole ka sperm o ka makuakāne i ka wā hāpai. ʻOi aku ka ʻike ʻia o nā hōʻailona ma kēia ʻano.

ʻO ka maʻi Mosaic Turner

E like me ka manaʻo o ka huaʻōlelo 'mosaic', ʻo ka mea e hana ʻia ma ʻaneʻi , ʻo ia ka nalowale ʻana o kahi hapa a i ʻole ka hapa āpau o ka chromosome X i kekahi mau pūnaewele o ke kino o ke keiki.Loaʻa i nā ʻāpana ʻē aʻe nā chromosomes maʻamau (XX). E noʻonoʻo i ko mākou kino e like me ka pā i hana ʻia me nā piliki liʻiliʻi (nā ʻāpana). I ke kūlana mosaic, ʻo kekahi wale nō o nā piliki i loaʻa kēia ʻokoʻa. He maʻamau nā mea ʻē aʻe. He hewa maʻamau kēia e kū mai ana i ka wā o ka mahele ʻana o nā ʻāpana i ka wā o ka embryonic. Hiki i kēia ke hana i nā hōʻailona liʻiliʻi, a hiki nō hoʻi ke paʻakikī iki ke ʻike.

He aha nā pilikia olakino ʻē aʻe (nā pilikia) e hiki ke kū mai ma muli o kēia kūlana?

ʻOi aku ka nui o ka pilikia o nā keiki me ka Turner syndrome i kekahi mau pilikia olakino, no laila he mea nui e hana i nā hoʻokolohua lapaʻau maʻamau.

Pehea e ʻike ai ke kauka i kēia?

Hiki i ke kauka ke ʻike i kēia maʻi ma mua a ma hope paha o ka hānau ʻana o ka pēpē.

Ma mua o ka hānau ʻana:

• NIPT (Noninvasive prenatal testing): He ʻano kēia e hoʻāʻo ai i ka ʻike genetic o ka pēpē me ka hoʻohana ʻana i kahi hāpana koko i lawe ʻia mai ka makuahine hāpai.
• ʻO ke scan Ultrasound: Hiki ke kānalua ʻia kēia inā hōʻike ka scan i nā hōʻailona o nā pilikia me ka puʻuwai o ka pēpē, nā puʻupaʻa, a i ʻole ka hōʻiliʻili ʻana o ka wai ma hope o ka ʻāʻī.
• Amniocentesis: Hiki ke hōʻoia ʻia kēia kūlana 100% ma ka lawe ʻana i kahi hāpana o ka wai amniotic e hoʻopuni ana i ka pēpē a hana i kahi hoʻāʻo genetic (karyotype analysis) ma nā cell o ka pēpē.

Ma hope o ka hānau ʻana:

Ma hope o ka hānau ʻana o ka pēpē, inā manaʻo ke kauka he hewa kekahi mea ma muli o nā hōʻailona o ka pēpē, e kauoha lākou i kahi hoʻāʻo koko i kapa ʻia ʻo 'karyotyping.' Pili kēia i ka lawe ʻana i kahi hāpana koko a me ka nānā ʻana i nā chromosomes ma lalo o kahi microscope e hoʻoholo pono ai inā ua nalowale kahi chromosome X, ma ke ʻano holoʻokoʻa a hapa paha.

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

ʻO ka mea mua, no ka mea, he maʻi hoʻoilina ka Turner syndrome, ʻaʻole hiki ke ho'ōla loa ʻia.

ʻO ka mea nui, ʻo ka mālama ʻana he kau ʻia ma luna o nā hormones.

• ʻO ka lāʻau lapaʻau hormone ulu kanaka: He mea nui loa kēia lāʻau lapaʻau no ka hoʻonui ʻana i ke kiʻekiʻe o ke keiki. He inikini hormone kēia i hāʻawi ʻia i kēlā me kēia lā. Inā hoʻomaka ʻia kēia lāʻau lapaʻau i ka wā ʻōpiopio, ʻo ia hoʻi, i ka wā e ʻike ʻia ai ua lohi ka ulu ʻana, hiki i ke keiki ke hoʻokō i kahi kiʻekiʻe maikaʻi.
• Lapaʻau Estrogen: ʻAʻole hana maoli ka nui o nā kaikamahine me ka maʻi Turner i ka estrogen, no laila hāʻawi pinepine ʻia lākou i ka estrogen mai nā kumu waho a puni ka wā ʻōpio (ma kahi o 11-12 mau makahiki). ʻO kēia ke kumu o nā hōʻailona o ka wā ʻōpio, e like me ka ulu ʻana o ka umauma a me ka hoʻomaka ʻana o ka menstruation. He mea nui nō hoʻi ia no nā iwi ikaika a me ke olakino o ka puʻuwai.
• Lapaʻau Progestin: Ma hope o kekahi mau makahiki o ka lāʻau lapaʻau estrogen, hāʻawi ʻia kahi hormone i kapa ʻia ʻo progestin e mālama i ke kaʻina hana menstrual ma ke ʻano kūlohelohe.

Ma waho aʻe o kēia mau lāʻau lapaʻau hormone, he mea nui e ʻimi i ka lāʻau lapaʻau a me nā nānā maʻamau mai nā loea kūpono no nā pilikia i kūkākūkā ʻia ma mua (e like me ka maʻi puʻuwai, nā pilikia puʻupaʻa, a me ka pilikia o ka lohe).

Āhea wau e kamaʻilio ai me ke kauka e pili ana i kaʻu keiki?

He mea nui loa ka ʻike ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau i ka wā hikiwawe loa.

E makaʻala i ka ulu ʻana o kāu keiki a me nā hanana koʻikoʻi. Inā manaʻo ʻoe he pōkole loa kāu kaikamahine ma mua o nā keiki ʻē aʻe o kona mau makahiki, a inā paha e hōʻike ana ʻo ia i kekahi o nā hōʻailona kino i ʻōlelo ʻia ma luna, mai hoʻokaʻulua i ke kamaʻilio ʻana me kāu kauka pediatric.

Aia ʻelua mau mea nui ʻē aʻe a nā kauka e ʻōlelo nei:

• Nānā ʻana no nā pilikia aʻo: He manaʻo maikaʻi e nānā pono i ka ulu ʻana o kāu keiki i ka wā hikiwawe loa, malia paha i ka wā 1-2 mau makahiki, a nānā i nā pilikia aʻo. Inā he pilikia, hiki iā ʻoe ke kamaʻilio me nā kumu ma ke kula a hāʻawi i ke keiki i ke kākoʻo kūikawā a lākou e pono ai.
• Ke ʻimi nei i ke kākoʻo olakino noʻonoʻo: He mea nui loa e ʻimi i ke kōkua o kahi kākāʻōlelo olakino noʻonoʻo (psychologist keiki) e kōkua i kāu keiki e hoʻoponopono i nā pilikia pili kaiaulu, ka manaʻo haʻahaʻa iā ia iho, a me ka hopohopo e kū mai ana i ka wā e noho ana me kēia maʻi.

ʻOiai paha he pōkole iki ke ola o kahi keiki me ka Turner syndrome ma mua o ka heluna kanaka maʻamau, me ka nānā mau ʻana o ke kauka, ka mālama ʻana i ka manawa kūpono, a me ka hoʻokele maikaʻi ʻana i nā pilikia olakino, hiki iā lākou ke ola i kahi ola maʻamau a hauʻoli hoʻi.