Klinefelter Syndrome

ʻO ka syndroma Klinefelter kahi kūlana maʻamau e loaʻa ai i kahi kanaka i hoʻonoho ʻia he kāne i ka wā hānau he kope hou aku o ka chromosome wahine X ma kahi o ka XY maʻamau. He kūlana genetic ka syndroma Klinefelter e kū mai ana ma mua o ka hānau ʻana, akā pinepine ʻia ʻaʻole i ʻike ʻia a hiki i ka wā makua.

Hiki i ka syndroma Klinefelter ke hoʻopilikia i ka ulu ʻana o nā testes. ʻO ka hopena, liʻiliʻi nā testes, kahi e alakaʻi ai i ka hana ʻana i ka testosterone liʻiliʻi. Hiki nō hoʻi i ka syndroma ke hoʻopilikia i ka liʻiliʻi o ka nui o nā ʻiʻo, ka lauoho kino a me ka maka liʻiliʻi, a me ka ʻiʻo umauma hou aku. Hoʻololi nā hopena o ka syndroma Klinefelter, a ʻaʻole nā ​​​​kānaka a pau i loaʻa nā hōʻailona like.

ʻO ka hapa nui o nā kānaka me ka syndroma Klinefelter e hana iki a ʻaʻohe sperm, akā hiki i nā kaʻina hana hoʻohua kōkua ke hiki i kekahi poʻe me ka syndroma Klinefelter ke loaʻa nā keiki kino.

Hōʻike nā hōʻailona o ka syndroma Klinefelter i kahi ākea ākea. He nui nā keiki me ka syndroma Klinefelter e hōʻike ana i nā hōʻailona liʻiliʻi a palupalu paha. ʻO ka manawa pinepine, ʻaʻole i ʻike ʻia ke kūlana a hiki i ka wā ʻōpiopio a i ʻole ka wā makua paha, a i ʻole paha ʻaʻole loa e ʻike ʻia. No nā poʻe ʻē aʻe, loaʻa i ke kūlana ka hopena maopopo ma ka ulu a i ʻole ke ʻano. Hiki i ka syndroma Klinefelter ke hoʻopilikia i ka hoʻomohala ʻana, ke ʻano kino, ka hoʻomohala moekolohe a me ke olakino noʻonoʻo. Ka hoʻomohala mālie o ka mīkini, e like me ka lōʻihi ma mua o ka awelika e noho ai, e kolo ai a me ka hele ʻana. Ke kamaʻilio nei ma hope o nā pēpē ʻē aʻe o ka makahiki like. Nā pilikia aʻo a me ka ʻōlelo, e like me ka pilikia me ka heluhelu, kākau, kīleʻa a i ʻole ka makemakika. Kiʻekiʻe ma mua o ka awelika. Nā wāwae lōʻihi, kino pōkole, poʻohiwi lahilahi, nā ʻūhā ākea a me ka momona ʻōpū hou aku i hoʻohālikelike ʻia me nā keiki a me nā mākua ʻē aʻe i hānau ʻia ma ke ʻano kāne. Ma hope o ka wā ʻōpiopio, emi iho ka nui o nā ʻiʻo a me ka lauoho maka a me ke kino i hoʻohālikelike ʻia me nā ʻōpio a me nā mākua ʻē aʻe i hānau ʻia ma ke ʻano kāne. ʻO ka waiū hou, i kapa ʻia ʻo gynecomastia. Nā pae ikehu haʻahaʻa. Nā hua liʻiliʻi, paʻa a me ka penis liʻiliʻi. Hiki i nā pēpē ke hānau ʻia me nā hua i neʻe ʻole mai ka ʻōpū i ka scrotum, kahi kūlana i kapa ʻia ʻo nā hua i hānau ʻole ʻia. Nā loli o ka wā ʻōpiopio i hoʻopanee ʻia, ʻo ia wale nō kekahi mau loli a i ʻole ʻaʻole loa e hana. Ka nui o ka sperm haʻahaʻa a i ʻole ʻaʻohe sperm. Ka makemake moekolohe haʻahaʻa. Pilikia i ka hōʻike ʻana i nā manaʻo a me nā manaʻo. Ke pilikia nei i ka komo ʻana i nā hana pilikanaka. E kamaʻilio me kāu kauka lapaʻau inā ʻike ʻoe: Hoʻomohala mālie i ka wā kamaliʻi a i ʻole keiki. Hiki i nā hoʻopanee ʻana i ka ulu a me ka hoʻomohala ʻana ke lilo i hōʻailona mua o kekahi mau kūlana e pono ai ka mālama, me ka syndroma Klinefelter. ʻOiai ke manaʻo ʻia kekahi mau ʻokoʻa i ka hoʻomohala kino a me ka noʻonoʻo ma waena o nā keiki, e nīnau i ke kauka lapaʻau inā loaʻa iā ʻoe kekahi mau hopohopo. Nā pilikia me ka hānau keiki. ʻAʻole pinepine i ʻike ʻia nā pilikia me ka hānau keiki i nā kānaka me ka syndroma Klinefelter a hiki i ko lākou ʻike ʻana ʻaʻole hiki iā lākou ke loaʻa i kahi keiki ola.

E kamaʻilio i kāu limahana mālama ola inā ʻike ʻoe i kēia mau mea:

• Hoʻomohala lohi i ka wā kamaliʻi a i ʻole ke kamaliʻi. Hiki i nā hoʻopaneʻe i ka ulu a me ka hoʻomohala ke lilo i hōʻailona mua o kekahi mau kūlana e pono ai ka mālama, me ka syndrome Klinefelter. ʻOiai ke manaʻo ʻia nei kekahi mau ʻokoʻa i ka hoʻomohala kino a me ka noʻonoʻo ma waena o nā keiki, e nīnau i kahi limahana mālama ola inā loaʻa iā ʻoe kekahi mau hopohopo.
• Nā pilikia me ka hānau keiki. ʻAʻole pinepine ka ʻike ʻia ʻana o nā pilikia me ka hānau keiki i nā kānaka me ka syndrome Klinefelter a hiki i ko lākou ʻike ʻana ʻaʻole hiki iā lākou ke loaʻa ke keiki ola.

Hoʻokumu ʻia ka syndroma Klinefelter ma muli o kahi loli kūlohelohe i loko o ka hua manu a i ʻole ka waimaka e hoʻokumu ai i kahi pēpē i hānau ʻia me ka chromosome wahine X keu. ʻAʻole hoʻoili ʻia kēia kūlana i loko o nā ʻohana.

Hiki ke hoʻokumu ʻia ka syndroma Klinefelter e:

• Hoʻokahi kope keu o ka chromosome wahine X i loko o kēlā me kēia cell (XXY), ʻo ia ka kumu maʻamau loa.
• Hoʻokahi chromosome wahine X keu i loko o kekahi mau cell. Ua kapa ʻia kēia he syndroma Klinefelter mosaic a hiki ke hopena i ka emi ʻana o nā hōʻailona.
• ʻOi aku ma mua o hoʻokahi kope keu o ka chromosome wahine X, he mea maʻamau ʻole kēia a hopena i kahi ʻano koʻikoʻi o ka syndroma.

I loko o nā kānaka i hānau ʻia me ke kāne, hiki i nā kope keu o nā gene ma ka chromosome wahine X ke hoʻopilikia i ka hoʻomohala ʻana o ka moekolohe a me ka hānau keiki.

Hiki mai ka syndroma Klinefelter ma muli o ka loli kūlohelohe o ka gene ma ka wai sperm a i ʻole ka hua manu. ʻAʻohe mea e hoʻonui ai i ka pilikia o ka syndroma Klinefelter ma muli o nā mea a nā mākua e hana ai a i ʻole ʻaʻole lākou e hana ai. No nā poʻe e hāpai ana ma hope o 35 mau makahiki, ʻoi aku ka nui o ka pilikia, akā iki wale nō.

Hiki i ka syndroma Klinefelter ke hoʻonui i ka pilikia o:

• Nā pilikia pilikanaka, manaʻo a me ka hana, e like me ka manaʻo haʻahaʻa.
• Pilikia me ka hānau keiki a me ka hana moe.
• Iwi lahilahi a palupalu, kahi kūlana i kapa ʻia ʻo osteoporosis.
• Ka maʻi naʻau a me nā kīʻaha koko.
• Ka maʻi ʻaʻai umauma a me kekahi mau maʻi ʻaʻai ʻē aʻe.
• Ka maʻi ʻea.
• Ke kaumaha nui.
• Nā maʻi autoimmune e like me ka lupus a me ka rheumatoid arthritis.
• Nā pilikia niho a me ka waha e hoʻonui ai i ka pilikia o nā lua niho.
• Ka maʻi autism spectrum.

ʻO kekahi mau pilikia i hana ʻia e ka syndroma Klinefelter ka hopena o ka testosterone haʻahaʻa, i kapa ʻia hoʻi ʻo hypogonadism. Hoʻemi ka lāʻau hormone i ka pilikia o kekahi mau pilikia olakino, ʻoi aku hoʻi inā hoʻomaka ʻia ka lāʻau i ka hoʻomaka ʻana o ka pubertal.

No ka hōʻoiaʻana i ka maʻi Klinefelter, e hana kekahi limahana mālama ola i kahi hōʻoia kino a nīnau i nā nīnau e pili ana i nā hōʻailona a me ke olakino. ʻO kēia paha e komo pū ana i ka nānā ʻana i ka ʻāpana genital a me ka umauma a me ke kamaʻilio ʻana e pili ana i ka hoʻomohala ʻana a me ka hana.

ʻO nā ho'okolohua nui i hoʻohana ʻia e hōʻoia i ka maʻi Klinefelter:

• Ho'okolohua hormone. Hiki i nā ho'okolohua koko ke hōʻike i nā loli o ka pae hormone he hōʻailona ia o ka maʻi Klinefelter.
• Ka nānā chromosome. I kapa ʻia hoʻi he karyotype, hiki i kēia ho'okolohua ke hōʻoia i ka hōʻoia ʻana o ka maʻi Klinefelter. Hoʻouna ʻia kahi laʻana koko i ka hale hana e nānā i ke ʻano a me ka nui o nā chromosome.

I kekahi manawa, e hōʻoia nā limahana mālama ola i ka maʻi Klinefelter ma mua o ka hānau ʻana i ka wā e hana ʻia ai ka ho'okolohua no ke kumu ʻē aʻe. Hiki ke loaʻa ka maʻi i ka wā hāpai i ka wā o kahi kaʻina hana e nānā i nā sela fetal i lawe ʻia mai ka wai a puni ke pēpē a i ʻole mai ka placenta. Hiki ke hana ʻia kēia mau ho'okolohua no nā poʻe hāpai i ʻoi aku ka nui o ko lākou makahiki ma mua o 35 a i ʻole he mōʻaukala ʻohana o nā kūlana genetic.

Hiki ke kānalua ʻia ka maʻi Klinefelter i ka wā o kahi ho'okolohua koko prenatal noninvasive. E nānā kēia ho'okolohua i ka DNA cell-free i loko o ka laʻana koko o ka mea hāpai. No ka hōʻoia ʻana i ka hōʻoia ʻana, pono ka ho'okolohua prenatal invasive hou aku.

Inā ʻike ʻia ʻoe a i ʻole kāu keiki me ka syndroma Klinefelter, hiki i kāu hui olakino ke komo pū me ke kauka i kapa ʻia he endocrinologist ka mea akamai i nā kūlana e pili ana i nā gland a me nā hormones o ke kino. Hiki nō hoʻi i kāu hui ke komo pū me kahi therapist ʻōlelo, pediatrician, therapist kino, kākāʻōlelo genetics, loea lapaʻau hoʻohua a i ʻole infertility, a me kahi kākāʻōlelo a i ʻole psychologist.

ʻOiai ʻaʻohe ala e hoʻoponopono ai i nā loli chromosome wahine ma muli o ka syndroma Klinefelter, hiki i nā lāʻau lapaʻau ke kōkua i ka hoʻemi ʻana i kona mau hopena. ʻO ka mua loa ka ʻike ʻana i ke kūlana a me ka hoʻomaka ʻana o ka lāʻau lapaʻau, ʻoi aku ka nui o nā pōmaikaʻi. Akā ʻaʻole loa ia he mea kakaʻikahi ke loaʻa ka kōkua.

Hoʻokumu ʻia ka lāʻau lapaʻau no ka syndroma Klinefelter ma nā hōʻailona a hiki ke komo pū me:

• Lāʻau lapaʻau Testosterone. Mai ka manawa o ka hoʻomaka maʻamau o ka puberty, hiki ke hāʻawi ʻia ka lāʻau lapaʻau testosterone e kōkua i ka hoʻoulu ʻana i nā loli e hana maʻamau i ka puberty. ʻO kēia mau loli e komo pū me ka leo hohonu, ka lauoho maka a me ke kino, ka nui o nā ʻiʻo nui, a me ka makemake moekolohe. Hiki nō hoʻi i ka lāʻau lapaʻau testosterone ke kōkua i ka mānoanoa o ka iwi. Hiki paha ke kōkua i ke ʻano, ka nānā a me ka nānā pono. ʻAʻole kōkua ka lāʻau lapaʻau testosterone i nā pilikia hānau.
• Wehe ʻana i ka ʻiʻo umauma. Inā ulu ka ʻiʻo umauma keu, hiki ke wehe ʻia ka ʻiʻo e ke kauka plastik, inā makemake ʻia.
• Therapy. Hiki i ka therapy ʻōlelo a me ka ʻōlelo ke kōkua inā he mau pilikia ʻōlelo a i ʻole ʻōlelo. Hiki i ka therapy kino ke kōkua me nā mākau ʻenekini a me ka ikaika o nā ʻiʻo. Hiki i ka occupational therapy ke kōkua me nā mākau pilikanaka a me nā mākau hana.
• Loiloi a me ke kākoʻo hoʻonaʻauao. Inā he pilikia ka aʻo ʻana a me ka launa pū ʻana, hiki ke kōkua nā lawelawe keu. E kamaʻilio me ke kumu o kāu keiki, ke kākāʻōlelo kula a i ʻole ke kahu kula e pili ana i ke ʻano o ke kākoʻo e loaʻa ana.
• Lāʻau lapaʻau hānau. ʻAʻole hiki i ka hapanui o nā kānaka me ka syndroma Klinefelter ke loaʻa nā keiki ola ma muli o ka liʻiliʻi a i ʻole ka ʻole o ka sperm i hana ʻia i nā testicles. No kekahi poʻe e hana i kahi liʻiliʻi o ka sperm, hiki ke kōkua i kahi kaʻina hana i kapa ʻia ʻo intracytoplasmic sperm injection (ICSI). I ka wā o ka ICSI, lawe ʻia ka sperm mai ka testicle me kahi nila biopsy a hoʻokomo pololei ʻia i loko o ka hua.
• Kākoʻo olakino noʻonoʻo. Hiki i ka loaʻa ʻana o ka syndroma Klinefelter ke lilo i mea paʻakikī, ʻoi aku hoʻi i ka wā o ka puberty a me ka wā ʻōpio. Hiki nō hoʻi ke lilo i mea paʻakikī ka hoʻoponopono ʻana i ka infertility. Hiki i kahi therapist ʻohana, kākāʻōlelo a i ʻole psychologist ke kōkua i ka hana ʻana i nā pilikia manaʻo.

Hiki i ka lāʻau lapaʻau, ka hoʻonaʻauao olakino a me ke kākoʻo pilikanaka ke pōmaikaʻi nui i nā kānaka me ka syndroma Klinefelter.

Inā loaʻa iā ʻoe kahi keiki me ka syndroma Klinefelter, hiki iā ʻoe ke kōkua me ka hoʻomohala olakino noʻonoʻo, kino, manaʻo a me ka pilikanaka.

• E aʻo e pili ana i ka syndroma Klinefelter. A laila hiki iā ʻoe ke hāʻawi i ka ʻike pololei, ke kākoʻo a me ka hoʻoikaika.
• E nānā i ka hoʻomohala ʻana o kāu keiki. E kiʻi i ke kōkua no nā pilikia āu e ʻike ai, e like me nā pilikia me ka ʻōlelo a i ʻole ka ʻōlelo.
• E mālama i nā hālāwai hoʻomau maʻamau me nā limahana olakino. Hiki paha kēia ke kōkua i ka pale ʻana i nā pilikia i ka wā e hiki mai ana.
• E hoʻolālā i nā haʻuki a me nā hana kino. E kōkua kēia mau hana i ka kūkulu ʻana i ka ikaika o nā ʻiʻo a me nā mākau ʻenekini.
• E hoʻolālā i nā hana pilikanaka a me nā hui. Hiki i kēia mau hana ke kōkua i ka hoʻomohala ʻana i nā mākau pilikanaka.
• E hana pili pono me ke kula o kāu keiki. Hiki i nā kumu, nā kākāʻōlelo kula a me nā luna kula e hoʻomaopopo i nā pono o kāu keiki ke hana i kahi ʻokoʻa nui.
• E aʻo i ka mea e loaʻa ai ke kākoʻo. No ka laʻana, e nīnau e pili ana i nā lawelawe hoʻonaʻauao kūikawā a i ʻole nā ​​lawelawe olakino noʻonoʻo, inā pono.
• E hoʻopili me nā mākua a me nā ʻohana ʻē aʻe. He kūlana maʻamau ka syndroma Klinefelter. E nīnau i kāu limahana olakino e pili ana i nā kumuwaiwai pūnaewele a me nā hui kākoʻo e hiki ke kōkua i ka pane ʻana i nā nīnau a me ka hāʻawi ʻana i ke kākoʻo.

Inā loaʻa iā ʻoe ka syndroma Klinefelter, hiki iā ʻoe ke pōmaikaʻi mai kēia mau ʻōlelo aʻo mālama pono iā ʻoe iho:

• E hana pū me kāu limahana olakino. Hiki i ka loaʻa ʻana o ka lāʻau lapaʻau ke kōkua iā ʻoe e mālama i kou olakino kino a me kou noʻonoʻo a me ke kōkua i ka pale ʻana i nā pilikia ma hope i ke ola, e like me nā iwi nāwaliwali e alakaʻi i ka osteoporosis.
• E ʻike i kāu mau koho no ka hoʻolālā ʻana i kahi ʻohana. Hiki iā ʻoe a me kāu hoa ke makemake e kamaʻilio me kahi limahana olakino e pili ana i kāu mau koho.
• E aʻo e pili ana a e kamaʻilio me nā poʻe ʻē aʻe i loaʻa ka kūlana. E nīnau i kāu hui olakino e pili ana i nā kumuwaiwai e hāʻawi ana i ka ʻike e pili ana i ka syndroma Klinefelter a e hāʻawi ana i nā manaʻo o nā poʻe ʻē aʻe a me kā lākou mau hoa e hoʻoponopono i ke kūlana. Hiki paha iā ʻoe ke ʻike he mea kōkua ke komo i kahi hui kākoʻo.

Inā loaʻa iā ʻoe nā pilikia olakino noʻonoʻo i kēlā me kēia makahiki, e like me ka kaumaha a i ʻole ka haʻahaʻa o ka manaʻo ponoʻī, hiki i ka kamaʻilio ʻana me kahi limahana olakino noʻonoʻo ke kōkua.

Hiki i ka mālama, ka hoʻonaʻauao ola kino a me ke kākoʻo kaiapuni ke pōmaikaʻi nui i nā kānaka me ka Klinefelter syndrome. Nā keiki a me nā ʻōpio me ka Klinefelter syndrome Inā loaʻa iā ʻoe ke keiki me ka Klinefelter syndrome, hiki iā ʻoe ke kōkua me ka hoʻomohala kino, noʻonoʻo, manaʻo a me ka nohona olakino. E aʻo e pili ana i ka Klinefelter syndrome. A laila hiki iā ʻoe ke hāʻawi i ka ʻike pololei, ke kākoʻo a me ka hoʻoikaika. E nānā i ka hoʻomohala ʻana o kāu keiki. E kiʻi i ke kōkua no nā pilikia āu e ʻike ai, e like me nā pilikia me ka ʻōlelo a i ʻole ka ʻōlelo. E mālama i nā hālāwai kūkākūkā maʻamau me nā limahana lapaʻau. Hiki paha kēia ke kōkua i ka pale ʻana i nā pilikia i ka wā e hiki mai ana. E hoʻolālā i nā hana pāʻani a me nā hana kino. E kōkua kēia mau hana i ka hoʻoikaika ʻana i ka ikaika o nā ʻiʻo a me nā mākau ʻenekini. E hoʻolālā i nā hana kaiapuni a me nā hui. Hiki i kēia mau hana ke kōkua i ka hoʻomohala ʻana i nā mākau kaiapuni. E hana pili pono me ke kula o kāu keiki. Hiki i nā kumu, nā kākāʻōlelo kula a me nā luna hoʻomalu e hoʻomaopopo i nā pono o kāu keiki ke hana i kahi ʻokoʻa nui. E aʻo i ka mea kākoʻo e loaʻa ana. No ka laʻana, e nīnau e pili ana i nā lawelawe hoʻonaʻauao kūikawā a i ʻole nā ​​lawelawe olakino noʻonoʻo, inā pono. E hoʻopili me nā mākua a me nā ʻohana ʻē aʻe. He kūlana maʻamau ka Klinefelter syndrome. E nīnau i kāu limahana mālama ola e pili ana i nā kumuwaiwai pūnaewele a me nā hui kākoʻo e hiki ke kōkua i ka pane ʻana i nā nīnau a me ka hāʻawi ʻana i ke kākoʻo. Nā mākua me ka Klinefelter syndrome Inā loaʻa iā ʻoe ka Klinefelter syndrome, hiki iā ʻoe ke pōmaikaʻi mai kēia mau ʻōlelo aʻo mālama ponoʻī: E hana pū me kāu limahana mālama ola. Hiki i ka loaʻa ʻana o ka mālama ke kōkua iā ʻoe e mālama i kou olakino kino a me kou noʻonoʻo a kōkua i ka pale ʻana i nā pilikia ma hope i ke ola, e like me nā iwi nāwaliwali e alakaʻi i ka osteoporosis. E ʻike i kāu mau koho no ka hoʻolālā ʻana i kahi ʻohana. Hiki iā ʻoe a me kāu hoa ke makemake e kamaʻilio me kahi limahana mālama ola e pili ana i kāu mau koho. E aʻo e pili ana a kamaʻilio me nā poʻe ʻē aʻe i loaʻa ka kūlana. E nīnau i kāu hui mālama ola e pili ana i nā kumuwaiwai e hāʻawi ana i ka ʻike e pili ana i ka Klinefelter syndrome a hāʻawi i nā manaʻo o nā poʻe ʻē aʻe a me kā lākou mau hoa e kūpaʻa ana i ke kūlana. Hiki iā ʻoe ke ʻike he kōkua ke komo i kahi hui kākoʻo. Inā loaʻa iā ʻoe nā pilikia olakino noʻonoʻo i kēlā me kēia makahiki, e like me ke kaumaha a i ʻole ka haʻahaʻa o ka manaʻo ponoʻī, hiki i ke kamaʻilio ʻana me kahi limahana olakino noʻonoʻo ke kōkua.