Ke pilikia nei kāu keiki me ka ulu ʻana o ka moekolohe? E aʻo e pili ana i ka Swyer Syndrome (XY Gonadal Dysgenesis)

Ua lohe paha ʻoe i kahi kanaka me nā chromosomes XY i hānau ʻia he kaikamahine? He mea kupanaha ia, ʻeā? Akā, hiki nō ia. Ua kapa ʻia kēia maʻi kakaikahi ʻo Swyer Syndrome. Nui paha kāu mau nīnau i loko o kou manaʻo. E kamaʻilio kākou e pili ana i nā mea āpau me nā kikoʻī.

He aha ka maʻi Swyer?

I ka ʻōlelo maʻalahi, ʻo Swyer Syndrome kahi kūlana kahi i XY ai nā chromosomes o ke kanaka, ʻo ia hoʻi he kāne lākou, akā he wahine ko lākou mau genitalia waho. ʻO ka maʻamau, ke loaʻa nā chromosomes XY, ulu kahi penis a me ka scrotum. Eia nō naʻe, ulu ka poʻe me Swyer Syndrome i kahi vagina, uterus, a me nā fallopian tubes.

ʻAʻohe o kēia poʻe i nā kelepa moe kolohe, ʻo ia hoʻi, nā ovaries a i ʻole nā ​​testicles. Akā, he ʻāpana ʻiʻo ʻeha ko lākou i hana ʻole iki. Ua kapa ʻia kēia e nā kauka he streak gonads. Ma muli o kēia, ʻaʻole lākou e hele i ka wā ʻōpio ke ʻole lākou e loaʻa i ka lāʻau hoʻololi hormone . ʻAʻole hoʻi iā lākou ka hiki ke hāpai maoli. Eia nō naʻe, hiki ke loaʻa kahi keiki ma o nā ʻano hana e like me ka hāʻawi hua manu .

ʻO kekahi inoa no Swyer Syndrome ʻo XY gonadal dysgenesis. Maanei, pili ʻo "gonadal" i nā gonads, a pili ʻo "dysgenesis" i ka "ulu ʻana maʻamau ʻole." Hāʻule kēia kūlana i loko o ka māhele o intersex. Kapa nā kauka he maʻi o ka ulu ʻana o ka moekolohe, a i ʻole he maʻi o ka ulu ʻana o ka moekolohe (DSD) .

Pehea ka maʻamau o ka Swyer Syndrome?

He maʻi laha ʻole kēia. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 80,000 mau pēpē i hānau ʻia. No laila hiki iā ʻoe ke noʻonoʻo i ka haʻahaʻa o ka pakeneka.

He aha nā hōʻailona o kekahi kanaka me ka Swyer Syndrome?

Hoʻomaopopo pinepine ʻia kēia maʻi i ka wā ʻōpio , ma kahi o ka wā ʻōpio. Hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka, akā aia kekahi mau hōʻailona maʻamau:

• Ua emi a ʻaʻohe paha ka ulu ʻana o ka umauma .
• ʻO ka loaʻa ʻole o ka menstruation o kēlā me kēia mahina (amenorrhea) .
• Ke kiʻekiʻe nei ma mua o nā poʻe ʻē aʻe o ka makahiki like.
• ʻAʻohe a he liʻiliʻi paha ka ulu ʻana o ka lauoho ma nā wahi e like me nā ʻēheu a me nā wahi pilikino.

E noʻonoʻo, he 14 a 15 paha makahiki o kāu kaikamahine i kēia manawa. Ua hiki kāna mau hoaaloha a pau i ka wā ʻōpio a ua hoʻomaka ka menstruation. Akā, ʻaʻole ʻokoʻa kāu kaikamahine. ʻOi aku kona kiʻekiʻe ma mua o nā keiki ʻē aʻe, akā, ʻaʻole hōʻike kona mau umauma i nā hōʻailona o ka ulu ʻana. ʻO kēia ka manawa e kānalua ai nā mākua a me ke keiki no kēia.

He aha ke kumu o ka Swyer Syndrome?

ʻAʻole ʻike mau ʻia ke kumu kikoʻī o kēia ʻano . Eia nō naʻe, ma muli o ka noiʻi o kēia manawa, manaʻoʻiʻo nā loea ua hoʻokumu ʻia ke ʻano e nā mutations i loko o nā genes e hoʻopilikia i ka hoʻokaʻawale ʻana o ke kāne. I ka ʻōlelo maʻalahi, ʻo kēlā me kēia loli i kekahi gene e kōkua i ka ulu ʻana o nā testicles hiki ke hana i ka Swyer Syndrome.

Ua hoʻoilina kekahi poʻe i kēia maʻi mai ko lākou mau mākua mai . ʻAʻole paha i ʻike ko lākou mau mākua he mutation ko lākou i loko o kekahi o kā lākou mau genes. No kekahi poʻe, hiki ke hana maʻamau ʻole, ʻo ia hoʻi, hana ʻia kahi mutation gene hou me ke kumu ʻole.

Hoʻokumu ʻia ka Swyer Syndrome e kahi mutation i loko o kahi gene i kapa ʻia ʻo SRY (Sex-determining Region Y), ka mea e hoʻopilikia i 15% a 20% o nā kānaka. Manaʻo nā kānaka genetics ʻo ka gene SRY ke kuleana no ke kōkua ʻana i nā ʻiʻo i hoʻokaʻawale ʻole ʻia e ulu i loko o nā testicles. Inā hoʻololi ʻia ka gene SRY, ʻaʻole hana pono kēia kaʻina hana, a ʻaʻole loa e ulu nā testicles.

Eia kekahi, hiki ke hana ʻia ka Swyer Syndrome e nā loli i nā genes e hiki mai ana:

• MAP3K1
• DHH
• NR5A1

Me he mea lā he paʻakikī iki kēia mau genes, akā ʻo ia kekahi o nā genes nui e pili ana i ka ulu ʻana o ka moekolohe.

He aha nā pilikia e hiki ke loaʻa mai ka Swyer Syndrome?

ʻElua mau pilikia nui e hiki ke kū mai mai kēia ʻano:

• ʻO ka puʻupuʻu Gonadal: Ma kahi o 30% o ka poʻe me Swyer Syndrome e hoʻomohala i kahi puʻupuʻu i loko o nā gonads, ʻo ia hoʻi nā ʻiʻo ʻeha e hana ʻia ma kahi o nā ovaries. ʻO ke ʻano maʻamau o ka puʻupuʻu he ʻano puʻupuʻu i kapa ʻia he gonadoblastoma . ʻOiai he puʻupuʻu maikaʻi ʻole ka gonadoblastoma, manaʻo nā kauka he mea ia e hoʻomaka ai i nā puʻupuʻu ʻino. No laila, ma ke ʻano he hana pale, ʻōlelo pinepine nā kauka i ka wehe ʻana i nā kaha gonadal. ʻOiai he mea weliweli iki kēia, he mea nui e pale i kahi pilikia nui aʻe i ka wā e hiki mai ana.

• Osteoporosis: Inā ʻaʻole mālama ʻia, hiki i ka Swyer Syndrome ke hoʻonāwaliwali i kou mau iwi. I ka hala ʻana o ka manawa, hiki i kēia ke alakaʻi i ka osteoporosis.Hiki i ka lāʻau hoʻololi hormone ke kōkua i ka pale ʻana i ka lahilahi o ka iwi a me ka pohō o ka iwi.

Pehea e ʻike ʻia ai ka maʻi Swyer?

I kekahi manawa, hiki i nā kauka ke ʻike i ke kūlana ma mua a i ka wā hānau paha. Akā, ʻaʻole ʻike ka nui o ka poʻe ua loaʻa iā lākou a hiki i ka wā ma hope, i ka wā ʻaʻole lākou i hiki i ka wā ʻōpio e like me ka mea i manaʻo ʻia.

Ke hele ʻoe e ʻike i ke kauka, e hana mua ʻo ia i kahi hoʻokolokolo kino a nīnau e pili ana i kou mōʻaukala olakino. A laila, hiki iā lākou ke kauoha i nā hoʻokolohua like ʻole e aʻo hou e pili ana i ke anatomy kūloko o kou kino a me ke ʻano chromosomal. ʻO kekahi o kēia mau mea:

• Hoʻāʻo Karyotype: ʻAe kēia iā ʻoe e ʻike i ke ʻano kikoʻī o kāu mau chromosomes.
• Ka hoʻāʻo ʻana i ka genetic: Hiki i kēia ke ʻike inā he mau mutations i loko o nā genes.
• ʻO ke kani ultrasound Pelvic: Hiki i kēia ke nānā i ke kūlana o nā ʻōpū o loko e like me ka uterus a me nā ovaries (a i ʻole nā ​​​​gonad streak e pani iā ​​​​lākou).
• ʻO ke kiʻi MRI (Magnetic Resonance Imaging): Hiki i kēia ke hāʻawi i kahi kiʻi maopopo o nā ʻōpū o loko.

ʻOiai paha he mea paʻakikī kēia mau hoʻokolohua, ʻo ia ka mea e kōkua ai i ka hana ʻana i ka hōʻoia pololei.

Pehea e mālama ʻia ai ka Swyer Syndrome?

ʻAʻole hiki ke ho'ōla loa ʻia ka maʻi Swyer. No laila, ʻo nā pahuhopu nui o ka mālama ʻana, ʻo ia ka mālama ʻana i nā hōʻailona makemake ʻole ʻia, e hoʻoikaika i kou mau iwi, a e hōʻemi i kou pilikia o ka maʻi kanesa. No kēia hopena, hiki i kāu kauka ke ʻōlelo i kēia mau mea:

• ʻO ke ʻoki kino e wehe i nā kaha gonadal: E like me kaʻu i ʻōlelo ai ma mua, he mea nui kēia e hōʻemi i ka pilikia o nā ʻōpū.
• Lapaʻau hoʻololi hormone: Hiki i kēia ke kōkua i ka hoʻihoʻi ʻana i ka menstruation, kōkua i ka ulu ʻana o ka umauma, a pale i ka osteoporosis. ʻO ka maʻamau, pili ia i ka hāʻawi ʻana i nā hormones wahine.

He aha kaʻu e hana ai inā loaʻa i kaʻu keiki ʻo Swyer Syndrome?

ʻAʻole he manawa maʻalahi ka wā ʻōpio no kekahi. No ke keiki me ka Swyer Syndrome, ʻo ia ka manawa e hoʻomaka ai lākou e ʻike he ʻokoʻa ko lākou kino mai ko lākou mau hoa. Hiki i kēia ke loaʻa ka hopena nui i ke olakino noʻonoʻo o ke keiki.

Nui paha nā manaʻo o kāu keiki e pili ana i kēia. E kamaʻilio ākea me lākou . He manaʻo maikaʻi paha ke ʻimi i ke kōkua o kahi kākāʻōlelo e kōkua iā lākou e hoʻoponopono i kēia mau manaʻo paʻakikī. E hoʻomanaʻo, he mea nui loa kou aloha, kākoʻo, a me kou hoʻomaopopo ʻana i kāu keiki i kēia manawa.

Mea nui:I ka wehewehe ʻana i kēia kūlana i kāu keiki, e hoʻomaopopo ʻaʻole lākou he "kīnā". ʻAʻole kēia ko lākou hewa, he ʻokoʻa wale nō ia i ke ʻano o ka ulu ʻana o ko lākou kino.

He aha ke kūlana o ke ola o kekahi kanaka me ka Swyer Syndrome?

E hōʻoluʻolu paha ʻoe i ka lohe ʻana i kēia. ʻO ke ola o ka poʻe me Swyer Syndrome ua like ia me ka poʻe me ka ʻole o ke ʻano . Inā mālama pono ʻia, ʻaʻole ia e hoʻopilikia i ke ola o kāu a i ʻole kāu keiki ma kekahi ʻano.

Hiki ke pale ʻia ka Swyer Syndrome?

He maʻi hoʻoilina ka Swyer Syndrome. No laila, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai. ʻAʻole ia he hewa o kekahi.

Āhea wau e ʻike ai i ke kauka?

• Inā he wahine ʻoe a ʻaʻole i hoʻomaka kou menstruation ma ka piha ʻana o kou mau makahiki 16 , pono ʻoe e ʻike i ke kauka.
• Inā he makua ʻoe a manaʻo ʻoe ua lohi kāu keiki i ka wā ʻōpio , e kamaʻilio me ke kauka pediatric o kāu keiki. Hiki iā lākou ke nānā i ka ulu ʻana o kāu keiki a haʻi iā ʻoe inā pono ka lāʻau lapaʻau.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Inā ua ʻike ʻia ʻoe me Swyer Syndrome, makemake paha ʻoe e nīnau i kāu kauka i nā nīnau e like me:

• Hiki iā ʻoe ke haʻi mai iaʻu i ke kumu o ka hoʻololi ʻana o ka gene i kēia maʻi?
• Āhea wau a i ʻole kaʻu keiki e hoʻomaka ai i ka lāʻau hoʻololi hormone?
• E pono anei iaʻu a i ʻole kaʻu keiki i ke ʻoki kino? Inā pēlā, āhea?
• Pono anei ke koena o koʻu ʻohana e hana i ka hoʻāʻo genetic?
• He aha nā kumuwaiwai ʻē aʻe āu e paipai ai? (e.g., nā lawelawe aʻoaʻo, nā hui kākoʻo)

He mea maʻamau ke manaʻo huikau a kānalua ke ʻike ʻoe he Disorder of Sexual Development (DSD) kāu keiki. E ʻike paha ʻoe he Swyer Syndrome kāu keiki, he kūlana intersex, i ka wā ʻōpio, ʻoiai inā ʻaʻole hōʻike ko lākou mau hoa i kēia mau ʻano i ko lākou wā ʻelemakule.

ʻO ka mea hope loa, leka lawe i ka home

ʻO ka mea maikaʻi loa, hiki ke mālama ʻia ka Swyer Syndrome me ka lāʻau lapaʻau . Hiki i kāu kauka ke hana i kahi hoʻolālā lapaʻau pilikino nou a i ʻole kāu keiki. Hiki iā lākou ke kuhikuhi iā ʻoe i nā kumuwaiwai e hiki ke kōkua i kāu keiki e ola kūleʻa me ke ʻano.

Mai makaʻu. ʻAʻole ʻoe hoʻokahi.He nui ka poʻe e noho nei me kēia maʻi. Me ke aʻo lapaʻau kūpono, ke kākoʻo, a me ka hoʻomaopopo ʻana, hiki i kekahi me Swyer Syndrome ke ola i kahi ola olakino a hauʻoli. ʻO ke kī, ʻo ia ka ʻimi koke ʻana i ke aʻo lapaʻau a hahai i ka lāʻau i ʻōlelo ʻia.

ʻO ka maʻi Swyer, XY Gonadal Dysgenesis, ka ulu ʻana o ka moekolohe, nā hormones, nā hoʻololi genetic, ka wā ʻōpiopio, intersex, DSD