Yu pikin gɛt prɔblɛm wit mami ɛn dadi biznɛs? Lan bɔt di sik we dɛn kɔl Swyer Syndrome (XY Gonadal Dysgenesis) .

yu don eva yehri boht posin we geht XY kromozom we dem bohn gyal pikin? I tan lɛk se i strenj, nɔto so? Bɔt i rili pɔsibul. Dɛn kɔl dis sik we nɔ kin apin so ɔltɛm, Swyer Syndrome. I go mɔs bi se yu gɛt bɔku kwɛstyɔn dɛn na yu maynd. Lɛ wi tɔk bɔt ɔltin ditayli.

Wetin na di sik we dɛn kɔl Swyer Syndrome?

Fɔ tɔk am simpul wan, Swyer Syndrome na wan sik we pɔsin in kromozom na XY, we min se na man, bɔt in ɛksternal jɛnɛral na uman. nכmal wan, we di XY kromozom dεm de, wan penis εn skrotum de divεlכp. Bɔt pipul dɛn we gɛt Swyer Syndrome kin gɛt vagina, uterus, ɛn fallopian tubes.

Dɛn pipul ya nɔ gɛt sɛks gland, dat na, ovaria ɔ tɛstikul. Bifo dat, dɛn gɛt wan pat pan skata we nɔ de wok atɔl. Dɔktɔ dɛn kin kɔl dis streak gonads. Bikɔs ɔf dis, dɛn nɔ kin go tru di tɛm we dɛn de bɔn pas dɛn gi dɛn ɔmon riplesmɛnt tritmɛnt . Dɛn nɔ gɛt di pawa bak fɔ gɛt bɛlɛ bay dɛnsɛf. Bɔt i pɔsibul fɔ bɔn pikin tru we dɛn lɛk fɔ gi eg .

כda nem fכ Swyer Syndrome na XY gonadal dysgenesis. na ya, "gonadal" de tכk bכt di gonad dεm, εn "dysgenesis" de tכk bכt "abnכmal divεlכpmεnt." Dis kɔndishɔn de insay di kategori fɔ intasɛks. Dɔktɔ dɛn kɔl am dizayd we pɔsin kin gɛt we i de du mami ɛn dadi biznɛs, ɔ wan sik we de mek i nɔ ebul fɔ du mami ɛn dadi biznɛs (DSD) .

Aw kɔmɔn tin na Swyer Syndrome?

Dis na tin we nɔ kin apin so ɔltɛm . I kin afɛkt lɛk wan pan ɛvri 80,000 pikin dɛn we dɛn bɔn. So yu kin imajin aw di pasɛnt smɔl.

Wetin na de sayn dɛm fɔ pɔrsin wae gɛt Swyer Syndrome?

Bɔrku tɛm dɛn kin no dis sik wae dɛn de yɔŋ , bɔrku tɛm arawnd di tɛm wae pɔrsin de na di yɔŋ wan. Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, bɔt sɔm sayn dɛm de wae kin kam:

• di bכdi de dכn כ nכ de divεlכp .
• Di we aw pɔsin nɔ kin gɛt mɔnt ɛvri mɔnt (amenorrhea) .
• Fɔ gro lɔng pas ɔda pipul dɛn we gɛt di sem ej.
• Nɔ ɔ smɔl ia nɔ de gro na ples dɛn lɛk armpit ɛn prayvet eria.

Imajin, yu gyal pikin dɔn ol 14 ɔ 15 ia naw. Ɔl in padi dɛn dɔn rich di tɛm we dɛn de bɔn pikin ɛn dɛn dɔn bigin fɔ gɛt mɔnt. Bɔt yu gyal pikin stil nɔ difrɛn. I lɔng pas ɔda pikin dɛn, bɔt in bɔdi nɔ de sho ɛni sayn fɔ se i de gro. Dis na we di mama ɛn papa ɛn di pikin ɔl tu kin gɛt dawt bɔt dis.

Wetin kin mek pɔsin gɛt Swyer Syndrome?

Nɔto ɔltɛm dɛn kin no di rayt tin we kin mek pɔsin gɛt dis sik . Bɔt bay di risach we dɛn dɔn du naw, masta sabi pipul dɛn biliv se di sik kin kam bikɔs ɔf di chenj dɛn we de apin na di jin dɛn we kin afɛkt di difrɛns bitwin man ɛn uman. Fɔ tɔk am simpul wan, ɛni chenj na ɛni jin we de ɛp fɔ mek di tɛstikul dɛn divɛlɔp kin mek pɔsin gɛt Swyer Syndrome.

Sɔm pipul dɛn kin gɛt dis sik frɔm dɛn mama ɛn papa . Sɔntɛm dɛn mama ɛn papa nɔ bin ivin no se dɛn gɛt chenj na wan pan dɛn jin. Fɔ ɔda pipul dɛn, i kin apin randomly, we min se nyu jin muteshɔn kin apin fɔ no rizin.

Swyer Syndrome de kכz bay wan mכtεshכn na wan jin we dεn kכl SRY (Sex-determining Region Y), we de afekt 15% to 20% pan pipul dεm. di jεnεtiks dεm biliv se di SRY jin na in de εp di tisu dεm we nכ difrεnt fכ divεlכp to tεstikul dεm. if dεn chenj di SRY jin, dis prכsεs nכ de apin fayn, εn di tεstikul dεm nכ de nεva divεlכp.

apat frכm dat, Swyer Syndrome kin kכz bak bay di chenj dεm na dεn jin dεm ya:

• MAP3K1
• DHH we dɛn kɔl DHH
• NR5A1

I kin tan lɛk se dɛn jin ya kɔmplikt smɔl, bɔt dɛn jin ya na sɔm pan di men jin dɛn we kin mek pɔsin du mami ɛn dadi biznɛs.

Wetin na de prɔblɛm wae kin kam wit Swyer Syndrome?

Tu men prɔblɛm dɛn de we kin kam wit dis sik:

• Gonadal tumor: Na lɛk 30% pan di pipul dɛn we gɛt Swyer Syndrome kin gɛt tumor na di gonads, we kin bi ska tisu we kin mek usay di ovaria dɛn de. di kayn tכmכro we kכmכn pas כl na wan tכmכro we dεn kכ l gonadoblastoma . Pan ɔl we gonadoblastoma na fayn tumbu, dɔktɔ dɛn kin tek am se na tin we kin mek pɔsin gɛt bad bad tumbu. So, as fɔ mek dɛn nɔ gɛt dis sik, dɔktɔ dɛn kin se dɛn fɔ du ɔpreshɔn fɔ pul di gonadal streaks. Pan ɔl we dis kin mek pɔsin fred smɔl, i impɔtant fɔ mek wi nɔ gɛt big prɔblɛm tumara bambay.

• Ɔstioporosis: If dɛn nɔ trit yu, Swyer Syndrome kin mek yu bon dɛn wik. As tɛm de go, dis kin mek pɔsin gɛt ɔstioporosis.Ɔmon riplesmɛnt tritmɛnt kin ɛp fɔ mek di bon dɛn nɔ tan ɛn mek di bon dɛn nɔ lɔs.

Aw dɛn kin no se pɔsin gɛt Swyer Syndrome?

Sɔntɛnde, dɔktɔ dɛn kin no di sik bifo dɛn bɔn am ɔ we dɛn bɔn am. Bɔt bɔrku pipul nɔr kin no se dɛn gɛt am te leta, wae dɛn nɔr dɔn rich puberty lɛk aw dɛn bin de ɛkspɛkt.

We yu go to dɔktɔ, i go fɔs du yu bɔdi ɛgzam ɛn aks bɔt yu mɛdikal istri. Dɔn, dɛn kin ɔda difrɛn tɛst dɛn fɔ no mɔ bɔt aw yu bɔdi de insay di bɔdi ɛn aw di kromozom dɛn mek. Sɔm pan dɛn tin ya na:

• Karyotype testing: Dis de mek yu si di rayt patɛn we yu kromozom dɛn de du.
• jεnεtik tεst: Dis kin no if εni mכtεshכn de na di jin dεm.
• di pεlvik כltra saund: dis kin chεk di kכndishכn fכ di insay כgan dεm lεk di uterus εn ovaria (כ strik gonad dεm we de tek in ples).
• MRI (Magnetic Resonance Imaging) scan: Dis kin mek bak yu si klia wan bɔt di ɔgan dɛn we de insay.

Pan ɔl we dɛn tɛst ya kin tan lɛk se dɛn kɔmplikt smɔl, na dɛn kin ɛp fɔ mek dɛn no di kɔrɛkt tin bɔt di sik.

Aw dɛn kin trit Swyer Syndrome?

Dɛn nɔ kin ebul fɔ mɛn Swyer Syndrome ɔltogɛda. So, di men gol dɛm fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm wae yu nɔr want, fɔ kip yu bon dɛm strɔng, ɛn fɔ ridyus yu risk fɔ gɛt kansa. Fɔ du dis, yu dɔktɔ kin tɛl yu fɔ du dɛn tin ya:

• Ɔpreshɔn fɔ pul di gonadal streaks: As a bin dɔn tɔk bifo tɛm, dis impɔtant fɔ ridyus di risk fɔ gɛt tumor.
• Ɔmon riplesmɛnt tɛrapi: Dis kin ɛp fɔ mek yu gɛt mɔnt bak, ɛp fɔ mek di bɔdi gro, ɛn fɔ mek yu nɔ gɛt ɔstioporosis. Bɔku tɛm, i kin min fɔ gi uman ɔmon.

Wetin a fɔ du if mi pikin gɛt Swyer Syndrome?

Puberty nɔto izi tɛm fɔ ɛnibɔdi. Fɔ pikin we gɛt Swyer Syndrome, na dis tɛm ya dɛn kin bigin fɔ no se dɛn bɔdi difrɛn frɔm dɛn kɔmpin dɛn. Dis kin rili afɛkt di pikin in maynd wɛlbɔdi.

Yu pikin kin de fil bɔku bɔt dis. Tɔk to dɛn opin wan . I go fayn fɔ mek yu go to pɔsin we de gi advays fɔ ɛp dɛn fɔ dil wit dɛn kɔmpleks filin ya. Mɛmba se di lɔv, sɔpɔt, ɛn ɔndastandin we yu gɛt rili impɔtant to yu pikin dis tɛm.

Impɔtant:We yu de ɛksplen dis kɔndishɔn to yu pikin, ɛksplen se dɛn nɔ "disabled" atɔl. Dis nɔto dɛn fɔlt, na jɔs difrɛns pan di we aw dɛn bɔdi dɔn divɛlɔp.

Wetin na di layf we pɔsin we gɛt Swyer Syndrome kin liv?

Yu go fil fri we yu yɛri dis. De layf wae pipul dɛm wae gɛt Swyer Syndrome kin liv na di sem wit wae pɔrsin wae nɔr gɛt dis sik kin liv . If dɛn trit yu fayn, i nɔ go afɛkt yu ɔ yu pikin in layf ɛni we.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Swyer Syndrome?

Swyer Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . So natin nɔ de we yu go du fɔ mek i nɔ apin. Nɔto ɛnibɔdi in fɔlt.

Ustɛm a fɔ go to dɔktɔ?

• If yu na uman ɛn yu nɔ bigin yu prɛgnɛshɔn we yu ol 16 ia , yu fɔ rili go to dɔktɔ.
• If yu na mama ɔ papa ɛn yu tink se yu pikin de delay fɔ bɔn , tɔk to yu pikin in dɔktɔ we de mɛn pikin dɛn. Dɛn kin wach aw yu pikin de gro ɛn tɛl yu if dɛn nid tritmɛnt.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If dɛn no se yu gɛt Swyer Syndrome, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk:

• Yu kin tɛl mi us jin muteshɔn mek dis sik?
• Ustɛm mi ɔ mi pikin fɔ bigin fɔ tek ɔmon riplesmɛnt tritmɛnt?
• Mi ɔ mi pikin go nid ɔpreshɔn? If na so i bi, ustɛm?
• Yu tink se dɛn fɔ du di ɔda pipul dɛn na mi famili fɔ tɛst dɛn jɛnɛtiks?
• Us ɔda tin dɛn we yu go tɔk bɔt? (e.g., advays savis, sɔpɔt grup)

Na nɔmal tin fɔ fil kɔnfyus ɛn nɔ shɔ we yu kam fɔ no se yu pikin gɛt wan sik we dɛn kɔl Disorder of Sexual Development (DSD). Yu kin no se yu pikin gɛt Swyer Syndrome, we na wan sik we de bitwin man ɛn uman, we i de yɔŋ, mɔ if dɛn kɔmpin dɛn nɔ de sho dɛn kayn kwaliti ya as i de ol.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

De bεst pat na dat dεn kin mεnεj Swyer Syndrome wit tritmεnt . Yu dɔktɔ kin mek wan tritmɛnt plan fɔ yu ɔ yu pikin fɔ yusɛf. Dɛn kin pɔynt yu bak to tin dɛm wae kin ɛp yu pikin fɔ liv fayn fayn wan wit de sik.

Nɔ fred. Nɔto yu wan de.Bɔrku pipul de liv wit dis sik. If yu gɛt di rayt advays, sɔpɔt, ɛn ɔndastandin, ivin pɔrsin wae gɛt Swyer Syndrome kin liv wɛl, gladi layf. Di men tin na fɔ go to dɔktɔ kwik kwik wan ɛn fala di tritmɛnt we dɛn se yu fɔ gi yu.

` Swyer Syndrome, XY Gonadal Dysgenesis, seksual divεlכpmεnt, כmon, jεnεtik mכtεshכn, puberty, intasεks, DSD