So wo ba no rehyia ɔhaw wɔ nna mu nkɔso ho? Sua Swyer Syndrome (XY Gonadal Dysgenesis) ho ade .

So woate sɛ wɔwoo obi a ɔwɔ XY chromosomes sɛ abeawa pɛn? Ɛte sɛ nea ɛyɛ nwonwa, ɛnte saa? Nanso ebetumi aba ankasa. Wɔfrɛ saa tebea a ɛntaa nsi yi Swyer Syndrome. Ebia nsɛmmisa pii wɔ w’adwene mu. Momma yɛnka ne nyinaa ho asɛm nkɔ akyiri.

Dɛn ne Swyer Syndrome?

Sɛ yɛbɛka no tiawa a, Swyer Syndrome yɛ tebea a obi chromosomes yɛ XY, a ɛkyerɛ sɛ ɔyɛ ɔbarima, nanso n’akyi akwaa yɛ ɔbea. Mpɛn pii no, sɛ XY chromosomes wɔ hɔ a, ɔbarima akyi berɛmo ne awotwaa bi nyin. Nanso, nnipa a wɔwɔ Swyer Syndrome no nya awotwaa, awotwaa, ne awotwaa mu ntini.

Saa nkurɔfo yi nni nna mu ntini, kyerɛ sɛ, mmadwoa anaa mmadwoa. Mmom no, wɔwɔ akuru ntini bi a ɛnyɛ adwuma koraa. Nnuruyɛfo frɛ eyi streak gonads. Esiane eyi nti, wɔnkɔ mmerantebere ne mmabaabere mu gye sɛ wɔma wɔn aduru a wɔde si hormone ananmu . Wɔn nso nni tumi a wɔde benyinsɛn wɔ awosu mu. Nanso, wobetumi afa akwan te sɛ nkesua a wɔde ma so awo abofra .

Edin foforo a wɔde frɛ Swyer Syndrome ne XY gonadal dysgenesis. Ɛha yi, "gonadal" kyerɛ gonads, na "dysgenesis" kyerɛ "nkɔso a ɛnteɛ." Saa tebea yi hyɛ ɔbarima ne ɔbea nna mu. Nnuruyɛfo frɛ no nna mu nkɔso ho haw, anaasɛ nna mu nkɔso mu ɔhaw (DSD) .

Swyer Syndrome abu so dɛn?

Eyi yɛ tebea a ɛntaa nsi koraa . Ɛka nkokoaa bɛyɛ 80,000 biara mu biako. Enti wubetumi asusuw sɛnea ɔha biara mu nkyem no sua no ho.

Dɛn ne obi a ɔwɔ Swyer Syndrome ho sɛnkyerɛnne?

Wɔtaa hu saa tebea yi wɔ mmerantebere ne mmabaabere mu , mpɛn pii no bɛyɛ mmerantebere ne mmabaabere mu. Nsɛnkyerɛnne no betumi ayɛ soronko wɔ onipa biara ho, nanso nsɛnkyerɛnne bi wɔ hɔ a ɛtaa ba:

• Nufu mu nkɔso a ɛso tew anaasɛ enni hɔ .
• Ɔsram biara a onnya brayɛ (amenorrhea) .
• Onyin tenten sen afoforo a wɔn mfe yɛ pɛ.
• Nwi a enyin biara nni hɔ anaasɛ enyin kakraa bi pɛ wɔ mmeae te sɛ abasa ne mmeae a kokoam.

Fa no sɛ, seesei wo babea adi mfe 14 anaa 15. Ne nnamfo nyinaa adu mmerantebere ne mmabaabere mu na wɔafi ase rekɔ brayɛ mu. Nanso wo babea no da so ara nyɛ soronko. Ɔware sen mmofra afoforo, nanso ne nufu nkyerɛ sɛ ɛrenyin. Eyi ne bere a ebia awofo no ne abofra no nyinaa adwenem yɛ wɔn naa wɔ eyi ho.

Dɛn na ɛde Swyer Syndrome ba?

Ɛnyɛ bere nyinaa na wonim nea ɛde tebea yi ba ankasa . Nanso, abenfo gyina mprempren nhwehwɛmu so gye di sɛ tebea no fi awosu mu nkwaadɔm mu nsakrae a ɛka ɔbarima ne ɔbea ntam nsonsonoe. Sɛ yɛbɛka no tiawa a, nsakrae biara a ɛba awosu mu abɔde biara mu a ɛboa ma mmadwoa no nyin no betumi de Swyer Syndrome aba.

Nnipa binom nya tebea yi fi wɔn awofo hɔ . Ebia na wɔn awofo nnim mpo sɛ wɔanya nkwaadɔm mu nsakrae bi wɔ wɔn awosu mu nkwaadɔm no biako mu. Wɔ afoforo fam no, ebetumi asi kwa, a ɛkyerɛ sɛ awosu mu nkwaadɔm mu nsakrae foforo ba a ntease biara nnim.

Swyer Syndrome no fi nkwaadɔm mu nsakrae a ɛba awosu mu abɔde bi a wɔfrɛ no SRY (Sex-determining Region Y) mu, a ɛka nnipa 15% kosi 20%. Awosu ho animdefo gye di sɛ SRY awosu mu abɔde no na ɛboa ma ntini a enni nsonsonoe no nyin bɛyɛ awotwaa. Sɛ wɔsesa SRY awosu mu abɔde no a, saa adeyɛ yi nkɔ yiye, na mmadwoa no nnyin da.

Bio nso, nsakrae a ɛba awosu mu nkwaadɔm a edidi so yi mu nso betumi de Swyer Syndrome aba:

• MAP3K1
• DHH na ɛyɛ
• NR5A1 na ɛwɔ hɔ

Ebia ɛbɛyɛ te sɛ nea saa awosu mu nkwaadɔm yi yɛ den kakra, nanso eyinom yɛ awosu mu nkwaadɔm atitiriw a ɛka nna mu nkɔso ho no bi.

Dɛn ne nsɛnnennen a ebetumi afi Swyer Syndrome mu aba?

Nsɛnnennen atitiriw abien na ebetumi afi tebea yi mu aba:

• Gonadal tumor: Nnipa a wɔwɔ Swyer Syndrome no mu bɛyɛ 30% nya akisikuru wɔ gonads mu, a ɛtaa yɛ akuru ntini a ɛyɛ baabi a awotwaa no wɔ. Akisikuru a ɛtaa ba ne akisikuru bi a wɔfrɛ no gonadoblastoma . Ɛwom sɛ gonadoblastoma yɛ akisikuru a ɛnyɛ hu de, nanso nnuruyɛfo bu no sɛ ɛyɛ akisikuru bɔne a edi kan. Enti, sɛ́ ɔkwan a wɔbɛfa so asiw ano no, nnuruyɛfo taa kamfo kyerɛ sɛ wɔnyɛ oprehyɛn nyi gonadal streaks no mfi hɔ. Ɛwom sɛ eyi yɛ hu kakra de, nanso ɛho hia sɛ wosiw ɔhaw kɛse bi ano daakye.

• Nnompe mu yare: Sɛ wɔansa Swyer Syndrome a, ebetumi ama wo nnompe ayɛ mmerɛw. Bere kɔ so no, eyi betumi ama obi anya nnompe mu yare.Ayaresa a wɔde si hormone ananmu betumi aboa ma wɔasiw nnompe a ɛyɛ mmerɛw ne nnompe a ɛyera ano.

Ɔkwan bɛn so na wohu sɛ obi anya Swyer Syndrome?

Ɛtɔ mmere bi a, nnuruyɛfo tumi hu tebea no ansa na wɔawo wɔn anaa bere a wɔawo wɔn. Nanso nnipa pii nhu sɛ wɔwɔ bi kosi akyiri yi, bere a wonnya nnuu wɔn mpanyin afe so sɛnea na wɔhwɛ kwan no.

Sɛ wokɔ oduruyɛfo nkyɛn a, obedi kan ayɛ nipadua mu nhwehwɛmu na wabisa w’ayaresa ho abakɔsɛm. Afei, ebia wɔbɛhyɛ sɛ wɔnyɛ nhwehwɛmu ahorow na ama wɔasua pii afa wo nipadua no mu nipadua ne nkwaadɔm a ɛwɔ mu no ho. Eyinom bi ne:

• Karyotype sɔhwɛ: Eyi ma wuhu sɛnea wo chromosome ahorow no te pɛpɛɛpɛ.
• Awosu mu nhwehwɛmu: Eyi betumi ahu sɛ ebia nkwaadɔm mu nsakrae bi wɔ awosu mu nkwaadɔm no mu anaa.
• Pelvic ultrasound: Eyi betumi ahwɛ sɛnea nipadua no mu akwaa te sɛ awotwaa ne awotwaa (anaasɛ streak gonads a ɛhyɛ ananmu) te.
• MRI (Magnetic Resonance Imaging) scan: Eyi nso betumi ama woahu akwaa ahorow a ɛwɔ nipadua no mu no yiye.

Bere a ebia sɔhwɛ ahorow yi bɛyɛ te sɛ nea ɛyɛ den kakra no, ɛno ne nea ɛboa ma wohu yare no yiye.

Ɔkwan bɛn so na wɔsa Swyer Syndrome?

Wontumi nsa Swyer Syndrome no koraa. Enti, ayaresa botae atitiriw ne sɛ wobedi yare no ho sɛnkyerɛnne a wɔmpɛ ho dwuma, ama wo nnompe ayɛ den, na atew asiane a ɛwɔ hɔ sɛ wubenya kokoram no so. Nea ɛbɛyɛ na wɔatumi ayɛ eyi no, ebia wo duruyɛfo bɛkamfo nea edidi so yi akyerɛ:

• Oprehyɛn a wɔyɛ de yi gonadal streaks fi hɔ: Sɛnea madi kan aka no, eyi ho hia na ama asiane a ɛwɔ hɔ sɛ wobenya akisikuru no so atew.
• Hormone replacement therapy: Eyi betumi aboa ma brayɛ asan aba, aboa ma nufu no anyin, na asiw nnompe mu yare ano. Mpɛn pii no, nea ɛfa hormone ahorow a wɔde ma mmea ho.

Sɛ me ba wɔ Swyer Syndrome a, dɛn na meyɛ?

Mmabunbere nyɛ bere a ɛyɛ mmerɛw mma obiara. Wɔ abofra a ɔwɔ Swyer Syndrome fam no, ɛyɛ saa bere yi mu na wofi ase hu sɛ ɛsono wɔn nipadua wɔ wɔn mfɛfo ho. Eyi betumi anya abofra no adwene mu akwahosan so nkɛntɛnso kɛse.

Ebia wo ba no renya nkate pii wɔ eyi ho. Wo ne wɔn nkasa pefee . Ebia ɛbɛyɛ papa sɛ wobɛhwehwɛ mmoa afi ɔfotufo bi hɔ na waboa wɔn ma wɔadi nkate horow a emu yɛ den yi ho dwuma. Kae sɛ, wo dɔ, mmoa, ne ntease ho hia wo ba paa wɔ saa bere yi mu.

Ɛhia:Sɛ worekyerɛkyerɛ tebea yi mu akyerɛ wo ba a, si so dua sɛ wɔnyɛ "mmubuafo" koraa. Eyi nyɛ wɔn mfomso, ɛyɛ nsonsonoe a ɛwɔ ɔkwan a wɔn nipadua no anyin no mu ara kwa.

Dɛn ne obi a ɔwɔ Swyer Syndrome nkwa nna?

Ebia wobɛte nka sɛ wo ho tɔ wo bere a wote eyi. Nnipa a wɔwɔ Swyer Syndrome nkwa nna te sɛ nnipa a wonni tebea no de . Sɛ wɔsa no yiye a, ɛrenka wo anaa wo ba nkwa nna wɔ ɔkwan biara so.

So wobetumi asiw Swyer Syndrome ano?

Swyer Syndrome yɛ awosu mu tebea bi . Enti biribiara nni hɔ a wubetumi ayɛ de asiw ano. Ɛnyɛ obiara mfomso.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

• Sɛ woyɛ ɔbea na wunnya mfii wo nna ase ansa na woadi mfe 16 , akyinnye biara nni ho sɛ ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn.
• Sɛ woyɛ ɔwofo na wususuw sɛ wo ba no rekyɛ wɔ ne mpanyin afe so a , wo ne wo ba no mmofra oduruyɛfo nkasa. Wobetumi ahwɛ sɛnea wo ba no nyin na wɔakyerɛ wo sɛ ebia ayaresa ho hia anaa.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wohu sɛ wowɔ Swyer Syndrome a, ebia wobɛpɛ sɛ wubisa wo duruyɛfo nsɛm te sɛ:

• So wubetumi aka awosu mu nkwaadɔm mu nsakrae a ɛde tebea yi bae no akyerɛ me?
• Bere bɛn na ɛsɛ sɛ me anaa me ba fi ase sa yare a wɔde si hormone ananmu?
• So ɛho behia sɛ wɔyɛ me anaa me ba oprehyɛn? Sɛ saa a, bere bɛn na?
• So ɛsɛ sɛ wɔyɛ m’abusua mufo a aka no awosu mu nhwehwɛmu?
• Nneɛma foforo bɛn na wobɛkamfo akyerɛ? (e.g., afotu adwuma, mmoa akuw) .

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ w’adwene atu afra na wuntumi nsi pi bere a wuhu sɛ wo ba no wɔ Ɔbarima ne Ɔbea Nna mu Nkɔso (DSD) no. Ebia wubehu sɛ wo ba no wɔ Swyer Syndrome, ɔbarima ne ɔbea nna ho yare, wɔ ne mmerantebere ne mmabaabere mu, titiriw sɛ wɔn atipɛnfo nkyerɛ saa su ahorow yi bere a wɔrenyin no a.

Awiei koraa no, nkrasɛm a wɔde kɔ fie

Nea eye sen biara ne sɛ wobetumi de ayaresa adi Swyer Syndrome ho dwuma . Wo duruyɛfo betumi ayɛ ayaresa nhyehyɛe a wɔayɛ ama wo anaa wo ba no. Wobetumi nso akyerɛ wo nneɛma a ebetumi aboa wo ba ma watra ase yiye wɔ tebea no ho.

Nsuro. Ɛnyɛ wo nko ara.Nnipa pii wɔ hɔ a wɔte saa tebea yi mu. Sɛ wonya aduruyɛ mu afotu, mmoa, ne ntease a ɛfata a, obi a ɔwɔ Swyer Syndrome mpo betumi atra ase a ahoɔden wom na anigye wom. Nea ɛho hia ne sɛ wobɛhwehwɛ aduruyɛ mu afotu ntɛm ara na woadi ayaresa a wɔkamfo kyerɛ no akyi.

` Swyer Syndrome, XY Gonadal Dysgenesis, nna mu nkɔso, hormone, awosu mu nsakrae, mmerantebere ne mmabaabere, mmarima ne mmea ntam abusuabɔ, DSD