Ingabe ingane yakho inenkinga yokukhula kocansi? Funda nge-Swyer Syndrome (XY Gonadal Dysgenesis)

Wake wezwa ngomuntu onama-chromosome e-XY ozalwa eyintombazane? Kuzwakala kungavamile, akunjalo? Kodwa kungenzeka ngempela. Lesi simo esingavamile sibizwa ngokuthi i-Swyer Syndrome. Cishe unemibuzo eminingi engqondweni yakho. Ake sixoxe ngakho konke ngokuningiliziwe.

Iyini i-Swyer Syndrome?

Kalula nje, i-Swyer Syndrome yisimo lapho ama-chromosome omuntu eyi-XY, okusho ukuthi angabesilisa, kodwa izitho zawo zangasese zangaphandle zingabesifazane. Ngokuvamile, uma kukhona ama-chromosome e-XY, kuvela ipenisi kanye ne-scrotum. Kodwa-ke, abantu abane-Swyer Syndrome bakha isitho sangasese sowesifazane, isibeletho kanye namashubhu esitho sangasese sowesifazane.

Laba bantu abanazo izindlala zocansi, okungukuthi, ama-ovari noma amasende. Kunalokho, banezicucu zesilonda ezingasebenzi nhlobo. Odokotela babiza lokhu ngokuthi ama-gonad e-streak. Ngenxa yalokhu, abadluli esikhathini sokuthomba ngaphandle kokuthi bathole ukwelashwa kokushintsha ama-hormone . Abanalo nekhono lokukhulelwa ngokwemvelo. Kodwa-ke, kungenzeka ukuba nomntwana ngezindlela ezifana nokunikela ngeqanda .

Elinye igama le-Swyer Syndrome yi-XY gonadal dysgenesis. Lapha, igama elithi "gonadal" libhekisela kuma-gonad, kanti elithi "dysgenesis" libhekisela "ekukhuleni okungajwayelekile." Lesi simo siwela esigabeni se-intersex. Odokotela basibiza ngokuthi ukuphazamiseka kokukhula kocansi, noma ukuphazamiseka kokukhula kocansi (DSD) .

Ivame kangakanani i-Swyer Syndrome?

Lesi yisimo esingavamile kakhulu . Sithinta cishe ingane eyodwa kwezingu-80,000 ezizalwayo. Ngakho ungacabanga ukuthi iphesenti liphansi kangakanani.

Yiziphi izimpawu zomuntu one-Swyer Syndrome?

Lesi simo sivame ukutholakala ngesikhathi sobusha , ngokuvamile cishe ngesikhathi sokuthomba. Izimpawu zingahluka kumuntu nomuntu, kodwa kunezimpawu ezithile ezivamile:

• Ukukhula kwebele okunciphile noma okungekho nhlobo .
• Ukungabikho kokuya esikhathini kwanyanga zonke (i-amenorrhea) .
• Ukukhula ube mude kunabanye abangontanga efanayo.
• Akukho noma kuncane kakhulu ukukhula kwezinwele ezindaweni ezifana namakhwapha nezindawo zangasese.

Cabanga nje, indodakazi yakho isineminyaka engu-14 noma engu-15 ubudala. Bonke abangane bayo sebefinyelele ebusheni futhi baqale ukuya esikhathini. Kodwa indodakazi yakho ayikahlukile. Inde kunezinye izingane, kodwa amabele ayo awabonisi zimpawu zokukhula. Yilapho abazali kanye nengane bangase bangabaze ngalokhu.

Yini ebangela i-Swyer Syndrome?

Imbangela eqondile yalesi simo ayaziwa ngaso sonke isikhathi . Kodwa-ke, ngokusekelwe ocwaningweni lwamanje, ochwepheshe bakholelwa ukuthi lesi simo sibangelwa izinguquko ezakhiweni zofuzo ezithinta ukuhlukaniswa kobulili. Kalula nje, noma yiluphi ushintsho kunoma yiluphi uhlobo lofuzo olufaka isandla ekuthuthukisweni kwamasende lungabangela i-Swyer Syndrome.

Abanye abantu bathola lesi simo njengefa kubazali babo . Mhlawumbe abazali babo babengazi nokuthi babenezinguquko kwenye yezakhi zofuzo zabo. Kwabanye, kungenzeka ngokungahleliwe, okusho ukuthi izinguquko ezintsha zezakhi zofuzo zenzeka ngaphandle kwesizathu esicacile.

I-Swyer Syndrome ibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-SRY (Sex-determining Region Y), okuthinta abantu abangu-15% kuya ku-20%. Izazi zofuzo zikholelwa ukuthi izakhi zofuzo ze-SRY zinomthwalo wokusiza izicubu ezingahlukanisiwe ukuba zikhule zibe amasende. Uma izakhi zofuzo ze-SRY zishintshwa, le nqubo ayenzeki kahle, futhi amasende awakaze akhule.

Ngaphezu kwalokho, i-Swyer Syndrome ingabangelwa futhi izinguquko ezizakhini zofuzo ezilandelayo:

• I-MAP3K1
• I-DHH
• I-NR5A1

Lezi zakhi zofuzo zingase zibonakale ziyinkimbinkimbi kancane, kodwa lezi ezinye zezakhi zofuzo eziyinhloko ezihilelekile ekukhuleni kocansi.

Yiziphi izinkinga ezingaba khona ze-Swyer Syndrome?

Kunezinkinga ezimbili ezinkulu ezingavela kulesi simo:

• Isimila se-gonadal: Cishe abantu abangu-30% abane-Swyer Syndrome bakha isimila kuma-gonad, okuvame ukuba yizicubu zesilonda ezakha lapho kutholakala khona ama-ovari. Uhlobo oluvame kakhulu lwesimila uhlobo lwesimila olubizwa ngokuthi i-gonadoblastoma . Nakuba i-gonadoblastoma iyisimila esingenabungozi, odokotela bayibheka njengesandulela sezimila ezinobungozi. Ngakho-ke, njengesinyathelo sokuvimbela, odokotela bavame ukuncoma ukususwa ngokuhlinzwa kwemigqa ye-gonadal. Nakuba lokhu kuyesabeka kancane, kubalulekile ukuvimbela inkinga enkulu esikhathini esizayo.

• I-Osteoporosis: Uma ingelashwa, i-Swyer Syndrome ingabangela ukuba amathambo akho abe buthakathaka. Ngokuhamba kwesikhathi, lokhu kungaholela ekuwohlokeni kwamathambo.Ukwelashwa kokushintsha ama-hormone kungasiza ekuvimbeleni ukuncipha kwamathambo nokulahlekelwa yithambo.

I-Swyer Syndrome ihlolwa kanjani?

Ngezinye izikhathi, odokotela bangathola lesi simo ngaphambi noma ngesikhathi sokuzalwa. Kodwa abantu abaningi abatholi ukuthi banaso kuze kube kamuva, lapho bengakafiki esikhathini sokuthomba njengoba bekulindelekile.

Uma uya kudokotela, uzoqala ngokukuhlola umzimba bese ebuza ngomlando wakho wezokwelapha. Ngemuva kwalokho, bangase ba-ode izivivinyo ezahlukahlukene ukuze bafunde kabanzi ngesakhiwo sangaphakathi somzimba wakho kanye nokwakheka kwama-chromosome. Ezinye zalezi zifaka:

• Ukuhlolwa kwe-Karyotype: Lokhu kukuvumela ukuthi ubone iphethini eqondile yama-chromosome akho.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kungabona ukuthi kukhona yini izinguquko ezakhiweni zofuzo.
• I-ultrasound yesinqe: Lokhu kungahlola isimo sezitho zangaphakathi njengesibeletho nama-ovari (noma ama-gonad alandelanayo athatha indawo yawo).
• Ukuskena kwe-MRI (Magnetic Resonance Imaging): Lokhu kunganikeza nesithombe esicacile sezitho zangaphakathi.

Nakuba lezi zivivinyo zingase zizwakale ziyinkimbinkimbi kancane, yizo ezisiza ekutholeni ukuxilongwa okufanele.

Iphathwa kanjani i-Swyer Syndrome?

I-Swyer Syndrome ayinakwelapheka ngokuphelele. Ngakho-ke, imigomo eyinhloko yokwelashwa ukuphatha izimpawu ezingafuneki, ukugcina amathambo akho eqinile, nokunciphisa ingozi yakho yomdlavuza. Ukuze kufezwe lokhu, udokotela wakho angase ancome okulandelayo:

• Ukuhlinzwa ukuze kususwe imivimbo ye-gonadal: Njengoba ngishilo ngaphambili, lokhu kubalulekile ukunciphisa ingozi yezimila.
• Ukwelashwa kokushintsha ama-hormone: Lokhu kungasiza ekubuyiseleni ukuya esikhathini, kusize ekukhuleni kwamabele, futhi kuvimbele i-osteoporosis. Ngokuvamile kuhilela ukunikeza ama-hormone abesifazane.

Ngenzenjani uma ingane yami ine-Swyer Syndrome?

Isikhathi sokuthomba asilula kunoma ubani. Kumntwana one-Swyer Syndrome, kungalesi sikhathi lapho eqala khona ukuqaphela ukuthi umzimba wakhe uhlukile kontanga yakhe. Lokhu kungaba nomthelela omkhulu empilweni yengqondo yengane.

Ingane yakho ingase ibe nemizwa eminingi ngalokhu. Khuluma nayo ngokukhululekile . Kungaba umqondo omuhle ukufuna usizo lomeluleki ukuze ayisize ibhekane nale mizwa eyinkimbinkimbi. Khumbula, uthando lwakho, ukwesekwa kwakho, nokuqonda kwakho kubaluleke kakhulu enganeni yakho ngalesi sikhathi.

Okubalulekile:Uma uchazela ingane yakho ngalesi simo, gcizelela ukuthi ayikhubazekile nhlobo. Lokhu akulona iphutha layo, kumane nje kuhlukile endleleni umzimba wayo okhule ngayo.

Ingakanani iminyaka yokuphila komuntu one-Swyer Syndrome?

Ungase uzizwe ukhululekile ukuzwa lokhu. Isikhathi sokuphila sabantu abane-Swyer Syndrome siyafana nesabantu abangenaso lesi simo . Uma selashwa kahle, ngeke sithinte isikhathi sokuphila sakho noma sengane yakho nganoma iyiphi indlela.

Ingabe i-Swyer Syndrome ingavinjelwa?

I-Swyer Syndrome iyisimo esibangelwa ufuzo . Ngakho-ke akukho ongakwenza ukuyivimbela. Akulona iphutha lanoma ubani.

Kufanele ngimbone nini udokotela?

• Uma ungowesifazane futhi ungakaqali ukuya esikhathini sakho uneminyaka engu-16 , kufanele nakanjani ubone udokotela.
• Uma ungumzali futhi ucabanga ukuthi ingane yakho ibambezeleka ekuthombeni , khuluma nodokotela wezingane wengane yakho. Bangaqapha intuthuko yengane yakho futhi bakutshele ukuthi kuyadingeka yini ukwelashwa.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma kutholakale ukuthi une-Swyer Syndrome, ungase ufune ukubuza udokotela wakho imibuzo efana nale:

• Ungangitshela ukuthi yikuphi ukuguqulwa kwezakhi zofuzo okubangele lesi simo?
• Kufanele ngiqale nini mina noma ingane yami ukwelashwa kokushintsha ama-hormone?
• Ingabe mina noma ingane yami sizodinga ukuhlinzwa? Uma kunjalo, nini?
• Ingabe umndeni wami wonke kufanele uhlolwe izakhi zofuzo?
• Yiziphi ezinye izinsiza ongancoma? (isib., izinsizakalo zokweluleka, amaqembu okusekela)

Kuvamile ukuzizwa udidekile futhi ungaqiniseki lapho uthola ukuthi ingane yakho ine-Disorder of Sexual Development (DSD). Ungase uthole ukuthi ingane yakho ine-Swyer Syndrome, isimo sobulili obuhlukile, ngesikhathi sokukhula, ikakhulukazi uma ontanga bayo bengabonisi lezi zici njengoba ikhula.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Ingxenye engcono kakhulu ukuthi i-Swyer Syndrome ingaphathwa ngokwelashwa . Udokotela wakho angakha uhlelo lokwelashwa oluqondene nawe noma ingane yakho. Bangakukhombisa nezinsiza ezingasiza ingane yakho ukuthi iphile ngempumelelo nalesi simo.

Ungesabi. Awuwedwa.Baningi abantu abaphila nalesi simo. Ngeseluleko sezokwelapha esifanele, ukwesekwa, nokuqonda, ngisho nomuntu one- Swyer Syndrome angaphila impilo enempilo nejabulisayo. Isihluthulelo ukufuna iseluleko sezokwelapha ngokushesha bese ulandela ukwelashwa okunconywayo.

I- Swyer Syndrome, i-XY Gonadal Dysgenesis, intuthuko yocansi, ama-hormone, izinguquko zofuzo, ukuthomba, ubulili obuhlukile, i-DSD