Ngaba kukho umahluko ekukhuleni komntwana wakho ngokwesondo? Masithethe nge-Androgen Insensitivity Syndrome!

Xa umntwana ongekazalwa ekhula esibelekweni, ngamanye amaxesha izinto ezincinci azihambi njengoko bekulindelwe. Abanye abantwana banokuba neengxaki ezincinci ngezitho zabo zangasese xa bezalwa. Okanye, imizimba yabo isenokungatshintshi njengoko bekulindelwe xa befikelela ekufikiseni. Ngamaxesha anjalo, singacinga ngemeko ebizwa ngokuba yi-`(Androgen Insensitivity Syndrome)`. Ungakhathazeki, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Yintoni i-Androgen Insensitivity Syndrome?

Ngamafutshane, i-Androgen Insensitivity Syndrome (AIS) yimeko apho umntwana eyindoda ngokwemfuza (oko kukuthi, une-chromosome ye-X kunye ne-chromosome ye-Y), kodwa umzimba wakhe awuphenduli ngokufanelekileyo kwiihomoni zesini zamadoda, ii-androgens . Cinga ngale ndlela: kukho iisango ezincinci emizimbeni yethu ezithumela imiyalezo kwiiseli, kwaye zisabela kwezi homoni. Kumntu one-AIS, ezi sango azisebenzi ngokufanelekileyo.

Oogqirha bathi oku kukuphazamiseka kokwahluka kwesini . Kwakubizwa ngokuba yi-testicular feminization syndrome, kodwa elo gama alisasetyenziswa. Le meko ichaphazela indlela amalungu esini omntwana akhula ngayo ngelixa esesesibelekweni. Ikwachaphazela nophuhliso lweempawu zesondo ekufuneka zenzeke ngexesha lokufikisa. Rhoqo, abantu abanale meko abakwazi ukuba nabantwana xa sele bekhulile (ukungazali) .

Ngaba kukho iintlobo ezahlukeneyo zezi?

Ewe, kukho iintlobo ezintathu eziphambili ze-'AIS'. Uhlobo ngalunye luneempawu ezahluke kancinci.

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

• Aba bantu bafana ngokupheleleyo namantombazana ngaphandle. Oko kukuthi, amalungu abo esini afana nawentombazana.
• Nangona kunjalo, azinazo izitho zangasese zangaphakathi zabasetyhini (oko kukuthi, ii-ovari, iityhubhu ze-fallopian, isibeleko).
• Ixesha elininzi, abantu abane-'CAIS' bakhuliswa bengamantombazana.

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

• Izitho zabo zangasese zangaphandle zisenokungakhuli ngokupheleleyo njengezomfana, okanye zinokubonakala ngathi zezentombazana, okanye zinokuba nomxube wazo zombini, nto leyo eyenza kube nzima ukuzibona ngokucacileyo njengendoda okanye ibhinqa (izitho zangasese ezingacacanga).
• Abantu abane-'PAIS' ngamanye amaxesha bakhuliswa njengabafana kwaye ngamanye amaxesha njengamantombazana.

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

• Izitho zabo zangasese zifana nezomntwana oyinkwenkwe.
• Nangona kunjalo, badla ngokungakwazi ukuba nabantwana (ukungazali). Abanye oogqirha bacinga ukuba i-'MAIS' yinxalenye ye-'PAIS' ngokwayo.

Ngubani onokufumana le meko? Ixhaphake kangakanani?

Le meko ye-'AIS' ibangelwa sisiphene kwi-'Androgen Receptor (AR) gene' , ekwi-'X' chromosome edluliselwa ukusuka kumama ukuya emntwaneni. Ekubeni le yi-'X-linked' gene, ukuba umama ungumthwali wale gene inesiphene, umntwana wakhe oyinkwenkwe unethuba eli-1 kwabane lokufumana le `AIS' imeko. Abantwana abangamabhinqa nabo banokuyifumana le gene inesiphene, baze nabo babe ngabathwali, kodwa abayi kuvelisa i-'AIS'.

I-AIS yimeko engaqhelekanga kakhulu . I-PAIS ichaphazela malunga nesinye kwiintsana ezingama-99,000 ezingamadoda. I-CAIS ichaphazela phakathi kweentsana ezimbini nezintlanu kwi-100,000.

Kutheni oku kusenzeka? Yintoni unobangela?

Njengoko besitshilo ngaphambili, isizathu esiphambili soku kukungaqheleki kwijini ye-'AR' kwi-chromosome ye-'X'. Xa le jini ingasebenzi kakuhle, umzimba awukwazi ukwenza ii-androgen receptors. Ezi androgen receptors, ngokufutshane, zizinto ezinceda iiseli zomzimba ukuba ziphendule kwiihomoni zamadoda ezibizwa ngokuba zii-androgens (umzekelo , i-testosterone) . Ngoko ke, xa ezi receptors zingekho, umzimba "awuziqapheli" iihomoni zamadoda, oko kuthetha ukuba nokuba ezo homoni zikhona, azenzi oko kufanele ukuba zikwenze.

Zithini iimpawu zoku?

Iimpawu ze-AIS ziyahluka ngokuxhomekeke kuhlobo. Nangona kunjalo, uphawu oluphambili oluqhelekileyo kuzo zonke iintlobo kukungakwazi ukuzala .

Abantu abane-'CAIS' abanakukhulelwa okanye bakhulelise amaqabane abo. Nangona amalungu abo esini afana nalawo omfazi, abanazo izitho zokuzala zangaphakathi zabasetyhini. Abantu abane-'PAIS' okanye 'MAIS' nabo akunakwenzeka ukuba babe nabantwana. Basenokuba nepenis encinci kakhulu, kwaye imveliso yesidoda isenokuba iphantsi kakhulu okanye ingabikho.

Ezinye iimpawu abantu abane-CAIS abanokuzibona ziquka:

• Ukuba mde ngokungaqhelekanga kunentombazana eqhelekileyo ngexesha lokufikisa.
• Ukungabikho kokuya exesheni (i-Amenorrhea) .
• Ngexesha lokufikisa , uboya buncinci kakhulu okanye abubikho kwaphela emakhwapheni nakwindawo yangasese.
• Ukuncitshiswa okanye ukunganzulu kwelungu lobufazi .
• Amasende ahlala kwisisu (akahlanga).

Ezinye iimpawu abantu abane-PAIS abanokuzibona ziquka:

• I-Bifid scrotum yimeko apho i-testicle yahlulwe kabini .
• Ukwanda kwe-clitoris (i-Clitoromegaly) .
• Ukwanda kwezicubu zebele kumakhwenkwe (iGynecomastia) .
• I-Hypospadias kuxa umngxuma we-urethra ufumaneka ngaphantsi kwepenis, kungekhona encamini .
• Ukuncamathela kweLebhu .
• Ipenis encinci ngokungaqhelekanga (Micropenis) .
• Amasende angaphakamanga ngokupheleleyo .

Ezinye iimpawu abantu abane-'MAIS' abanokuzibona:

• Ukwandiswa kwebele `(Gynecomastia)` .
• Ipenisi encinci (iMicropenis).
• Ukuba neenwele ezincinci emzimbeni .

Uyibona njani le nto?

Ugqirha angayibona i-PAIS xa ezalwa ngokujonga amalungu esini omntwana. Nangona kunjalo, ukuba umntwana une-CAIS okanye i-MAIS, isenokungabonwa de umntwana abe neminyaka eli-11 okanye eli-12 ubudala, xa umntwana efikisa . Kulapho ugqirha anokubona khona ukuba kukho ingxaki.

Umzekelo, umntwana one-CAIS usenokungabi sexesheni okanye angabi nazinwele zasesibelekweni. Umntwana one-MAIS unokuba nepenis encinci kakhulu okanye akhule amabele. Ngexesha lokufikisa, amasende angakhuliyo anokuhluma kwindawo ebuthathaka eludongeni lwesisu. Ngamanye amaxesha, oogqirha bafumanisa ukuba umntwana unesende ezingakhuliyo xa besenza utyando lwe -hernia ye-inguinal .

Luhlobo luni lovavanyo oluqhutywayo?

Ukuqinisekisa le meko ye-'AIS', ugqirha kuya kufuneka enze iimvavanyo ezininzi:

• Uvavanyo lwegazi: Olu vavanyo lujonga amanqanaba eehomoni , ii-chromosomes zesondo, kunye nokuphazamiseka kwemfuza .
• Uvavanyo lwemifanekiso: Uvavanyo olufana ne -ultrasound lunokuqinisekisa ukuba amalungu okuzala ebhinqa akhekile na.

Ukuba kukho umntu kusapho lwakho oye waba ne-AIS, kwaye uceba ukuba nabantwana, licebo elihle ukuba wenze uvavanyo lwemfuza . Olu vavanyo lunokukuxelela ukuba ungumthwali wale mfuza ingaqhelekanga na.

Zithini iindlela zonyango zoku?

Unyango lwe-AIS lumiselwa sisini esinikwe umntwana xa ezalwa. Uninzi lonyango luqala emva kokuba umntwana efikelele ekufikiseni. Oku kuvumela ixesha lokuba umzimba womntwana wenze utshintsho ekukhuleni kwaye kuvumela umntwana ukuba abandakanyeke ngakumbi kwizigqibo zakhe zonyango.

Nangona kunjalo, ezinye iingcali zempilo zikholelwa ukuba ezinye iindlela zonyango, ezinje ngokususwa kwamasende, kufuneka zenziwe ngaphambi kokuba umntu afikise ngenxa yomngcipheko wokufumana uhlobo lomhlaza olubizwa ngokuba yi-gonadoblastomas kumasende angaphantsi. Zikwathi ezinye iindlela zonyango zinokwenziwa emva kokuba umntu efikise.

Iindlela zonyango zabantwana abakhuliswe bengamakhwenkwe:

• Utyando lokulungisa amalungu esini samadoda. Umzekelo, `ukulungiswa kwe-hypospadias` (ukulungiswa ngokutsha kokuvulwa komchamo) okanye `i-orchiopexy` (ukulungiswa kwakhona kwamasende angaphakamanga kwi-scrotum).
• Utyando lokunciphisa amabele ukuze kususwe izicubu zebele ezigqithisileyo.
• Utyando lokulungisa i-Hernia luyinkqubo yokuvala izicubu ezivulekileyo okanye ezibuthathaka eludongeni lwesisu.
• Unyango lwehomoni yeTestosterone .

Iindlela zonyango ezikhoyo kubantwana abamkelwe njengamantombazana:

• Utyando lokususa amalungu esini sobudoda okanye izicubu ze-clitoral ezigqithisileyo.
• Iindlela zokwandisa isini ngaphandle kotyando ukuze kuqiniswe isini.
• Unyango lwe-estrogen hormone .

Ngaba oku kungathintelwa?

Akukho ndlela yokuthintela i-AIS. Nangona kunjalo, ukuba kukho umntu kusapho lwakho onayo le meko kwaye ukhathazekile ukuba umntwana wakho angayifumana le gene ingaqhelekanga, uvavanyo lwe-genetic lunokwenziwa ukuze kufunyaniswe ukuba ungumthwali wayo na.

Banjani abo baphila nale meko? (Umbono wexesha elizayo)

Abantu abane-AIS banokuphila ubomi obupheleleyo nobusempilweni . Abaninzi basabela kakuhle kunyango lwe-hormone kunye notyando. Nangona kunjalo, ngenxa yokuba i-AIS idla ngokubangela ukungazali, inokuba nzima ngokweemvakalelo kubantu abaninzi. Inokuba nefuthe elikhulu kwimpilo yengqondo yabantwana kunye nabantu abadala abancinci.

Ukuba awukwenzi i-gonadectomy , umngcipheko wakho wokuba nomhlaza wamasende uyanda malunga ne-30%.

Ukuba umntwana wam une-AIS, ndingamnceda njani?

"Ukunyamekela impilo yengqondo yomntwana yinxalenye enkulu yokulawula i-AIS."

Ukuba umntwana wakho une-AIS, kubalulekile ukuba nenkqubo eqinileyo yenkxaso yokuqonda oogqirha, abahlobo kunye nosapho. Ukujoyina amaqela enkxaso kunokunceda umntwana wakho abelane ngamava akhe kunye nemingeni yakhe nabanye abajongene nento efanayo.

Njengoko umntwana wakho engena ebusheni, aze aqale ukuqonda ukuba imizimba yakhe ayitshintshi njengoko kulindelekile, kubaluleke kakhulu ukuthetha naye nge-AIS .

Ujongana njani ne-AIS njengomntu omdala?

Ukuphila ne-AIS njengomntu omdala kunokuba nzima. Kunokuba nzima ukuba nobomi besondo obuqhelekileyo, ukufumana iqabane eliqondayo nelamkela imeko yakho, kwaye ukungazali kunokuba nefuthe elikhulu engqondweni kubantu abaninzi.

Ukuba une-AIS, kunokuba luncedo ukuthetha nomcebisi okanye ingcali yezonyango malunga namava akho. Ungaqhagamshelana nabanye abane-AIS kumaqela enkxaso.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Androgen Insensitivity Syndrome (AIS) yimeko apho umntu engumntu wesilisa ngokwemfuza kodwa engaphenduli kwiihomoni zamadoda. Ngenxa yoko, amalungu akhe esini anokubonakala ngathi ngawomfazi, okanye anokuba neempawu zamadoda nezabasetyhini. Le meko inokubangela imingeni eyahlukeneyo. Ke ngoko, kubaluleke kakhulu ukuba abantu abane-AIS bathethe noogqirha babo rhoqo baze bafumane inkxaso enamandla yengqondo. Ngeengcebiso zonyango ezifanelekileyo kunye nenkxaso yabantu abathandayo, aba bantu banokuphila ubomi obuphumelelayo.

Isifo sokungazivani kwe- Androgen , i-AIS, uphuhliso lwesondo, iihomoni, izifo zemfuza, ii-chromosomes, ukungazali, amalungu esini, ukufikisa, uvavanyo lwemfuza