ʻO Androgen insensitivity syndrome

ʻO Androgen insensitivity syndrome (AIS) kahi ke kūpaʻa ke kanaka genetically male (nona hoʻokahi X a me hoʻokahi Y chromosome) i nā homone kāne (i kapa ʻia ʻo androgens). ʻO ka hopena, loaʻa i ke kanaka kekahi ʻano o ke kino o ka wahine, akā ʻo ka hanauna kūlohelohe o ke kāne.

Hoʻokumu ʻia ʻo AIS e nā kīnā kūpuna ma ka X chromosome. ʻAʻole hiki i kēia mau hemahema ke pane i ke kino i nā hormoni e hana i kahi ʻano kāne.

Māhele ʻia ka maʻi i ʻelua mau papa nui:

• Hoʻopiha AIS
• AIS hapa

I ka AIS piha, ʻaʻole e hoʻomohala ka penis a me nā ʻāpana kino kāne ʻē aʻe. I ka hānau ʻana, he kaikamahine ke ʻano o ke keiki. Loaʻa ka hana piha o ka maʻi maʻi i ka 1 i ka 20,000 mau hānau hānau.

I ka hapa AIS, he ʻokoʻa ka helu o nā kāne i nā kāne.

Hiki i ka AIS hapa ke hoʻopili i nā maʻi ʻē aʻe, e like me:

• ʻO ka hāʻule ʻole o hoʻokahi a i ʻole nā ​​hōʻike ʻelua e iho i lalo i ka scrotum ma hope o ka hānau ʻana
• ʻO Hypospadias, kahi kūlana kahi o ka wehe o ka urethra ma ka ʻaoʻao lalo o ka peni, ma kahi o ka piko
• ʻO Reifenstein Syndrome (ʻo ia hoʻi ʻo Gilbert-Dreyfus Syndrome a i ʻole Lubs Syndrome)

Manaʻo ʻia ʻo Infertile kāne syndrome he ʻāpana o ka hapa AIS.

ʻO kekahi kanaka me ka AIS piha he wahine akā ʻaʻohe ona pūpū. Heʻuʻuku lākou i ka armpit a me ka lauoho pubic. I ka wā ʻōpio, hoʻomohala ʻia nā ʻano wahine (e like me nā umauma). Eia naʻe, ʻaʻole menstruate ke kanaka a lilo i momona.

ʻO ka poʻe me ka AIS hapa paha he ʻano kino kāne a wahine hoʻi. He hapa ka hapa o ka puka waho o waho, kahi clitoris hoʻonui ʻia, a me kahi ʻōpū pōkole.

Aia paha:

• ʻO kahi ʻōpū akā ʻaʻohe cervix a i ʻole uterus
• ʻO ka hernia Inguinal me nā hōʻike i hiki ke ʻike ʻia i ka wā o kahi hoʻokolohua kino
• Nā poli wahine maʻamau
• Nā hoʻāʻo i loko o ka ʻōpū a i ʻole nā ​​wahi atypical ʻē aʻe i ke kino

ʻAʻoleʻike iki ʻia ʻo AIS piha i ka wā kamaliʻi. I kekahi manawa, ʻike ʻia kahi ulu i loko o ka ʻōpū a i ʻole ke aʻa e lilo i testicle ke nānā ʻia me ke ʻoki. ʻO ka hapa nui o ka poʻe me kēia ʻano ʻaʻole e ʻike ʻia a hiki i ka wā e loaʻa ʻole ai ka manawa menstrual a pilikia paha lākou i ka hāpai ʻana.

ʻIke pinepine ʻia kahi AIS i ka wā kamaliʻi no ka mea he kāne a he wahine paha ke ʻano o ke kino o ke kanaka.

ʻO nā hoʻokolohua i hoʻohana ʻia e kuhikuhi i kēia ʻano hiki ke hoʻopili ʻia:

• ʻO ka hana koko e nānā i nā pae o ka testosterone, ka hormone luteinizing (LH), a me ka hormone stimulate stimulus (FSH)
• ʻO ka hoʻāʻo genetic (karyotype) e hoʻoholo ai i ka hanauna kūlohelohe o ke kanaka
• Pelvic ultrasound

Hana ʻia paha nā hoʻokolohua koko ʻē aʻe e kōkua i ka ʻokoʻa ma waena o AIS a me androgen deficit.

ʻAʻole hiki ke hoʻoneʻe ʻia nā hōʻike hōʻike hewa ma kahi hewa a hiki i ka hoʻopau ʻana o kahi keiki e ulu a hele i ka wā ʻōpio. I kēia manawa, hemo paha nā hōʻike no ka mea hiki iā lākou ke hoʻomohala i ka maʻi ʻaʻai, e like me nā hōʻike.

Hoʻopaʻa paha ka Estrogen pani ma hope o ka ʻōpio.

Hiki i ka mālama ʻana a me ka hana kāne kāne ke lilo i pilikia nui, a pono e hoʻokumu ʻia i kēlā me kēia kanaka.

ʻO ka nānā no AIS piha inā maikaʻi ke lawe ʻia kaʻiʻo testicle i ka manawa kūpono e pale aku ai i ka maʻi ʻaʻai.

Komo pū nā pilikia:

• Hoʻoipo
• Nā pilikia Psychological a me nā pilikanaka
• Ka maʻi ʻaʻai testicular

Kāhea i kāu mea mālama ola inā he hōʻailona a hōʻailona paha kāu o kāu keiki.

Hoʻohālikelike wahine

• Anatomia hānau kāne
• Anatomia hānau wahine
• Anatomia hānau wahine
• Karyotyping

Chan Y-M, Hannema SE, Achermann JC, Hughes IA. Nā maʻi o ka hoʻomohala moekolohe. I: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. ʻO Williams Textbook of Endocrinology. 14th ed. Piladelapia, PA: Elsevier; 2020: chap 24.

Donohoue PA. Nā maʻi o ka hoʻomohala moekolohe. I: 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 606.

Yu RN, Daimana DA. Nā maʻi o ka hoʻomohala moekolohe: etiology, loiloi, a me ka hoʻokele olakino. I: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Piladelapia, PA: Elsevier; 2021: chap 48.