Ingabe kukhona umehluko ekukhuleni kocansi kwengane yakho? Ake sixoxe nge-Androgen Insensitivity Syndrome!

Uma ingane ikhula esibelethweni, ngezinye izikhathi izinto ezincane azihambi ngendlela obekulindelekile. Ezinye izingane zingase zibe nezinkinga ezincane ngezitho zazo zangasese lapho zizalwa. Noma, imizimba yazo ingase ingashintshi njengoba bekulindelekile lapho zifika esikhathini sokuthomba. Ngezikhathi ezinjalo, singacabanga ngesimo esibizwa ngokuthi `(Androgen Insensitivity Syndrome)`. Ungakhathazeki, sizoxoxa ngalokhu kalula, ngendlela ongayiqonda.

Iyini i-Androgen Insensitivity Syndrome?

Kalula nje, i-Androgen Insensitivity Syndrome (AIS) yisimo lapho ingane ingumuntu wesilisa ngokwezakhi zofuzo (okungukuthi, ine-chromosome engu-X kanye ne-chromosome engu-Y), kodwa umzimba wayo awusabeli kahle kuma-hormone ocansi wesilisa, ama-androgen . Cabanga ngale ndlela: kunezicabha ezincane emizimbeni yethu ezithumela imiyalezo emaseli, futhi zisabela kula ma-hormone. Kumuntu one-AIS, lezi zicabha azisebenzi kahle.

Odokotela bakubiza lokhu ngokuthi ukuphazamiseka kokuhlukanisa ubulili . Kwakubizwa ngokuthi i-testicular feminization syndrome, kodwa lelo gama alisasetshenziswa. Lesi simo sithinta indlela izitho zobulili zengane ezikhula ngayo ngesikhathi zisesesibelethweni. Siphinde sithinte ukukhula kwezici zobulili okufanele zenzeke ngesikhathi sokuthomba. Ngokuvamile, abantu abanalesi simo abakwazi ukuba nezingane njengoba sebekhulile (ukungazali) .

Ingabe kunezinhlobo ezahlukene zalokhu?

Yebo, kunezinhlobo ezintathu eziyinhloko ze-'AIS'. Uhlobo ngalunye lunezici ezihlukile kancane.

1. I-Complete Androgen Insensitivity Syndrome (CAIS):

• Laba bantu babukeka njengamantombazane ngaphandle. Okusho ukuthi, izitho zabo zangasese zibukeka njengezentombazane.
• Kodwa-ke, azinazo izitho zangasese zangaphakathi zabesifazane (okungukuthi ama-ovari, amashubhu e-fallopian, isibeletho).
• Esikhathini esiningi, abantu abane-'CAIS' bakhuliswa bengamantombazane.

2. I-Partial Androgen Insensitivity Syndrome (PAIS):

• Izitho zabo zangasese zangaphandle zingase zingakhuli ngokugcwele njengezomfana, noma zingase zibukeke njengezentombazane, noma zingase zibe nengxube yazo zombili, okwenza kube nzima ukuzibona ngokucacile njengezisilisa noma zesifazane (izitho zangasese ezingacacile).
• Abantu abane-'PAIS' ngezinye izikhathi bakhuliswa njengabafana futhi ngezinye izikhathi njengamantombazane.

3. I-Mild Androgen Insensitivity Syndrome (MAIS):

• Izitho zabo zangasese zifana nezengane yomfana.
• Kodwa-ke, ngokuvamile abakwazi ukuba nezingane (ukungazali). Abanye odokotela babheka i-'MAIS' njengengxenye ye-'PAIS' uqobo.

Ubani ongaba nalesi simo? Sivame kangakanani?

Lesi simo se-'AIS' sibangelwa yiphutha ku-'Androgen Receptor (AR) gene' , eliku-'X' chromosome edluliselwa kusuka kumama iye enganeni. Njengoba lesi kuyi-'X-linked' gene, uma umama engumthwali walesi sici se-gene, ingane yakhe yesilisa inethuba elilodwa kwabane lokuthuthukisa lesi simo se-'AIS'. Izingane zesifazane nazo zingazuza lesi sici se-gene, bese nazo zizoba ngabathwali, kodwa ngeke zibe yi-'AIS'.

I-AIS iyisimo esingavamile kakhulu . I-PAIS ithinta cishe ingane eyodwa kwabesilisa abangu-99,000. I-CAIS ithinta izingane eziphakathi kwamabili kuya kwayisihlanu kwayi-100,000.

Kungani lokhu kwenzeka? Iyini imbangela?

Njengoba sishilo ngaphambili, isizathu esiyinhloko salokhu ukungajwayelekile kwesakhi sofuzo i-`AR` ku-chromosome i-`X`. Uma lesi sakhi sofuzo singasebenzi kahle, umzimba awukwazi ukwenza ama-androgen receptors. Lawa ma-androgen receptors, kafushane nje, ayizinto ezisiza amangqamuzana omzimba ukuthi aphendule kuma-hormone wesilisa abizwa ngokuthi ama-androgens (isibonelo , i-testosterone) . Ngakho-ke, uma la ma-receptor engekho, umzimba "awuwaqapheli" ama-hormone wesilisa, okusho ukuthi noma lawo ma-hormone ekhona, awakwenzi lokho okufanele akwenze.

Ziyini izimpawu zalokhu?

Izimpawu ze-AIS ziyahlukahluka kuye ngohlobo. Kodwa-ke, isici esiyinhloko esivamile kuzo zonke izinhlobo ukungazali .

Abantu abane-'CAIS' abakwazi ukukhulelwa noma ukukhulelwa abalingani babo. Nakuba izitho zabo zobulili zifana nezowesifazane, abanazo izitho zokuzala zangaphakathi zabesifazane. Abantu abane-'PAIS' noma 'MAIS' nabo cishe abakwazi ukuba nezingane. Bangase babe nepenis encane kakhulu, futhi ukukhiqizwa kwesidoda kungaba kuncane kakhulu noma kungabikho.

Ezinye izimpawu abantu abane-CAIS abangase bazibone zifaka:

• Ukuba mude ngendlela engavamile kunentombazane evamile ngesikhathi sokuthomba.
• Ukungabikho kokuya esikhathini (i-Amenorrhea) .
• Ngesikhathi sokuthomba , izinwele zincane kakhulu noma azikho nhlobo emakhwapheni nasezindaweni zangasese.
• Ukuncishiswa noma ukujula kwesitho sangasese sowesifazane .
• Amasende ahlala esiswini (awaphansi).

Ezinye izimpawu abantu abane-PAIS abangase bazibone zifaka:

• I-Bifid scrotum yisimo lapho i-testicle ihlukaniswe kabili .
• Ukwanda kwe-clitoris (i-clitoromegaly) .
• Ukwanda kwezicubu zebele kubafana (i-Gynecomastia) .
• I-Hypospadias yilapho imbobo ye-urethra itholakala ngaphansi kwepenis, hhayi esicongweni .
• Ukunamathela kwe-labial .
• Ipenisi encane ngendlela engavamile (iMicropenis) .
• Amasende angakhuli kahle .

Ezinye izimpawu abantu abane-'MAIS' abangase bazibone:

• Ukukhulisa amabele `(Gynecomastia)` .
• Ipenisi encane (iMicropenis).
• Ukuba nezinwele ezincane kakhulu emzimbeni .

Ukubona kanjani lokhu?

Udokotela angathola i-PAIS ngesikhathi sokuzalwa ngokubheka izitho zangasese zomntwana. Kodwa-ke, uma umntwana ene-CAIS noma i-MAIS, ingase ingatholakali kuze kube yilapho ingane ineminyaka engaba ngu-11 noma engu-12 ubudala, lapho ingane isesikhathini sokuthomba . Yilapho udokotela engabona khona ukuthi kunenkinga.

Isibonelo, ingane ene-CAIS ingase ingabi nesikhathi noma ingabi nezinwele zesitho sangasese. Ingane ene-MAIS ingase ibe nepenis encane kakhulu noma ingase ikhule amabele. Ngesikhathi sokuthomba, amasende angakavuki angavela endaweni ebuthakathaka odongeni lwesisu. Ngezinye izikhathi, odokotela bathola ukuthi ingane inamasende angakavuki lapho ihlinzwa i-hernia ye-inguinal .

Hlobo luni lokuhlolwa okwenziwayo?

Ukuqinisekisa lesi simo se-'AIS', udokotela kuzodingeka enze izivivinyo eziningana:

• Ukuhlolwa kwegazi: Lokhu kuhlola amazinga ama-hormone , ama-chromosome ocansi, kanye nokukhubazeka kwezakhi zofuzo .
• Ukuhlolwa kwezithombe: Ukuhlolwa okufana ne-ultrasound kungaqinisekisa ukuthi izitho zokuzala zesifazane zakhekile yini.

Uma othile emndenini wakho eke waba ne-AIS, futhi uhlela ukuba nezingane, kuwumqondo omuhle ukuthola ukuhlolwa kofuzo . Lokhu kuhlolwa kungakutshela ukuthi ungumthwali walesi sakhi sofuzo esingavamile.

Yiziphi izindlela zokwelapha lokhu?

Ukwelashwa kwe-AIS kunqunywa ubulili obunikezwayo lapho umntwana ezalwa. Ukwelashwa okuningi kuqala ngemva kokuba ingane ifinyelele ebusheni. Lokhu kuvumela isikhathi sokuba umzimba wengane ubhekane nezinguquko zokukhula futhi kuvumela ingane ukuthi ihileleke kakhulu ezinqumweni zayo zokwelashwa.

Kodwa-ke, abanye ochwepheshe bezempilo bakholelwa ukuthi ezinye izindlela zokwelapha, njengokususwa kwamasende, kufanele zenziwe ngaphambi kokuthomba ngenxa yengozi yokuthola uhlobo lomdlavuza olubizwa ngokuthi i-gonadoblastomas kumasende angakathombi. Bathi futhi ezinye izindlela zokwelapha zingenziwa ngemva kokuthomba sekuphelile.

Izindlela zokwelapha izingane ezikhuliswe njengabafana:

• Ukuhlinzwa kokulungisa izitho zangasese zabesilisa. Isibonelo, `ukulungiswa kwe-hypospadias` (ukuhlelwa kabusha kokuvulwa komchamo) noma `i-orchiopexy` (ukuhlelwa kabusha kwamasende angavukile angene esikhwameni).
• Ukuhlinzwa kokunciphisa amabele ukuze kususwe izicubu zebele ezisele.
• Ukuhlinzwa kokulungisa i-Hernia inqubo yokuvala izicubu ezivulekile noma ezibuthakathaka odongeni lwesisu.
• Ukwelashwa ngama-hormone e-testosterone .

Izindlela zokwelapha ezitholakalayo ezinganeni ezitholwa njengamantombazane:

• Ukuhlinzwa kokususa izitho zangasese zowesilisa noma izicubu ze-clitoral ezisele.
• Izindlela zokukhulisa isitho sangasese sowesifazane ngaphandle kokuhlinzwa ukuze kujuliswe isitho sangasese sowesifazane.
• Ukwelashwa ngama-hormone e-estrogen .

Ingabe lokhu kungavinjelwa?

Ayikho indlela yokuvimbela i-AIS. Kodwa-ke, uma othile emndenini wakho enalesi simo futhi ukhathazekile ngokuthi ingane yakho ingase izuze lesi sakhi sofuzo esingavamile, ukuhlolwa kofuzo kungenziwa ukuze kutholakale ukuthi ungumthwali waso yini.

Banjani labo abaphila nalesi simo? (Umbono Wesikhathi Esizayo)

Abantu abane-AIS bangaphila impilo egcwele nenempilo . Abaningi basabela kahle ekwelashweni nasekuhlinzweni kwama-hormone. Kodwa-ke, ngenxa yokuthi i-AIS ivame ukubangela ukungazali, ingaba nzima ngokomzwelo kubantu abaningi. Kungaba nomthelela omkhulu empilweni yengqondo yezingane kanye nabantu abadala abasebasha.

Uma ungenayo i-gonadectomy , ingozi yakho yokuba nomdlavuza wamasende iyanda cishe ngo-30%.

Uma ingane yami ine-AIS, ngingasiza kanjani?

"Ukunakekela impilo yengqondo yengane kuyingxenye enkulu yokuphatha i-AIS."

Uma ingane yakho ine-AIS, kubalulekile ukuba nohlelo oluqinile lokusekela lokuqonda odokotela, abangani, nomndeni. Ukujoyina amaqembu okusekela kungasiza ingane yakho ukuthi yabelane ngolwazi lwayo kanye nezinselele nabanye ababhekene nento efanayo.

Njengoba ingane yakho ingena ekuthombeni, futhi iqala ukuqaphela ukuthi umzimba wayo awushintshi njengoba kulindelekile, kubaluleke kakhulu ukukhuluma nayo nge-AIS .

Ubhekana kanjani ne-AIS njengomuntu omdala?

Ukuhlala ne-AIS njengomuntu omdala kungaba yinselele. Kungaba nzima ukuba nempilo yocansi evamile, ukuthola umlingani oqondayo futhi owamukelayo isimo sakho, futhi ukungazali kungaba nomthelela omkhulu engqondweni kubantu abaningi.

Uma une-AIS, kungaba usizo ukukhuluma nomeluleki noma uchwepheshe wezokwelapha mayelana nokuhlangenwe nakho kwakho. Ungaxhumana nabanye abane-AIS emaqenjini okusekela.

Okokugcina, izinto okufanele uzikhumbule

I-Androgen Insensitivity Syndrome (AIS) yisimo lapho umuntu engumuntu wesilisa ngokwezakhi zofuzo kodwa engasabeli kuma-hormone wesilisa. Ngenxa yalokho, izitho zakhe zangasese zingase zibukeke njengezowesifazane, noma zingase zibe nezici zabesilisa nabesifazane. Lesi simo singadala izinselele ezahlukahlukene. Ngakho-ke, kubaluleke kakhulu ukuthi abantu abane-AIS bakhulume nodokotela babo njalo futhi bathole ukwesekwa okuqinile kwengqondo. Ngeseluleko esifanele sezokwelapha kanye nokusekelwa kwabathandekayo, laba bantu bangaphila impilo ephumelelayo.

I- Androgen insensitivity syndrome, i-AIS, intuthuko yocansi, ama-hormone, izifo zofuzo, ama-chromosome, ukungazali, izitho zangasese, ukuthomba, ukuhlolwa kofuzo