Taurere Syndrome

Ko te urutaru o Turner, he āhuatanga e pā ana ki ngā wāhine anake, ka puta mai ina ngaro tetahi o ngā karōroma X (ngā karōroma ira tangata) kāore rānei i te whakaoti. Ka taea e te urutaru o Turner te whakaeke i ngā raru hauora me ngā raru whanaketanga maha, tae atu ki te poto o te teitei, te kore o ngā ovaries e whanake me ngā hapa o te ngakau.

Ka taea te whakatau i te urutaru o Turner i mua i te whānau (prenatally), i te wā o te whānau tamariki, i te wā rānei o te tamarikitanga. I etahi wā, i ngā wāhine e whai tohu iti me ngā tohu o te urutaru o Turner, ka whakaroa te whakatau tae noa ki ngā tau taiohi, ki ngā tau pakeke rānei.

Me whakawhiwhi ngā kōtiro me ngā wāhine e pangia ana e te urutaru o Turner ki te tiaki hauora haere tonu mai i ngā tohunga maha. Ka taea e ngā tirotiro auau me te tiaki tika te āwhina i te nuinga o ngā kōtiro me ngā wāhine kia ora hauora, kia ora motuhake hoki.

Ko ngā tohu me ngā pūāhua o te mate Turner syndrome e rereke ana i waenganui i ngā kōtiro me ngā wāhine e pangia ana e te mate. Ki ētahi kōtiro, ka kore pea e kitea ngā tohu o te mate Turner syndrome, engari ki ētahi atu kōtiro, ka kitea ngā āhuatanga tinana maha i te tīmatanga. Ka taea e ngā tohu me ngā pūāhua te ngāwari, te whanake haere māmā i te wā, te nui rānei, pēnei i ngā hapa o te ngākau.

He uaua te whakamārama i ngā tohu me ngā tohu o te mate Turner syndrome mai i ētahi atu mate. He mea nui kia tere te whakamārama tika me te tiaki tika. Tirohia tō tākuta mena kei te manukanuka koe mō te mate Turner syndrome pea. Ka tuku pea tō tākuta ki te taote e whakahirahira ana i ngā kaupapa ira (geneticist) i ngā mate hormone rānei (endocrinologist) mō te aromatawai atu.

Ko te nuinga o te iwi ka whānau mai me ngā kāromiti ira tangata e rua. Ka whiwhi ngā tane i te kāromiti X mai i ō rātou whaea, ā, te kāromiti Y mai i ō rātou matua. Ka whiwhi ngā wāhine i tētahi kāromiti X mai i ia mātua. I ngā wāhine he tūāhuratanga Turner kei a rātou, ka ngaro tētahi kōpe o te kāromiti X, kāore rānei i te tino ngaro, kāore rānei i te whakarerekē.

Ko ngā huringa ira o te tūāhuratanga Turner pea tētahi o ēnei:

• Monosomy. Ko te korenga katoa o tētahi kāromiti X te tikanga ka puta mai i te he i te purapura o te matua, i te hua o te whaea rānei. Ka puta mai tēnei i ngā pūtau katoa o te tinana he kotahi noa te kāromiti X.
• Mosaicism. I ētahi wā, ka puta he he i te wehenga pūtau i ngā wā tuatahi o te whanaketanga o te peepi. Ka puta mai tēnei i ētahi pūtau o te tinana he rua ngā kōpe katoa o te kāromiti X. Ko ētahi atu pūtau he kotahi noa te kōpe o te kāromiti X.
• Ngā huringa kāromiti X. Ka taea te puta mai o ngā wāhanga i whakarerekētia, kāore rānei i te ngaro o tētahi o ngā kāromiti X. He kotahi te kōpe katoa me tetahi kōpe i whakarerekētia kei ngā pūtau. Ka taea te puta mai tēnei he i te purapura, i te hua rānei, ā, kei ngā pūtau katoa he kotahi te kōpe katoa me tetahi kōpe i whakarerekētia. Ā, ka taea te puta mai tēnei he i te wehenga pūtau i te whanaketanga o te peepi i te timatanga, kia ētahi noa ngā pūtau kei roto ngā wāhanga i whakarerekētia, kāore rānei i te ngaro o tētahi o ngā kāromiti X (mosaicism).
• Ngā rauemi kāromiti Y. I te iti o te ōrau o ngā keehi o te tūāhuratanga Turner, kei ētahi pūtau he kotahi te kōpe o te kāromiti X, ā, kei ētahi atu pūtau he kotahi te kōpe o te kāromiti X me ētahi rauemi kāromiti Y. Ka whānau mai ēnei tangata hei wāhine i te taha o te tinana, engari ko te noho o ngā rauemi kāromiti Y ka piki ake te tūpono o te whanaketanga o tētahi momo mate pukupuku e kiia nei ko te gonadoblastoma.

Ka ngaro pea te kore ranei te kawe i te karāheke X. I etahi wā, nā te raruraru i te purapura, i te hua rānei, ā, i etahi atu wā, ka ngaro pea te kore ranei te kawe i te karāheke X i te tīmatanga o te whanaketanga o te peepi.

Kāore te whānau e āhua nei he take tūpono, na reira ehara i te mea pea ka whānau anō ngā mātua o tētahi tamaiti e pangia ana e te mate Turner syndrome i tētahi atu tamaiti e pangia ana e taua mate.

Ka pā te syndrome o Turner ki te whanaketanga tika o ētahi pūnaha tinana, engari ka rereke nui tēnei i waenga i ngā tāngata e pangia ana e te syndrome. Ko ngā raruraru ka puta ko:

• Nga raruraru o te ngakau. He tokomaha ngā pēpi e whānau ana me te syndrome o Turner me ngā hapa o te ngakau, aha atu rānei ngā rerekētanga iti i roto i te hanganga o te ngakau e whakapiki ake ana i to rātou tūponotanga ki ngā raruraru nui. Ko ngā hapa o te ngakau ka whakauru pinepine i ngā raruraru ki te aorta, te oko toto nui e peka atu ana i te ngakau, ā, e tuku ana i te toto whai-hākikino ki te tinana.
• Te toto teitei. Ka taea e te syndrome o Turner te whakapiki ake i te tūponotanga o te toto teitei—he āhuatanga e whakapiki ake ana i te tūponotanga o te whanaketanga o ngā mate o te ngakau me ngā oko toto.
• Te ngaro o te rongohere. He mea noa te ngaro o te rongohere me te syndrome o Turner. I etahi wā, ko te take tenei i te ngaro haere o te mahi o te io. Ka taea hoki e te tūponotanga whakapiki ake o ngā mate hopu i te taringa waenganui te hua i te ngaro o te rongohere.
• Nga raruraru o te tirohanga. Ka taea te puta mai o te tūponotanga whakapiki ake o te kaha ngoikore o te mana o te uaua o ngā nekehanga o te kanohi (strabismus), te tirohanga tata, me ētahi atu raruraru o te tirohanga me te syndrome o Turner.
• Nga raruraru o te whatukuhu. Ka hono pea te syndrome o Turner ki ngā hapa o ngā whatukuhu. Ahakoa kaore enei rerekētanga e tino pāngia ki ngā raruraru hauora, ka taea e rātou te whakapiki ake i te tūponotanga o ngā mate hopu o te ara mimi.
• Nga mate aunoa. Ka taea e te syndrome o Turner te whakapiki ake i te tūponotanga o te thyroid ngoikore (hypothyroidism) na te mate aunoa o te Hashimoto's thyroiditis. Kei reira ano te tūponotanga whakapiki ake o te mate huka. I etahi wā ka hono te syndrome o Turner ki te kore-whakaae ki te gluten (mate celiac) te mate ranei o te kopu mumura.
• Nga raruraru o te koiwi. Ko ngā raruraru ki te tipu me te whanaketanga o ngā koiwi ka whakapiki ake i te tūponotanga o te kōwhiu koretake o te tuara (scoliosis) me te porohita whakamua o te tuara o runga (kyphosis). Ka taea hoki e te syndrome o Turner te whakapiki ake i te tūponotanga o te whanaketanga o ngā koiwi ngoikore, pakaru (osteoporosis).
• Nga mate ako. Ko ngā kōtiro me ngā wāhine e pangia ana e te syndrome o Turner he mohio noa i te nuinga. Heoi, kei reira te tūponotanga whakapiki ake o ngā mate ako, inā koa ki te ako e pā ana ki ngā whakaaro ā-wāhi, te pāngarau, te mahara me te aro.
• Nga take hauora hinengaro. Ka raru pea ngā kōtiro me ngā wāhine e pangia ana e te syndrome o Turner i te mahi i roto i ngā āhuatanga pāpori, ka pāngia pea e te awangawanga me te pouri, ā, ka nui ake pea te tūponotanga o te mate morearea/hyperactivity (ADHD).
• Te kore-whanau. Ko te nuinga o ngā wāhine e pangia ana e te syndrome o Turner he kore-whanau. Heoi, ka taea e te tokoiti rawa te hapu mā te āhua ake, ā, ka taea e ētahi te hapu me te maimoatanga whakawhānau.
• Nga raruraru haputanga. Na te mea kei te nui ake te tūponotanga o ngā wāhine e pangia ana e te syndrome o Turner ki ngā raruraru i te wā haputanga, pēnei i te toto teitei me te wehewehe o te aorta, me whakamātauhia rātou e te tohunga ngakau (cardiologist) me te taote haputanga nui-tūponotanga (tohunga rongoā māmā-pēpi) i mua i te haputanga.

Kaore he uauatanga

Mēnā, i runga i ngā tohu me ngā pūāhua, ka whakaaro te taakuta kei tō tamaiti te mate Turner, ka mahia he whakamātautau taiwhanga hei tātari i ngā karōmohoma o tō tamaiti. Ko te whakamātautau kei roto he tauira toto. I etahi wā, ka tono pea tō taakuta he whakakī i te kauae (whakakī buccal) rānei he tauira kiri. Ka whakatau te tātari karōmohoma kei te ngaro rānei tetahi karōmohoma X, kei te huri rānei tetahi o ngā karōmohoma X.

Ka puta mai te taatai i etahi wā i te wā e whānau ana te peepi. Ka whakaohooho pea etahi āhuatanga i runga i te whakaahua ultrasound i te whakaaro kei tō pēpi te mate Turner, kei tetahi atu rānei āhuatanga ira e pā ana ki te whanaketanga i roto i te kopu.

Ka taea hoki e ngā whakamātautau matawai i mua i te whānautanga e arotake ana i te DNA o te pēpi i roto i te toto o te whaea (te matawai DNA kore-whakauru o te pēpi, te matawai i mua i te whānautanga rānei) te tohu i te nui haere o te mate Turner. Heoi, he mea tūtohutia te mahi i te karyotype i te wā o te haputanga, i muri rānei i te whānautanga hei whakau i te taatai.

Mēnā ka whakaarohia te mate Turner i mua i te whānautanga (i mua i te whānautanga), ka ui pea tō tohunga haputanga me te whānautanga (obstetrician) mēnā kei te hiahia koe ki ētahi atu whakamātautau hei mahi i te taatai i mua i te whānautanga o tō pēpi. Ka taea te mahi i tētahi o ngā tukanga e rua hei whakamātautau i mua i te whānautanga mō te mate Turner:

Taria ngā painga me ngā tūponotanga o te whakamātautau i mua i te whānautanga ki tō taakuta.

• Tauira chorionic villus. Kei roto i tēnei te tango i tetahi wāhanga iti o te kiko mai i te whākōkō e whanake ana. Kei roto i te whākōkō te mea ira kotahi me te pēpi. Ka taea te tuku i ngā pūtau chorionic villus ki te taiwhanga ira mō ngā ako karōmohoma. Ka mahia tēnei i te nuinga i waenga i te 11 me te 14 wiki o te haputanga.
• Amniocentesis. I roto i tēnei whakamātautau, ka tangohia he tauira o te wai amniotic mai i te kopu. Ka maka e te pēpi ngā pūtau ki roto i te wai amniotic. Ka taea te tuku i te wai ki te taiwhanga ira mō te ako i ngā karōmohoma o te pēpi i roto i ēnei pūtau. Ka mahia tēnei i te nuinga i muri i te 14 wiki o te haputanga.

Nō te rerekētanga o ngā tohu me ngā raruraru, ka whakaritea ngā rongoā kia whakautu ki ngā raruraru motuhake a te tangata. Ka taea te awhina i te aromatawai me te tirotiro mo ngā take hauora hauora rānei, hinengaro rānei e hono ana ki te mate Turner i te ora katoa kia whakautu wawe ai ki ngā raruraru.

Ko ngā rongoā matua mo te nuinga o ngā kōtiro me ngā wāhine e pangia ana e te mate Turner ko ngā rongoā homoni:

Ka whakaritea ētahi atu rongoā kia whakautu ki ngā raruraru motuhake i te wā e hiahiatia ana. Kua whakaatuhia e ngā tirotiro auau te whakapai ake nui o te hauora me te kounga o te ora mō ngā kōtiro me ngā wāhine e pangia ana e te mate Turner.

He mea nui kia āwhina i tō tamaiti ki te whakarite mō te whakawhiti mai i te tiaki me tō tākuta tamariki ki te tiaki hauora hauora me te hinengaro pakeke. Ka taea e te tākuta tiaki matua te awhina i te whakahaere tonu i te tiaki i waenga i te maha o ngā tohunga puta noa i te ora.

Nō te mea ka taea e te mate Turner te hua i ngā āwangawanga whanaketanga me ngā raruraru hauora, ka uru pea etahi tohunga ki te tātari mō ngā āhuatanga motuhake, te whakarite i ngā whakatau, te tūtohutia i ngā rongoā me te whakarato i te tiaki.

Ka taea te whanake o ngā rōpū i te wā e huri haere ana ngā hiahia puta noa i te ora. Ko ngā tohunga o te rōpū tiaki ka uru pea ki ētahi, ki ētahi rānei o ēnei tohunga, me ētahi atu i te wā e hiahiatia ana:

He iti noa te ōrau o ngā wāhine e pangia ana e te mate Turner ka taea te hapu kahore he rongoā hua. Ko te hunga ka taea tonu te pāngia e te korenga o ngā ovaries me te korenga o te hua i te timatanga o te pakeketanga. No reira, he mea nui te kōrero mō ngā whāinga whakawhānau me tō kaiwhakarato hauora.

Ka taea e ētahi wāhine e pangia ana e te mate Turner te hapu me te hoatu o te hua manu rānei. Ka taea e te tohunga endocrinologist whakawhānau te kōrero mō ngā kōwhiringa me te awhina i te aromatawai i ngā tūmanako o te angitu.

I te nuinga o ngā take, he haputanga morearea te hunga wāhine e pangia ana e te mate Turner. He mea nui te kōrero mō aua morearea i mua i te haputanga me te tohunga obstetrician morearea—he tohunga i te rongoā whaea-pēpi e arotahi ana ki ngā haputanga morearea—rānei he tohunga endocrinologist whakawhānau.

• Hormone tipu. Ko te rongoā hormone tipu—e hoatuhia ana i ia rā hei werohanga o te hormone tipu tangata recombinant—ka tūtohuhia te nuinga kia nui ake te teitei i te wā e tika ana i ngā wā o te tamarikitanga i mua i ngā tau tekau tau. Ka taea e te tīmatanga o te rongoā i te wā wawe te whakapai ake i te teitei me te tipu o te wheua.

• Rongoā estrogen. Ko te nuinga o ngā kōtiro e pangia ana e te mate Turner me tīmata i te rongoā estrogen me te homoni e hono ana kia tīmata ai te pakeke. I te nuinga o te wā, ka tīmata te rongoā estrogen i te wā tata ki te 11 tau rānei te 12 tau rānei. Ka āwhina te estrogen ki te whakatairanga i te whanaketanga o te u me te whakapai ake i te rahi (rāhi) o te kopu. Ka āwhina te estrogen ki te whakauru wheua, ā, ki te whakamahia tahi me te hormone tipu, ka āwhina pea ki te teitei. Ka haere tonu te rongoā whakakapi estrogen puta noa i te ora, tae noa ki te tau toharite o te menopause.

• Tohunga mate homoni (endocrinologist)

• Tohunga hauora wāhine (gynecologist)

• Tākuta e mōhio ana ki ngā tikanga ira (tohunga ira)

• Tohunga ngakau (cardiologist)

• Tohunga mate wheua (orthopedist)

• Tohunga mate mimi (urologist)

• Tohunga taringa, ihu me te korokoro (ENT specialist)

• Tohunga mate puku (gastroenterologist)

• Tohunga raruraru tirohanga me ētahi atu mate kanohi (ophthalmologist)

• Tohunga raruraru rongonga (audiologist)

• Kaimahi hauora hinengaro, pēnei i te tohunga hinengaro rānei te tohunga hinengaro rānei

• Tohunga whanaketanga, e mōhio ana ki te rongoā hei awhina i tō tamaiti kia whanake i ngā whāinga tau, ngā pūkenga pāpori me ngā pūkenga whanaungatanga

• Kaiako mātauranga motuhake

• Tohunga hua (tohunga endocrinologist whakawhānau)

Kaore he uauatanga