Syndrome insensitivity hapa androgen

ʻO ka maʻi androgen insensitivity Syndrome (PAIS) kahi maʻi i kū i nā keiki ke hiki ʻole i ko lākou kino ke pane i ke ala kūpono i nā kāne male kāne (androgens). ʻO ka testosterone ka hone kāne kāne.

ʻO kēia maʻi kahi ʻano o androgen insensitivity syndrome.

I ka 2 mua a i ka 3 mau mahina o ka hāpai ʻana, loaʻa nā pēpē āpau i nā genital like. Ke ulu nei kahi pēpē i loko o ka ʻōpū, ulu ke kāne a wahine paha e pili ana i ka paʻa o nā chromosome wahine mai nā mākua. Aia nō ia i ka pae o nā androgens. I kahi pēpē me nā chromosome XY, hana ʻia nā pae kiʻekiʻe o androgens i nā hōʻike. E ulu ana kēia pēpē i nā genital kāne. I loko o kahi pēpē me nā chromosome XX, ʻaʻohe testes a haʻahaʻa loa nā pae o androgens. E hoʻomōhala ana kēia pēpē i nā genital wahine. I PAIS, aia kahi loli i ka gen e kōkua i ke kino e ʻike a hoʻohana pono i nā kāne kāne. ʻO kēia ke alakaʻi i nā pilikia me ka hoʻomohala ʻana o nā kino kāne kāne. I ka wā hānau, loaʻa paha i ka pēpē genigu ambiguous, e alakaʻi i ka huikau ma luna o ka pēpē wahine.

Hoʻoholo ʻia ka maʻi maʻi ma waena o nā ʻohana (hoʻoilina). ʻAʻole pili ka poʻe me ʻelua chromosome X inā hoʻokahi kope o ka X chromosome e halihali i ka hoʻololi kūlohelohe. ʻO nā kāne i hoʻoilina i ka ʻāpana mai ko lākou mau makuahine e loaʻa i ke ʻano. Aia he 50% manawa kūpono e hoʻopili ʻia kahi keiki kāne a kahi makuahine me ka ʻāpana. Loaʻa i kēlā me kēia keiki wahine he 50% manawa kūpono e hāpai i ka ʻāpana. He mea nui ka mōʻaukala ʻohana i ka hoʻoholo ʻana i nā mea pilikia o ka PAIS.

Loaʻa paha i ka poʻe me PAIS nā ʻano kino kāne a wahine hoʻi. Pākuʻi ʻia kēia mau mea:

• ʻO nā genitalia kāne maʻamau, e like me ka urethra ma ka ʻaoʻao ma lalo o ka peni, penis liʻiliʻi, scrotum liʻiliʻi (me kahi laina i lalo o ka waena a i ʻole pani paʻa ʻia), a i ʻole nā ​​testicle undescended
• Hoʻonui i ka umauma i nā kāne i ka wā ʻōpio. Hoemi i ka lauoho o ka kino a me ka ʻumiʻumi, akā ʻo ka lauoho pubic maʻamau a me ka armpit.
• Ka hana pono ʻole o ka moekolohe a me ka infertility.

E hana ka mea mālama ola i kahi hoʻokolohua kino.

E komo pū paha nā hoʻāʻo:

• Nā hoʻokolohua koko e nānā i nā pae o nā kāne a me nā hormones wahine
• Nā hoʻāʻo genetic e like me karyotyping e nānā i nā chromosome
• Heluhelu sperma
• ʻO Biopsy hōʻikeʻike
• Pelvic ultrasound e nānā inā aia nā mea hānau wahine

Hāʻawi ʻia nā pēpē me PAIS i kāne kāne e like me ka nui o ka maopopo ʻole o ka genital. Eia nō naʻe, he pilikia paʻakikī ka hāʻawi kāne kāne a pono e noʻonoʻo pono ʻia. ʻO nā ʻano hana kūpono no PAIS me:

• No ka poʻe i hāʻawi ʻia he kāne, hana ʻia ke kaha ʻana e hōʻemi i nā umauma, hoʻoponopono i nā mea hōʻike hewa ʻole, a i ʻole hoʻololi hou i ka peni. Hiki iā lākou ke loaʻa i nā androgens e kōkua i ka lauoho lauoho e ulu a hoʻonui i ka leo.
• No ka poʻe i hoʻokau ʻia ma ke ʻano he wahine, hiki ke hana ʻia ke kāʻoki e hemo i nā testicle a hoʻoponopono hou i nā genital. Hāʻawi ʻia ka wahine estrogen wahine i ka wā ʻōpio.

Hiki i nā hui aʻe ke hāʻawi i ka ʻikepili hou aʻe ma PAIS:

• Intersex Society of North America - www.isna.org/faq/conditions/pais
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome

He mea nui ka Androgens i ka wā o ka ulu mua ʻana i ka ʻōpū. Hiki i nā poʻe me PAIS ke loaʻa i kahi ola maʻamau a olakino loa, akā paʻakikī paha lākou i ka hāpai keiki ʻana. I nā hihia koʻikoʻi loa, hiki i nā keikikāne me nā ʻāpana wahine o waho a i ʻole kahi peni liʻiliʻi loa ke loaʻa nā pilikia psychological a me ka naʻau.

Pōmaikaʻi paha nā keiki me PAIS a me ko lākou mau mākua i ke aʻo ʻana a me ka mālama ʻana mai kahi kime mālama olakino e komo pū nā loea ʻokoʻa.

Kāhea i kāu mea hāʻawi inā ʻo ʻoe, kāu keikikāne, a i ʻole he lālā ʻohana kāne kāne he infertility a i ʻole hoʻomohala piha ʻole i nā genital kāne. Paipai ʻia ka hoʻāʻo genetic a me nā ʻōlelo aʻoaʻo inā kuhi ʻia ʻo PAIS.

Loaʻa ka hoʻāʻo prenatal. Pono nā poʻe me ka mōʻaukala ʻohana o PAIS e noʻonoʻo i nā ʻōlelo aʻoaʻo kūpuna.

PAISA; Androgen insensitivity syndrome - hapa; Hoʻopiha piha ʻole i ka hoʻomeamea testicular; ʻAno I familial piha ʻole pseudohermaphroditism kāne; Lubs maʻi maʻi; Reifenstein maʻi; Rosewater maʻi

• ʻŌnaehana hānau kāne

Achermann JC, Hughes IA. Nā maʻi Pediatric o ka ulu wahine. I: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. ʻO Williams Textbook of Endocrinology. 13th ed. Piladelapia, PA: Elsevier; 2016: chap 23.

Shnorhavorian M, Fechner PY. Nā maʻi o ka ʻokoʻa moekolohe. I: Gleason CA, Juul SE, eds. Nā maʻi o Avery o ke keiki hānau. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 97.