Turner maʻi maʻi

ʻO Turner Syndrome kahi ʻano laha ʻole i loaʻa ʻole i ka wahine ka lua mau chromosome X.

ʻO ka helu maʻamau o nā chromosome kanaka he 46. Aia nā Chromosome i kāu mau genes āpau a me DNA, nā mea kūkulu o ke kino. ʻElua o kēia chromosome, nā chromosome wahine, e hoʻoholo inā lilo ʻoe i keikikāne a i ʻole i kaikamahine.

• Loaʻa nā wahine i 2 o nā chromosome moekolohe like, i kākau ʻia e like me XX.
• Loaʻa i nā kāne he X a me kahi chromosome Y (kākau ʻia ma XY).

I Turner Syndrome, ua nalowale nā ​​hunaola āpau a i ʻole kahi ʻāpana o kahi X chromosome. Kū wale ke kūlana i nā wahine. ʻO ka mea maʻamau, ʻo ka wahine me Turner syndrome he 1 X chromosome wale nō. Loaʻa i kekahi he 2 chromosome X, akā ʻaʻole piha kekahi o lākou. I kekahi manawa, loaʻa i kekahi wahine i kekahi mau hunaola me 2 X chromosome, akā ʻo nā pūnaewele ʻē aʻe he 1 wale nō.

Nā hualoaʻa kūpono o ke poʻo a me ka ʻāʻī e komo pū:

• Kau haʻahaʻa nā pepeiao.
• Hōʻike ākea a ākea paha i ka pūnaewele.
• He ʻololī o ka waha o ka waha (kiʻekiʻe kiʻekiʻe).
• ʻO lalo ke poʻo o ka lauoho ma hope o ke poʻo.
• Lalo ka iwi ā lalo a ʻikea e mae wale (emi hope).
• ʻO nā lihilihi maka maka a me nā maka maloʻo.

Hiki i nā mea i loaʻa ʻē aʻe ke:

• Pōkole nā ​​manamana lima a me nā manamana wāwae.
• Pehu nā lima a me nā wāwae i nā pēpē.
• He ololi nā kui, a huli i luna.
• Ākea a pālahalaha ka umauma. ʻIke ākea ākea ākea.
• ʻOi ke kiʻekiʻe o ka hānau ʻana ma mua o ka awelika.

ʻO kahi keiki me Turner Syndrome ʻoi aku ka pōkole ma mua o nā keiki i like ka makahiki a me ka wahine. Kapa ʻia kēia he kino pōkole. ʻAʻole paha ʻike ʻia kēia pilikia i nā kaikamahine ma mua o ka makahiki 11.

ʻAʻohe paha ʻo Puberty a ʻaʻole piha paha. Inā kū ka ʻōpio, hoʻomaka pinepine ia i ka makahiki maʻamau. Ma hope o ka makahiki ʻōpio, ke ʻole e mālama ʻia me nā hormones wahine, e loaʻa kēia mau mea i loaʻa.

• Aia pinepine ka lauoho Pubic a maʻamau.
• ʻAʻole hiki ke ulu i ka umauma.
• ʻAʻohe a māmā paha nā wā Menstrual.
• ʻO ka maloʻo a me ka ʻeha me ka moekolohe ka maʻamau.
• Hoʻoipo.

I kekahi manawa, ʻaʻole hiki ke hana ʻia ke kuhi o Turner maʻi a hiki i ke kanaka makua. ʻIke ʻia paha no ka mea he māmā loa ka wahine a ʻaʻohe manawa menstrual a me nā pilikia e hāpai ana.

Hiki ke ʻike ʻia ka maʻi ʻo Turner i kēlā me kēia pae o ke ola.

ʻIke ʻia paha ma mua o ka hānau ʻana inā:

• Hana ʻia kahi kālailai chromosome ma ka hoʻāʻo ʻana o ka prenatal.
• ʻO kahi cystic hygroma kahi ulu ulu pinepine i ka poʻo a me ka ʻāʻī. ʻIke ʻia kēia loaʻa ma ka ultrasound i ka wā o ka hāpai ʻana a alakaʻi i ka hoʻāʻo hou.

E hana ka mea mālama ola i kahi hoʻokolohua kino a nānā i nā hōʻailona o ka hoʻomohala atypical. Ua pehu pinepine nā pēpē me Turner Syndrome i nā lima a me nā wāwae.

E hana ʻia paha kēia mau hoʻāʻo:

• Nā pae hormonone koko (luteinizing hormone, estrogen, and follicle-stimulate hormone)
• ʻEchocardiogram
• Karyotyping
• MRI o ka umauma
• Ultrasound o nā mea hānau a me nā puʻupaʻa
• ʻImi pelvic

Nā hoʻokolohua ʻē aʻe i hiki ke hana ʻia i kēlā me kēia manawa:

• Ke nānā ʻana i ke kaomi koko
• Nānā thyroid
• Nā ho'āʻo koko no nā lipid a me nā glucose
• Loiloi hoʻolohe ʻana
• Hōʻike maka
• ʻImi hoʻāʻo iwi

Hiki i ka hormone ulu ke kōkua i kahi keiki me Turner syndrome e ulu kiʻekiʻe.

Hoʻomaka pinepine ʻia ka Estrogen a me nā hormones ʻē aʻe ke kaikamahine i 12 a 13 mau makahiki paha.

• Kōkua kēia mau mea i ka ulu ʻana o nā umauma, ka lauoho pubic, nā ʻano moekolohe ʻē aʻe, a me ka ulu ʻana i ke kiʻekiʻe.
• Hoʻomau ʻia ka Estrogen therapy ma o ke ola a hiki i ka makahiki o ka menopause.

ʻO nā wahine me ka maʻi ʻo Turner e makemake ana e hāpai e noʻonoʻo paha i ka hoʻohana ʻana i kahi hua manu hāʻawi.

Pono paha nā wahine me Turner Syndrome e mālama a kiaʻi paha no nā pilikia olakino e hiki mai ana.

• Hoʻokumu ʻo Keloid
• Lohe hoʻolohe
• Piʻi koko kiʻekiʻe
• Diabetes
• Ka lahilahi o nā iwi (osteoporosis)
• Ka laulā o ka aorta a me ka hoʻopili ʻana o ka nohona aorta
• Kālepaʻa
• Ka momona

Hiki i nā pilikia ʻē aʻe ke:

• Hoʻoponopono kaumaha
• Hoʻoikaika kino
• Hoʻololi i ka wā makua
• Kaumaha a me ke kaumaha ma luna o nā loli

Hiki i nā poʻe me Turner Syndrome ke loaʻa kahi ola maʻamau ke nānā pono ʻia e kā lākou mea hāʻawi.

Hiki i nā pilikia olakino ʻē aʻe ke:

• ʻO ka thyroiditis
• Nā pilikia ʻiʻo
• Nā maʻi ma waena o ka pepeiao
• Scoliosis

ʻAʻohe ala i ʻike ʻia e pale aku ai iā Turner Syndrome.

Bonnevie-Ullrich maʻi maʻi; ʻO Dysgenesis hōʻino; Monosomi X; XO

• Karyotyping

Bacino CA, Lee B. Cytogenetics In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 98.

ʻO Sorbara JC, ʻo Wherrett DK. Nā maʻi o ka hoʻomohala moekolohe. I: Martin RJ, Fanaroff AA, Walsh MC, hua. ʻO Fanaroff lāua ʻo Martin's Neonatal-Perinatal Medicine. 11th hua. Piladelapia, PA: Elsevier; 2020: chap 89.

ʻO Styne DM. Physiology a me nā maʻi o ka wā ʻōpio. I: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. ʻO Williams Textbook of Endocrinology. 14th ed. Piladelapia, PA: Elsevier; 2020: chap 26.