Aia kekahi ʻokoʻa i ka ulu ʻana o kāu keiki i ka moekolohe? E kamaʻilio kākou e pili ana i ka Androgen Insensitivity Syndrome!

Ke ulu ka ʻōpū o kahi keiki i loko o ka ʻōpū, i kekahi manawa, ʻaʻole hele nā ​​mea liʻiliʻi e like me ka mea i manaʻo ʻia. Loaʻa paha i kekahi mau keiki nā pilikia liʻiliʻi me ko lākou mau ʻōpū ke hānau ʻia lākou. A i ʻole, ʻaʻole paha e loli ko lākou kino e like me ka mea i manaʻo ʻia ke hiki lākou i ka wā ʻōpio. I kēlā mau manawa, hiki iā mākou ke noʻonoʻo i kahi kūlana i kapa ʻia ʻo `(Androgen Insensitivity Syndrome)`. Mai hopohopo, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Androgen Insensitivity Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Androgen Insensitivity Syndrome (AIS) kahi kūlana i loaʻa ai ke keiki i ke kāne genetic (ʻo ia hoʻi, he chromosome X a he chromosome Y), akā ʻaʻole pane pono kona kino i nā hormones kāne, ʻo androgens . E noʻonoʻo i kēia ʻano: aia nā puka liʻiliʻi i loko o ko mākou kino e hoʻouna i nā leka i nā cell, a pane lākou i kēia mau hormones. I loko o ke kanaka me AIS, ʻaʻole hana pono kēia mau puka.

Ua kapa ʻia kēia e nā kauka he maʻi o ka hoʻokaʻawale ʻana o ke kāne a me ka wahine . Ua kapa ʻia ʻo ia he testicular feminization syndrome, akā ʻaʻole i hoʻohana hou ʻia kēlā inoa. Hoʻopilikia kēia kūlana i ke ʻano o ka ulu ʻana o nā ʻōpū moekolohe o kahi pēpē i ko lākou wā i loko o ka ʻōpū. Hoʻopilikia pū ia i ka ulu ʻana o nā ʻano moekolohe e pono e kū i ka wā ʻōpio. I ka manawa pinepine, ʻaʻole hiki i ka poʻe me kēia kūlana ke loaʻa nā keiki i ka wā makua (infertility) .

Aia kekahi mau ʻano like ʻole o kēia?

ʻAe, ʻekolu ʻano nui o ka `AIS`. He ʻokoʻa iki nā ʻano o kēlā me kēia ʻano.

1. ʻO ka maʻi Androgen Insensitivity piha (CAIS):

• Ua like loa kēia poʻe me nā kaikamahine ma waho. ʻO ia hoʻi, ua like ko lākou mau ʻōpū me ko ke kaikamahine.
• Eia nō naʻe, ʻaʻohe o lākou ʻāpana kino o loko o ka wahine (e like me nā ovaries, fallopian tubes, uterus).
• ʻO ka hapa nui o ka manawa, hānai ʻia nā poʻe me ka 'CAIS' ma ke ʻano he kaikamahine.

2. ʻO ka maʻi ʻike ʻole o ka Androgen hapa (PAIS):

• ʻAʻole paha i ulu piha ko lākou mau ʻāpana kino waho e like me ko ke keikikāne, a i ʻole e like paha lākou me ko ke kaikamahine, a i ʻole he hui pū ʻana o nā mea ʻelua, e paʻakikī ai ke ʻike maopopo iā lākou he kāne a he wahine paha (ambiguous genitalia).
• I kekahi manawa, hānai ʻia nā kānaka me ka 'PAIS' i mau keikikāne a i kekahi manawa he mau kaikamahine.

3. ʻO ka maʻi ʻike ʻole o ka Androgen (MAIS):

• Ua like ko lākou ʻāpana me ko ke keiki kāne.
• Eia nō naʻe, ʻaʻole hiki iā lākou ke loaʻa nā keiki (infertility). Manaʻo kekahi mau kauka ʻo `MAIS` he ʻāpana ia o `PAIS` ponoʻī.

ʻO wai ka mea hiki ke loaʻa i kēia maʻi? Pehea ka maʻamau?

ʻO kēia maʻi ʻAIS ke kumu o kahi kīnā i loko o ka gene ʻAndrogen Receptor (AR)` , aia ma ka chromosome ʻX` i hoʻoili ʻia mai ka makuahine a i ke keiki. ʻOiai he gene ʻX-linked` kēia, inā he mea lawe ka makuahine i kēia gene kīnā, he 1 i loko o 4 ka manawa kūpono o kāna keiki kāne e loaʻa ai kēia maʻi ʻAIS`. Hiki i nā keiki wahine ke hoʻoilina i kēia gene kīnā, a laila e lilo pū lākou i mea lawe, akā ʻaʻole lākou e loaʻa i ka ʻAIS`.

He maʻi laha ʻole ka AIS. Hoʻopilikia ka PAIS ma kahi o hoʻokahi i loko o 99,000 mau pēpē kāne. Hoʻopilikia ka CAIS ma waena o ʻelua a me ʻelima i loko o 100,000 mau pēpē.

No ke aha lā kēia e hana nei? He aha ke kumu?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ke kumu nui o kēia he ʻano ʻē i loko o ka gene `AR` ma ka chromosome `X`. Ke hana pono ʻole kēia gene, ʻaʻole hiki i ke kino ke hana i nā mea loaʻa androgen. ʻO kēia mau mea loaʻa androgen, i ka ʻōlelo maʻalahi, nā mea e kōkua ai i nā cell o ke kino e pane i nā hormones kāne i kapa ʻia ʻo androgens (no ka laʻana , testosterone) . No laila, i ka wā e nalowale ai kēia mau mea loaʻa, ʻaʻole "ʻike" ke kino i nā hormones kāne, ʻo ia hoʻi, inā loaʻa kēlā mau hormones, ʻaʻole lākou e hana i ka mea e pono ai lākou e hana.

He aha nā hōʻailona o kēia?

ʻOkoʻa nā hōʻailona o AIS ma muli o ke ʻano. Eia nō naʻe, ʻo ka hiʻohiʻona nui i maʻamau i nā ʻano āpau ka hānau ʻole ʻana .

ʻAʻole hiki i ka poʻe me ka `CAIS` ke hāpai a hāpai paha i kā lākou hoa. ʻOiai ke ʻano o ko lākou mau ʻōpū me ko ka wahine, ʻaʻohe o lākou mau ʻōpū hānau wahine i loko. ʻAʻole paha e hiki i ka poʻe me ka `PAIS` a i ʻole `MAIS` ke hānau keiki. He ʻuʻuku loa paha kā lākou penis, a he haʻahaʻa loa a ʻaʻohe paha ka hana ʻana o ka sperm.

ʻO nā hōʻailona ʻē aʻe e ʻike ai ka poʻe me CAIS:

• Ke lilo nei i kiʻekiʻe loa ma mua o ke kaikamahine maʻamau i ka wā ʻōpio.
• Ka hala ʻole o ka menstruation (Amenorrhea) .
• I ka wā ʻōpio , he kakaikahi a ʻaʻohe lauoho paha ma nā ʻēheu a me ka wahi genital.
• Ka hāiki ʻana a i ʻole ka pāpaʻu o ka vagina .
• Noho nā testicles i loko o ka lua ʻōpū (ʻaʻole i iho i lalo).

ʻO nā hōʻailona ʻē aʻe e ʻike ʻia e ka poʻe me PAIS:

• ʻO ka bifid scrotum kahi kūlana kahi i māhele ʻia ai ka testicle i ʻelua .
• Ka hoʻonui ʻia ʻana o ka clitoris (Clitoromegaly) .
• Ka hoʻonui ʻia ʻana o nā ʻiʻo umauma i nā keikikāne (Gynecomastia) .
• ʻO Hypospadias ka wā e loaʻa ai ka puka urethral ma lalo o ka penis, ʻaʻole ma ka piko .
• Nā hoʻopili labial .
• Penis liʻiliʻi ma ke ʻano ʻē (Micropenis) .
• Nā testicles hapa i iho ʻole i lalo .

ʻO nā hōʻailona ʻē aʻe e ʻike ai ka poʻe me `MAIS`:

• Ka hoʻonui ʻana i ka umauma `(Gynecomastia)` .
• Penis liʻiliʻi (Micropenis).
• Ka liʻiliʻi loa o ka lauoho o ke kino .

Pehea ʻoe e ʻike ai i kēia?

Hiki i ke kauka ke ʻike i ka PAIS i ka wā hānau ma ka nānā ʻana i nā ʻāpana kino o ka pēpē. Eia nō naʻe, inā loaʻa i ka pēpē ʻo CAIS a i ʻole MAIS, ʻaʻole paha e ʻike ʻia a hiki i ka piha ʻana o ke keiki ma kahi o 11 a 12 paha makahiki, i ka wā e ʻōpiopio ai ka pēpē . ʻO kēia ka manawa e hiki ai i ke kauka ke haʻi inā he pilikia.

Eia kekahi laʻana, ʻaʻole paha he menstruation ko ke keiki me CAIS a ʻaʻole paha he lauoho pubic. Hiki i ke keiki me MAIS ke loaʻa kahi penis liʻiliʻi loa a i ʻole e ulu paha nā umauma. I ka wā ʻōpio, hiki i nā testicles undescended ke herniate ma kahi nāwaliwali ma ka paia ʻōpū. I kekahi manawa, ʻike nā kauka he undescended testicles ko ke keiki ke hana ʻia ke ʻoki no ka hernia inguinal .

He aha ke ʻano o nā hoʻokolohua e hana ʻia?

No ka hōʻoia ʻana i kēia kūlana `AIS`, pono ke kauka e hana i kekahi mau hoʻokolohua:

• Nā hoʻāʻo koko: Nānā kēia i nā pae hormone , nā chromosomes wahine, a me nā ʻano genetic ʻē .
• Nā hoʻokolohua kiʻi: Hiki i nā hoʻokolohua e like me ka ultrasound ke hōʻoia inā ua hoʻokumu ʻia nā ʻōpū hānau wahine.

Inā ua loaʻa i kekahi o kou ʻohana ka AIS, a ke hoʻolālā nei ʻoe e loaʻa nā keiki, he manaʻo maikaʻi ia e loaʻa ka hoʻāʻo genetic . Hiki i kēia hoʻāʻo ke haʻi iā ʻoe inā he mea lawe ʻoe i kēia gene ʻano ʻē.

He aha nā lāʻau lapaʻau no kēia?

Hoʻoholo ʻia ka lāʻau no AIS e ke kāne i hāʻawi ʻia i ka wā hānau. Hoʻomaka ka hapa nui o ka lāʻau ma hope o ka hiki ʻana o ke keiki i ka wā ʻōpio. Hāʻawi kēia i ka manawa no ke kino o ke keiki e loli i ka ulu ʻana a hiki i ke keiki ke komo nui i kā lākou mau hoʻoholo lapaʻau.

Eia nō naʻe, manaʻoʻiʻo kekahi poʻe loea olakino e pono e hana ʻia kekahi mau lāʻau lapaʻau, e like me ka wehe ʻana i nā testicles, ma mua o ka wā ʻōpio ma muli o ka pilikia o ka hoʻomohala ʻana i kahi ʻano maʻi ʻaʻai i kapa ʻia ʻo gonadoblastomas i loko o nā testicles i iho ʻole. Wahi a lākou hiki ke hana ʻia nā lāʻau lapaʻau ʻē aʻe ma hope o ka pau ʻana o ka wā ʻōpio.

Nā koho lapaʻau no nā keiki i hānai ʻia he keikikāne:

• ʻO ke ʻoki kino e hoʻoponopono i nā ʻāpana kāne. No ka laʻana, 'hypospadias repair' (ke hoʻonohonoho hou ʻana i ka puka urethral) a i ʻole 'orchiopexy' (ke hoʻonohonoho hou ʻana i nā testicles i iho ʻole i loko o ka scrotum).
• ʻO ke ʻoki hōʻemi umauma e wehe i nā ʻiʻo umauma keu.
• ʻO ke ʻoki hoʻoponopono hernia kahi hana e pani ai i nā ʻiʻo hāmama a nāwaliwali paha i loko o ka paia ʻōpū.
• ʻO ka lāʻau lapaʻau hormone Testosterone .

Nā koho lapaʻau i loaʻa no nā keiki i hānai ʻia he mau kaikamahine:

• ʻO ke ʻoki kino e wehe ai i nā ʻāpana kāne a i ʻole nā ​​​​ʻiʻo clitoral keu.
• Nā hana hoʻonui ʻana i ka vagina me ke ʻoki ʻole e hoʻohohonu ai.
• ʻO ka lāʻau lapaʻau hormone Estrogen .

Hiki ke pale ʻia kēia?

ʻAʻohe ala e pale aku ai i ka AIS. Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ke ʻano a hopohopo ʻoe e hoʻoilina paha kāu keiki i kēia gene ʻano ʻē, hiki ke hana ʻia ka hoʻāʻo genetic e ʻike ai inā he mea lawe ʻoe.

Pehea lā ka poʻe e noho nei me kēia maʻi? (ʻIke no ka Wā e Hiki Mai Ana)

Hiki i nā kānaka me AIS ke ola piha a olakino . He nui ka poʻe e pane maikaʻi i ka lāʻau lapaʻau hormone a me ke ʻoki kino. Eia nō naʻe, no ka mea pinepine ka AIS i ka hānau ʻole ʻana, hiki ke paʻakikī i ka naʻau no nā kānaka he nui. Hiki iā ia ke loaʻa ka hopena nui i ke olakino noʻonoʻo o nā keiki a me nā ʻōpio.

Inā ʻaʻohe ou gonadectomy , piʻi aʻe kou pilikia o ka loaʻa ʻana o ka maʻi ʻaʻai testicular ma kahi o 30%.

Inā loaʻa i kaʻu keiki ka AIS, pehea e hiki ai iaʻu ke kōkua?

"ʻO ka mālama ʻana i ke olakino noʻonoʻo o ke keiki he ʻāpana nui ia o ka hoʻokele ʻana i ka AIS."

Inā loaʻa i kāu keiki ka AIS, he mea nui e loaʻa kahi ʻōnaehana kākoʻo ikaika e hoʻomaopopo ai i nā kauka, nā hoaaloha, a me ka ʻohana. Hiki i ke komo ʻana i nā hui kākoʻo ke kōkua i kāu keiki e kaʻana like i ko lākou mau ʻike a me nā pilikia me nā poʻe ʻē aʻe e hele ana i ka mea like.

I ke komo ʻana o kāu keiki i ka wā ʻōpio, a hoʻomaka ʻo ia e ʻike ʻaʻole e loli ana ko lākou kino e like me ka mea i manaʻo ʻia, he mea nui loa ia e kamaʻilio me lākou e pili ana i ka AIS .

Pehea ʻoe e hana ai me ka AIS ma ke ʻano he kanaka makua?

Hiki ke paʻakikī ka noho ʻana me AIS ma ke ʻano he kanaka makua. Hiki ke paʻakikī ke loaʻa kahi ola moekolohe maʻamau, loaʻa kahi hoa e hoʻomaopopo a ʻae i kou kūlana, a hiki i ka hānau ʻole ke loaʻa ka hopena koʻikoʻi i ka noʻonoʻo o nā kānaka he nui.

Inā loaʻa iā ʻoe ka AIS, hiki ke kōkua i ke kamaʻilio ʻana me ke kākāʻōlelo a i ʻole ka mea hoʻōla e pili ana i kāu mau ʻike. Hiki iā ʻoe ke hoʻopili aku me nā poʻe ʻē aʻe nona ka AIS i nā hui kākoʻo.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

ʻO ka Androgen Insensitivity Syndrome (AIS) kahi kūlana i loaʻa ai ke kanaka he kāne maoli akā ʻaʻole ia e pane i nā hormones kāne. ʻO ka hopena, hiki i ko lākou mau ʻōpū ke like me ko ka wahine, a i ʻole he mau ʻano kāne a wahine paha. Hiki i kēia kūlana ke hana i nā pilikia like ʻole. No laila, he mea nui loa i ka poʻe me AIS ke kamaʻilio pinepine me kā lākou mau kauka a loaʻa ke kākoʻo noʻonoʻo ikaika. Me ka ʻōlelo aʻo lapaʻau kūpono a me ke kākoʻo o ka poʻe aloha, hiki i kēia poʻe ke alakaʻi i nā ola holomua.

ʻO ka maʻi Androgen insensitivity, AIS, ka ulu ʻana o ka moekolohe, nā hormones, nā maʻi genetic, nā chromosomes, ka hānau ʻole ʻana, nā ʻāpana genital, ka wā ʻōpiopio, ka hoʻāʻo ʻana i ka genetic