Ese umwana wawe afite ikibazo mu mikurire y'imibonano mpuzabitsina? Menya ibijyanye na Swyer Syndrome (XY Gonadal Dysgenesis)

Wigeze wumva umuntu ufite chromosomes za XY avuka ari umukobwa? Bisa n'ibitangaje, si byo se? Ariko birashoboka koko. Iyi ndwara idakunze kugaragara yitwa Swyer Syndrome. Ushobora kuba ufite ibibazo byinshi mu mutwe wawe. Reka tubiganireho birambuye.

Swyer Syndrome ni iki?

Mu magambo make, Swyer Syndrome ni indwara aho chromosomes z'umuntu ziba XY, bivuze ko ari abagabo, ariko imyanya ndangagitsina ye yo hanze ikaba iy'abagore. Ubusanzwe, iyo hari chromosomes za XY, igitsina gabo n'amasaro birakura. Ariko, abantu barwaye Swyer Syndrome bakuramo imiyoboro y'abagore, nyababyeyi n'imiyoboro y'inda.

Aba bantu ntibagira imyakura y'imibonano mpuzabitsina, ni ukuvuga intanga ngabo cyangwa udusabo tw'intanga. Ahubwo, bafite agace k'inkovu idakora na gato. Abaganga babyita streak gonads. Kubera iyo mpamvu, ntibajya mu bwangavu keretse bahawe imiti yo gusimbuza imisemburo . Ntibanafite ubushobozi bwo gusama mu buryo busanzwe. Ariko, birashoboka kubyara umwana binyuze mu buryo nko gutanga amagi .

Irindi zina rya Swyer Syndrome ni XY gonadal dysgenesis. Aha, "gonadal" yerekeza kuri gonads, naho "dysgenesis" yerekeza ku "mikurire idasanzwe." Iyi ndwara iri mu cyiciro cya intersex. Abaganga bayita indwara yo gukura kw'imibonano mpuzabitsina, cyangwa indwara yo gukura kw'imibonano mpuzabitsina (DSD) .

Indwara ya Swyer ikunze kugaragara gute?

Iyi ni indwara idakunze kugaragara . Ifata hafi umwe mu bana 80.000 bavutse. Bityo rero ushobora kwiyumvisha ukuntu ijanisha riri hasi.

Ni ibihe bimenyetso by'umuntu urwaye Swyer Syndrome?

Iyi ndwara ikunze kugaragara mu gihe cy'ubwangavu , akenshi hafi y'igihe cy'ubugimbi. Ibimenyetso bishobora gutandukana bitewe n'umuntu ku wundi, ariko hari ibimenyetso bimwe na bimwe bikunze kugaragara:

• Kugabanuka cyangwa kutazamuka kw'amabere .
• Kutagira imihango ya buri kwezi (amenorrhea) .
• Gukura muremure kurusha abandi bari mu kigero kimwe.
• Nta musatsi umera cyangwa hari hake cyane nko mu kwaha no mu bice byihariye.

Tekereza, umukobwa wawe ubu afite imyaka 14 cyangwa 15. Inshuti ze zose zageze mu gihe cy'ubwangavu kandi zatangiye kujya mu mihango. Ariko umukobwa wawe ntabwo atandukaniye n'abandi. Ni muremure kurusha abandi bana, ariko amabere ye ntagaragaza ibimenyetso by'iterambere. Iki ni cyo gihe ababyeyi n'umwana bashobora kugira gushidikanya kuri ibi.

Ni iki gitera indwara ya Swyer?

Impamvu nyayo y’iyi ndwara ntabwo ihora izwi . Ariko, hashingiwe ku bushakashatsi buriho ubu, impuguke zizera ko iyi ndwara iterwa n’impinduka mu ngirabuzimafatizo zigira ingaruka ku gutandukanya igitsina. Muri make, impinduka iyo ari yo yose mu ngirabuzimafatizo iyo ari yo yose igira uruhare mu iterambere ry’intanga ngabo ishobora gutera Swyer Syndrome.

Hari abantu bakura iyi ndwara ku babyeyi babo . Birashoboka ko ababyeyi babo batari bazi ko hari impinduka muri imwe mu ngirabuzimafatizo zabo. Ku bandi, bishobora kubaho ku buryo butunguranye, bivuze ko impinduka nshya ya ngirabuzimafatizo ibaho nta mpamvu igaragara.

Swyer Syndrome iterwa n'impinduka mu ngirabuzimafatizo yitwa SRY (Akarere ka Y gapima igitsina), ifata abantu bari hagati ya 15% na 20%. Inzobere mu by'imiterere y'umubiri zizera ko ngirabuzimafatizo ya SRY ariyo ifasha ingingo zitarahinduka gukura zikavamo udusabo tw'intanga. Iyo ngirabuzimafatizo ya SRY ihindutse, iyi nzira ntibaho neza, kandi udusabo tw'intanga ntitwigera dukura.

Byongeye kandi, Swyer Syndrome ishobora guterwa n'impinduka mu ngirabuzimafatizo zikurikira:

• MAP3K1
• DHH
• NR5A1

Izi gene zishobora gusa n'izigoye, ariko izi ni zimwe mu ngirabuzimafatizo z'ingenzi zigira uruhare mu iterambere ry'imibonano mpuzabitsina.

Ni izihe ngorane zishobora guterwa na Swyer Syndrome?

Hari ingorane ebyiri z'ingenzi zishobora guterwa n'iyi ndwara:

• Ikibyimba cya Gonadal: Abantu bagera kuri 30% barwaye Swyer Syndrome barwara ikibyimba muri gonads, akenshi zikaba ari inkovu ziva aho intanga ngabo ziba ziherereye. Ubwoko bwa kanseri bukunze kugaragara cyane ni ubwoko bwa kanseri yitwa gonadoblastoma . Nubwo gonadoblastoma ari ikibyimba kitari kibi, abaganga bayifata nk'intandaro y'ibibyimba bibi. Kubwibyo, nk'ingamba zo kwirinda, abaganga bakunze gutanga inama yo kubaga gukuraho imirongo ya gonadal. Nubwo ibi biteye ubwoba gato, ni ngombwa gukumira ikibazo gikomeye mu gihe kizaza.

• Osteoporosis: Iyo itavuwe, Swyer Syndrome ishobora gutuma amagufwa yawe acika intege. Uko igihe kigenda gihita, ibi bishobora gutera osteoporosis.Uburyo bwo gusimbuza imisemburo bushobora gufasha mu gukumira kunanuka kw'amagufwa no kubura kw'amagufwa.

Indwara ya Swyer ipimwa ite?

Hari igihe abaganga bashobora kumenya iyo ndwara mbere yo kuvuka cyangwa igihe bavutse. Ariko abantu benshi ntibamenya ko bayirwaye kugeza nyuma, iyo bataragera mu bwana nk'uko byari byitezwe.

Iyo ugiye kwa muganga, abanza gukora isuzuma ry’umubiri akakubaza amateka y’ubuzima bwawe. Hanyuma, bashobora gutumiza ibizamini bitandukanye kugira ngo bamenye byinshi ku miterere y’imbere y’umubiri wawe n’imiterere ya chromosomes. Bimwe muri ibyo birimo:

• Gupima karyotype: Ibi bigufasha kubona imiterere nyayo ya chromosomes zawe.
• Gupima imiterere y'uturemangingo: Ibi bishobora kugaragaza niba hari impinduka mu miterere y'uturemangingo.
• Ultrasound y'ikibuno: Ibi bishobora kugenzura imiterere y'ingingo z'imbere nk'umura n'intanga ngore (cyangwa se streak gonads zibisimbuza).
• Isuzuma rya MRI (Magnetic Resonance Imaging): Ibi bishobora kandi gutanga ishusho isobanutse neza y'ingingo z'imbere.

Nubwo ibi bizamini bishobora kumvikana nk'ibitoroshye, ni byo bifasha mu gusuzuma indwara neza.

Indwara ya Swyer ivurwa ite?

Swyer Syndrome ntishobora gukira burundu. Kubwibyo, intego nyamukuru zo kuvura ni ukurwanya ibimenyetso bidakenewe, gukomeza amagufwa yawe no kugabanya ibyago byo kurwara kanseri. Kugira ngo ibyo bigerweho, muganga wawe ashobora kukugira inama ibi bikurikira:

• Kubagwa kugira ngo hakurweho imirongo y'uturemangingo: Nkuko nabivuze mbere, ibi ni ingenzi kugira ngo bigabanye ibyago byo kurwara ibibyimba.
• Uburyo bwo gusimbuza imisemburo: Ibi bishobora gufasha gusubiza imihango, gufasha mu mikurire y'amabere, no gukumira osteoporosis. Ubusanzwe bikubiyemo gutanga imisemburo y'abagore.

Nakora iki niba umwana wanjye afite Swyer Syndrome?

Ubugimbi si igihe cyoroshye kuri buri wese. Ku mwana urwaye Swyer Syndrome, muri iki gihe ni bwo atangira kubona ko umubiri we utandukanye n'uwa bagenzi be. Ibi bishobora kugira ingaruka zikomeye ku buzima bwo mu mutwe bw'umwana.

Umwana wawe ashobora kuba afite amarangamutima menshi kuri ibi. Muganire nawe nta guhishanya . Byaba byiza usabye ubufasha bw'umujyanama kugira ngo amufashe guhangana n'ayo marangamutima akomeye. Wibuke ko urukundo rwawe, inkunga yawe, no kumva umwana wawe ari ingenzi cyane muri iki gihe.

Icy'ingenzi:Mu gihe usobanurira umwana wawe iyi ndwara, shimangira ko atari "abafite ubumuga" na gato. Iri si ikosa rye, ahubwo ni itandukaniro ry'uburyo umubiri we wakuze.

Imyaka yo kubaho k'umuntu urwaye Swyer Syndrome ni iyihe?

Ushobora kumva uhumurijwe no kumva ibi. Imyaka yo kubaho y'abantu barwaye Swyer Syndrome ni nk'iy'abantu badafite iyo ndwara . Iyo ivuwe neza, ntacyo izahindura ku mibereho yawe cyangwa y'umwana wawe mu buryo ubwo aribwo bwose.

Ese indwara ya Swyer ishobora kwirindwa?

Swyer Syndrome ni indwara iterwa n'uturemangingo . Ntacyo wakora kugira ngo uyirinde. Si ikosa ry'umuntu uwo ari we wese.

Ni ryari ngomba kujya kwa muganga?

• Niba uri umugore kandi utaratangira imihango yawe ku myaka 16 , nta kabuza ugomba kujya kwa muganga.
• Niba uri umubyeyi kandi ukaba ubona ko umwana wawe atinze mu bwangavu , vugana na muganga w'abana w'umwana wawe. Bashobora gukurikirana imikurire y'umwana wawe bakakubwira niba akeneye kuvurwa.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Niba usanzwe urwaye Swyer Syndrome, ushobora kubaza muganga wawe ibibazo nk'ibi:

• Ese wambwira icyo ihinduka ry’uturemangingo ryateye iyi ndwara?
• Ni ryari njye cyangwa umwana wanjye twatangira gukoresha imiti isimbura imisemburo?
• Ese njye cyangwa umwana wanjye tuzakenera kubagwa? Niba ari byo, ni ryari?
• Ese abandi bo mu muryango wanjye bagomba gupimwa imiterere y’uturemangingo?
• Ni izihe mfashanyigisho zindi wasaba? (urugero: serivisi z'ubujyanama, amatsinda y'ubufasha)

Ni ibisanzwe kumva utazi neza kandi utazi neza iyo umenye ko umwana wawe afite indwara y’imikurire y’imibonano mpuzabitsina (DSD). Ushobora gusanga umwana wawe afite Swyer Syndrome, indwara iterwa n’ibitsina bibiri, mu gihe cy’ubwangavu, cyane cyane iyo bagenzi be batagaragaza iyo mico uko agenda akura.

Amaherezo, ubutumwa bwo kujyana mu rugo

Igice cyiza ni uko Swyer Syndrome ishobora gukemurwa hakoreshejwe uburyo bwo kuvura . Muganga wawe ashobora gukora gahunda yihariye yo kuvura wowe cyangwa umwana wawe. Bashobora kandi kukwereka ibikoresho bishobora gufasha umwana wawe kubaho neza muri iki kibazo.

Witinya. Ntabwo uri wenyine.Hari abantu benshi babana n'iyi ndwara. Iyo umuntu ahawe inama z'abaganga, ubufasha, no gusobanukirwa neza, ndetse n'umuntu urwaye Swyer Syndrome ashobora kubaho ubuzima bwiza kandi bushimishije. Icy'ingenzi ni ugushaka inama z'abaganga vuba kandi ugakurikiza ubuvuzi bwatanzwe.

` Swyer Syndrome, XY Gonadal Dysgenesis, iterambere ry'imibonano mpuzabitsina, imisemburo, impinduka mu ngirabuzimafatizo, ubwangavu, hagati y'ibitsina byombi, DSD