Ðe dzesi siawo le viwònyɔnua ŋua? Mina míaƒo nu tso Triple X Syndrome ŋu

Ède dzesii kpɔ be viwònyɔnua ƒe nuwɔna to vovo vie wu ɖevi bubuwo tɔ, alo be eƒe tsitsi tsi megbea? Alo, ne nyɔnu tsitsie nènye la, ɖe nèle agbagba dzem be yeake ɖe nusi gbɔ lãmesẽkuxi aɖewo tso ŋua? Egbea míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si ame geɖe mese kpɔ o, gake nyɔnuviwo koe wògblẽa nu le ŋu. Woyɔa esia be Triple X Syndrome. Mègatsi dzi o, míaƒo nu tso esia ŋu le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.

Nukae nye Triple X Syndrome?

Kpuie ko la, Triple X Syndrome nye nɔnɔme si me wodzia nyɔnuvi kple X domenyiŋusẽfianu ɖeka kpee le eƒe lãmenugbagbeviwo me, ke menye X domenyiŋusẽfianu eve siwo sɔ o. Wogayɔa esia be trisomy X syndrome, alo 47,XXX, abe alesi ɖɔktawo yɔnae ene.

Bu eŋu kpɔ, lãmenugbagbevi sue miliɔn geɖe ye le míaƒe ŋutilã me. Míaƒe domenyiŋusẽfianu ŋuti nyatakakawo, abe míaƒe kɔkɔme, amadede, kple alesi míete ŋu xɔa dɔléle bɔbɔe ene, le lãmenugbagbevi siawo dometɔ ɖesiaɖe me. Wodzraa nyatakaka siawo ɖo ɖe nusiwo woyɔna be domenyiŋusẽfianu (chromosomes) me. Le mama dedie nu la, domenyiŋusẽfianu eve 23, alo domenyiŋusẽfianu 46 ye le amegbetɔ si. Esiawo dometɔ ɖeka koe afia míaƒe gbɔdɔdɔ. Zi geɖe la, X domenyiŋusẽfianu eve (XX) nɔa nyɔnu ŋu, eye zi geɖe la, X domenyiŋusẽfianu ɖeka kple Y domenyiŋusẽfianu ɖeka (XY) nɔa ŋutsu ŋu.

Gake X domenyiŋusẽfianu etɔ̃ le amesi ŋu Triple X Syndrome le si le woƒe lãmenugbagbeviwo katã me, alo le woƒe lãmenugbagbevi aɖewo me ko. Ne lãmenugbagbevi aɖewo koe X domenyiŋusẽfianu sia si sɔ gbɔ wu le la, woyɔnɛ be 46,XX/47,XXX mosaicism.

Ðewohĩ trisomy X ƒe dzesi aɖeke madze ŋuwò o , alo àte ŋu akɔ wu ame bubuwo. Ate ŋu asesẽ na wò hã be nàdzi vi alo ato dzinukpɔkpɔ me kaba, gake esia medzɔna ɖe amesiame si ŋu dɔlélea le dzi o.

Aleke gbegbee nɔnɔme sia bɔe?

Zi geɖe la, wokpɔa nɔnɔme sia le nyɔnuvi siwo wodzi yeyee abe ɖeka le 900 va ɖo 1000 ɖesiaɖe me ŋu. Esia fia be ɖevi mawo ate ŋu anɔ Sri Lanka hã. Ke hã, esesẽna be míanya xexlẽme si tututu wòle. Esi wònye be ame geɖe siwo ŋu dɔléle sia le meɖea dzesi aɖeke fiana o ta la, womedia dodokpɔ o.

Nukae nye Triple X ƒe dɔlélea ƒe dzesiwo?

Dzesi vovovowo le amesiwo ŋu Triple X Syndrome le dome. Ðewohĩ dzesi aɖeke manɔ ŋuwò o, alo wò dzesiawo nu fa ale gbegbe be màde dzesii o. Alo, ɖewohĩ ŋutilã ƒe nɔnɔme aɖewo, ahɔhɔ̃ me kuxiwo, alo atikewɔwɔ me nɔnɔme bubu siwo do ƒome kple Triple X Syndrome la dometɔ aɖewo le ŋuwò.

Ŋutilã ƒe nɔnɔmewo

Ame geɖe siwo ŋu triple X syndrome le la kɔkɔ wu ame bubu siwo nye woƒe ƒemetɔwo. Ate ŋu adzɔ hã be woakɔ wu alesi ɖɔktawo agblɔe ɖi le wo dzilawo ƒe kɔkɔme nu. Tsɔ kpe ɖe eŋu la, ŋutilã ƒe nɔnɔme ʋɛ bubu siwo menya kpɔna dzea sii bɔbɔe o ate ŋu anɔ anyi:

• Ŋkuawo dome didime lolo wu alesi wòle dzɔdzɔmee ( hypertelorism ).
• Ŋutilã ƒe akpa aɖe (epicanthal folds) ƒe anyinɔnɔ le ŋkua ƒe dzogoe ememetɔ.
• Asibidɛ suea ƒe bɔbɔ alo eƒe ƒoƒo ( clinodactyly ).
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ ( hypotonia ), si fia be ŋutilã ƒe ŋusẽ ate ŋu aɖiɖi vie.

Nɔnɔme siwo do ƒome kple lãmekawo ƒe dɔwɔwɔ

Ame aɖewo siwo ŋu triple X syndrome le ate ŋu akpɔ tsitsi ƒe megbetsitsi alo susu ƒe lãmesẽkuxiwo. Esiawo dometɔ aɖewoe nye:

• Tsitsi ƒe megbetsitsi : Le kpɔɖeŋu me, nuwo abe nuƒoƒo ƒe megbetsitsi kple azɔlizɔzɔ ƒe megbetsitsi ene.
• Nusɔsrɔ̃ ƒe kuxiwo .
• Susu ƒe dɔmawɔmawɔ nyuie/dɔwɔwɔ fũu akpa ƒe dɔléle (ADHD ).
• Seselelãme ƒe kuxiwo abe dzimaɖitsitsi kple blanuiléle ene.
• Sidzedze ƒe dɔmawɔmawɔ nyuie fafɛ .

Atikewɔwɔ ƒe nɔnɔme bubuwo

Togbɔ be ƒã hã la, ame aɖewo siwo ŋu triple X syndrome le ate ŋu ato nɔnɔmewo abe:

• Dɔlélenutsiŋutete ƒe nɔnɔmewo .
• Tɔtrɔ siwo vaa dzi ƒe wɔwɔme me.
• Aɖuɖɔtoedɔléle enuenu ( UTI ).
• Vidzinuwo- aɖuɖɔtoe ƒe dɔmawɔmawɔ nyuie alo dɔmawɔmawɔ nyuie.
• Ayikuwo ƒe dɔmawɔmawɔ nyuie.
• Azigolo ƒe tsitsi kaba alo eƒe kpododonu .
• Alɔ̃madɔmadɔ .

Ðo ŋku edzi be menye amesiamee akpɔ dzesi siawo katã o. Ame aɖewo ate ŋu akpɔ ɖeka alo eve, eye ɖeke manɔ ame aɖewo si kura o.

Nukae hea triple X ƒe dɔlélea vɛ?

Triple X syndrome nye domenyiŋusẽfianu ƒe nɔnɔme si tso X domenyiŋusẽfianu etɔ̃lia ƒe anyinɔnɔ gbɔ. Togbɔ be domenyiŋusẽfianue wònye hã la, zi geɖe la, womenyia dome tso ame dzilawo gbɔ o . Zi geɖe la, edzɔna le vome. Eyae nye be vodada si dzɔ le domenyiŋusẽfianu ƒe mama me le vidadaa ƒe azi lãmenugbagbevi alo vifofoa ƒe tsinyenye ƒe lãmenugbagbevi ƒe wɔwɔme me gbɔe X domenyiŋusẽfianu si sɔ gbɔ wu la tsona. Esia nye nɔnɔme si dzɔna ɣeaɖewoɣi.

Gake wogblɔ be ne vidadaa xɔ wu ƒe 35 esime wodzi ɖevia la, ate ŋu adzɔ be ɖevia naxɔ triple X syndrome vie.

Aleke nèwɔ de dzesi esia?

Le nyateƒe me la, ne atikewɔwɔ me kuxi aɖeke mele ŋuwò alo tsitsi ƒe megbetsitsi aɖeke mele ŋuwò o la, anɔ eme ŋutɔ be womakpɔ dɔléle sia adze sii o. Gake ne ɖɔkta aɖe susui be trisomy X ƒe dɔléle le ŋuwò (alo viwòa) la, aɖo aɖaŋu be woado domenyiŋusẽfianu kpɔ. Wogayɔa dodokpɔ sia be karyotype alo chromosome microarray.

Ame aɖewo nya be triple X syndrome le yewo ŋu ne wodo yewo kpɔ le vidzidzinyawo ta.

Ne èfɔ fu, eye nèxɔ ƒe 35 kple edzivɔ, alo wò ŋutɔ wò dɔléle si nye triple X syndrome le ŋuwò la, wò ɖɔkta ate ŋu aɖo aɖaŋu be woado domenyiŋusẽfianu kpɔ do ŋgɔ na vidzidzi, elabena viwò si le dɔme na wò la ate ŋu axɔ dɔlélea. Esiawo ate ŋu anye dodokpɔ si me womewɔa nuvevi ame o do ŋgɔ na vidzidzi (NIPT ), amniocentesis , alo chorionic villi sampling (CVS ). Àte ŋu anya nu tso triple X syndrome hã ŋu le vome ne èle dodokpɔ bubuwo wɔm be yeanya nu geɖe tso viwòa ŋu. Ne dodokpɔ siwo wowɔ do ŋgɔ na vidzidzi ɖee fia be triple X syndrome hã la, ele vevie kokoko be woado domenyiŋusẽfianu kpɔ le viwòa dzidzi vɔ megbe atsɔ aɖo kpe dɔlélea dzi .

Aleke wowɔa atike nɛ?

Atike aɖeke koŋ meli na triple X syndrome o. Gake dɔlélea didi kaba kple nudede eme ate ŋu akpe ɖe ɖevi siwo ƒe tsitsi tsi megbe la ŋu.

Ne èkpɔ dɔlélea vɔ la, wò ɖɔkta ate ŋu aɖe gbe be nàgawɔ dodokpɔ geɖe, le kpɔɖeŋu me:

• Ayiku ƒe ultrasound be woatsɔ alé ŋku ɖe wò ayiku ƒe wɔwɔme ŋu.
• Kpɔ dzidɔŋutinunyala gbɔ alo nàwɔ EKG alo echocardiogram be nàlé ŋku ɖe wò dzi ƒe nɔnɔme ŋu.
• Ahɔhɔ̃ŋutinunya ƒe aɖaŋuɖoɖo kple ahɔhɔ̃ŋutinunya ƒe dodokpɔ .

Tsɔ kpe ɖe eŋu la, wò ɖɔktawo ate ŋu akpe ɖe ŋuwò nàkpɔ dzesi ɖesiaɖe si do ƒome kple triple X syndrome gbɔ. Woate ŋu aɖo wò ɖe eŋutinunyala bibiwo abe:

• Endocrinology (kuxi siwo do ƒome kple lãmetsiŋusẽ) ŋuti nunyala bibi.
• Lãmesẽfefewɔwɔ (na nuwo abe lãmekawo ƒe gbɔdzɔgbɔdzɔ ene).
• Dɔwɔwɔ ƒe atikewɔwɔ (be woakpe ɖe gbesiagbedɔwo ŋu).
• Nuƒoƒo ƒe atikewɔwɔ (na nuƒoƒo ƒe kuxiwo).
• Susuŋutinunya (na susu ƒe lãmesẽkuxiwo).
• Vidzidzi ŋuti nunyala bibi aɖe si naa aɖaŋuɖoɖo le vidzidzi kple ɖoɖowɔwɔ ɖe ƒome ŋu ŋu.
• Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ne èdi be yeadzi vi.

Ne azigolo ƒe dɔmawɔmawɔ nyuie le ŋuwò kaba la, wò ɖɔkta adzro viɖe kple kuxi siwo le estrogen- dɔdamɔnu zazã me kpli wò.

Ðe woate ŋu axe mɔ ɖe Triple X Syndrome nua?

Le nyatakaka siwo li fifia nu la, mɔ aɖeke meli si dzi woato axe mɔ ɖe triple X syndrome nu o. Ne èle afɔku gã aɖe me be yeadzi vi si ŋu triple X syndrome le (e.g., ne èxɔ wu ƒe 35) la, anyo be nàƒo nu kple wò ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple domenyiŋusẽfianu dodokpɔ do ŋgɔ na vidzidzi ŋu.

Mɔkpɔkpɔ kae le amesiwo le nɔnɔme sia lém ŋu?

Le ame akpa gãtɔ gome la, triple X syndrome mekpɔa ŋusẽ gã aɖeke ɖe woƒe agbenɔnɔ dzi o. Le goawo katã me la, dɔlélea didi kaba kple nudede eme ate ŋu akpe ɖe ame ŋu be wòaɖe ŋusẽ si tsitsi ƒe megbetsitsi kpɔna ɖe ame dzi dzi akpɔtɔ . Ele be woado ɖeviwo kpɔ edziedzi be woalé ŋku ɖe woƒe tsitsi kple tsitsi ŋu. Esi wònye be dzesiwo ate ŋu ato vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ ta la, ele vevie be nàda wo kpɔ bliboe be nànya wò nuhiahiã tɔxɛwo.

Aleke agbenɔƒe le?

Triple X syndrome mekpɔa ŋusẽ ɖe agbenɔƒe dzi ŋutɔŋutɔ o. Gake nugbegblẽ le ame ŋu dometɔ aɖewo ate ŋu akpɔ ŋusẽ ɖe ame dzi. Zi geɖe la, amesiwo ŋu triple X syndrome le nɔa agbe si sɔ, abe amesiwo si X domenyiŋusẽfianu eve le ene.

Ðe esia nye nuwɔametɔnyenyea?

Ao, triple X syndrome menye nuwɔametɔnyenye le eɖokui si o. Ke hã, nɔnɔme aɖewo siwo do ƒome kplii (e.g. nusɔsrɔ̃ ƒe kuxi sesẽwo, susu ƒe lãmesẽkuxiwo) ate ŋu axe mɔ na wò ŋutete be nàdi dɔ ahalée ɖe te. Ne nenemae la, le dukɔ aɖewo me la, àte ŋu abia nuwo abe Hadomegbenɔnɔ ƒe Dedienɔnɔ ƒe Nuwɔametɔwo ƒe gakpekpeɖeŋuwo ene . Le Sri Lanka la, ne dɔ didi le sesẽm na wò la, àte ŋu adi mɔ siwo dzi nàto axɔ kpekpeɖeŋu aɖe tso dziɖuɖua alo dɔwɔƒe bubuwo gbɔ hã.

Aleke triple X ƒe dɔlélea kpɔa ŋusẽ ɖe ahɔhɔ̃a dzii?

Esi wònye be triple X syndrome nye dɔléle si mebɔ o ta la, womewɔ numekuku gã geɖe tso amesiwo ŋu dɔlélea le ƒe ahɔhɔ̃ ŋu o. Le numekuku sue aɖe si wowɔ le ɖevi 35 siwo ŋu trisomy X le ŋu me la, numekulawo kpɔe be woƒe ahɔhɔ̃ le sue wu ɖevi siwo xɔ ƒe si sɔ kple ŋutsu alo nyɔnu nyenye tɔ. Ahɔhɔ̃a ƒe akpa siwo kpɔa gome le gbegbɔgblɔ kple dɔdzikpɔlawo ƒe dɔwɔwɔ me lae wògblẽ nu le wu. Susu me dɔléle aɖe hã nɔ ɖevi siawo dometɔ 40% ŋu si woyɔna be dzimaɖitsitsi. Gake numekuku gãwo hiã be woatsɔ aɖo kpe nusiwo ŋu woke ɖo siawo dzi.

Nusi wòle be míasrɔ̃ tso esia me (Take-Home Message) .

Ðewohĩ viwòa medea bubu eɖokui ŋu boo o, alo xɔlɔ̃dzedze le kuxi me tom. Alo ɖewohĩ ɣeyiɣi didi aɖee nye esia nèle agbagba dzem be yeadzi vi eye mèkpɔ dzidzedze o. Ne èsena le ɖokuiwò me ɣesiaɣi be yeto vovo vie tso ame bubu ɖesiaɖe gbɔ hã la, domenyiŋusẽfianu ƒe dɔléle aɖe didi ate ŋu anye nya gã aɖe. Ɣeaɖewoɣi la, dɔléle ƒe dzesi xɔxɔ ate ŋu anye gbɔdzɔe, abe, "Oo, esiae nye nusi le edzi yim ɣeyiɣi didi aɖee nye sia." Ɣebubuɣiwo la, ate ŋu ase le eɖokui me be yedo vɔvɔ̃ na ame, alo abe ɖe wòwu enu ene.

Gake dɔléle si wokpɔna nye nyatakaka siwo mènya tsã o. Exɔa ɣeyiɣi hafi woate ŋu alɔ̃ ɖe edzi ahatrɔ ɖe eŋu. Ne èle ɣeyiɣi si nàgblɔe na viwòa kple alesi nàwɔe ŋu bum la, ƒo nu kple viwòa ƒe ɖɔkta. Woate ŋu atsɔ wò aɖo kpekpeɖeŋunahawo kple dɔwɔnu bubuwo gbɔ. Ðo ŋku edzi be menye wò ɖeka koe o. Nu vevitɔe nye be nànya nɔnɔme siawo eye nàxɔ kpekpeɖeŋu si nèhiã.

` Triple X Syndrome, Triple X Syndrome, Domenyiŋusẽfianu ƒe Dɔlélewo, Nyɔnuwo ƒe Lãmesẽ, Chromosomes, Tsitsi ƒe Heheɖemegbe, X Chromosome