Ngaba umntwana wakho unengxaki yokukhula ngokwesondo? Funda ngeSwyer Syndrome (XY Gonadal Dysgenesis)

Ngaba wakha weva ngomntu one-XY chromosomes ozalwa eyintombazana? Kuvakala kungaqhelekanga, akunjalo? Kodwa kunokwenzeka ngokwenene. Le meko ingaqhelekanga ibizwa ngokuba yiSwyer Syndrome. Mhlawumbi unemibuzo emininzi engqondweni yakho. Makhe sithethe ngayo yonke ngokweenkcukacha.

Yintoni iSwyer Syndrome?

Ngamafutshane, iSwyer Syndrome yimeko apho iichromosomes zomntu ziyi-XY, oko kuthetha ukuba zezamadoda, kodwa amalungu awo angaphandle ezizalana nawo ngawabasetyhini. Ngokwesiqhelo, xa kukho iichromosomes ze-XY, kuvela ipenis kunye ne-scrotum. Nangona kunjalo, abantu abaneSwyer Syndrome bakhula i-vagina, isibeleko kunye nemibhobho ye-fallopian.

Aba bantu abanazo izitho zangasese, oko kukuthi, ama-ovari okanye amasende. Endaweni yoko, baneziqwenga zesikhumba ezingasebenzi kwaphela. Oogqirha babiza oku ngokuba yi-streak gonads. Ngenxa yoku, abadluli ebusheni ngaphandle kokuba bafumana unyango lokutshintshwa kweehomoni . Abanawo nokukwazi ukukhulelwa ngokwendalo. Nangona kunjalo, kunokwenzeka ukuba nomntwana ngeendlela ezifana nokunikezelwa kweqanda .

Elinye igama leSwyer Syndrome yi-XY gonadal dysgenesis. Apha, igama elithi "gonadal" libhekisa kwi-gonads, kwaye elithi "dysgenesis" libhekisa "kuphuhliso olungaqhelekanga." Le meko iwela kudidi lwe-intersex. Oogqirha bayibiza ngokuba kukuphazamiseka kophuhliso lwesondo, okanye ukuphazamiseka kophuhliso lwesondo (DSD) .

Ixhaphake kangakanani iSwyer Syndrome?

Esi sisifo esingaqhelekanga kakhulu . Sichaphazela phantse umntwana omnye kwiintsana ezingama-80,000 ezizalwayo. Ngoko ke ungacinga ukuba ipesenti iphantsi kangakanani.

Zithini iimpawu zomntu oneSwyer Syndrome?

Le meko idla ngokuchongwa ngexesha lokufikisa , ngesiqhelo malunga nexesha lokufikisa. Iimpawu zingahluka ukusuka kumntu ukuya komnye, kodwa kukho iimpawu eziqhelekileyo:

• Ukukhula kwamabele okunciphileyo okanye ukungaphuhli kakuhle kwawo .
• Ukungabikho kokuya exesheni rhoqo ngenyanga (i-amenorrhea) .
• Ukukhula ube mde kunabanye abaneminyaka efanayo.
• Akukho okanye kukhula kancinci kweenwele kwiindawo ezifana namakhwapha nakwiindawo zabucala.

Khawucinge nje, intombi yakho ngoku ineminyaka eli-14 okanye eli-15 ubudala. Bonke abahlobo bayo bafikelele kwinqanaba lokufikisa kwaye baqalile ukuya exesheni. Kodwa intombi yakho ayikahlukanga. Inde kunabanye abantwana, kodwa amabele ayo awabonisi zimpawu zokukhula. Kulapho abazali kunye nomntwana banokuba namathandabuzo ngale nto.

Yintoni ebangela iSwyer Syndrome?

Isizathu esichanekileyo sale meko asisoloko saziwa . Nangona kunjalo, ngokusekelwe kuphando lwangoku, iingcali zikholelwa ukuba le meko ibangelwa kukuguquka kwezakhi zofuzo ezichaphazela ukwahluka kwesini. Ngamafutshane, naluphi na utshintsho kulo naliphi na i-gene olunegalelo ekuphuhlisweni kwamasende lunokubangela i-Swyer Syndrome.

Abanye abantu bazuze esi sifo kubazali babo . Mhlawumbi abazali babo babengazi nokuba banotshintsho oluthile kwenye yezakhi zabo zofuzo. Kwabanye, oku kunokwenzeka ngokungacwangciswanga, nto leyo ethetha ukuba utshintsho olutsha lwezakhi zofuzo lwenzeka ngaphandle kwesizathu esicacileyo.

I-Swyer Syndrome ibangelwa kukuguquka kwejini ebizwa ngokuba yi-SRY (Sex-determining Region Y), echaphazela abantu abayi-15% ukuya kwi-20%. Iingcali zejini zikholelwa ukuba ijini ye-SRY inoxanduva lokunceda izicubu ezingahlukaniyo zikhule zibe ngamasende. Ukuba ijini ye-SRY iyatshintshwa, le nkqubo ayisebenzi kakuhle, kwaye amasende awaphuhli.

Ukongeza, iSwyer Syndrome inokubangelwa lutshintsho kwiijini ezilandelayo:

• MAP3K1
• I-DHH
• I-NR5A1

Ezi jini zisenokubonakala ziyinkimbinkimbi kancinci, kodwa ezi zezinye zejini eziphambili ezibandakanyekayo ekukhuleni ngokwesondo.

Ziziphi iingxaki ezinokubakho zeSwyer Syndrome?

Kukho iingxaki ezimbini eziphambili ezinokuvela kule meko:

• Ithumba le-gonadal: Malunga nama-30% abantu abane-Swyer Syndrome bakhula ithumba kwi-gonads, ezidla ngokuba zizicubu ezivalekileyo ezakha apho kukho khona ama-ovari. Uhlobo oluqhelekileyo lwethumba luhlobo lwethumba olubizwa ngokuba yi-gonadoblastoma . Nangona i-gonadoblastoma iyithumba elingenobungozi, oogqirha bayijonga njengesandulela seethumba ezinobungozi. Ke ngoko, njengendlela yokuthintela, oogqirha badla ngokucebisa ukususwa kwemigca ye-gonadal ngotyando . Nangona oku kuyoyikisa kancinci, kubalulekile ukuthintela ingxaki enkulu kwixesha elizayo.

• I-Osteoporosis: Ukuba ayinyangwa, i-Swyer Syndrome inokubangela ukuba amathambo akho abe buthathaka. Ekuhambeni kwexesha, oku kunokukhokelela kwi-osteoporosis.Unyango lokutshintshwa kwamahomoni lunokunceda ekuthinteleni ukuncitshiswa kwamathambo kunye nokulahleka kwamathambo.

Ifunyanwa njani iSwyer Syndrome?

Ngamanye amaxesha, oogqirha banokuyibona le meko ngaphambi okanye ngexesha lokuzalwa. Kodwa abantu abaninzi abafumani ukuba banayo de kube kamva, xa bengafiki kwixesha lokufikisa njengoko bekulindelwe.

Xa usiya kugqirha, uya kuqala enze uvavanyo lomzimba aze akubuze ngembali yakho yezonyango. Emva koko, banokuyalela iimvavanyo ezahlukeneyo ukuze bafunde ngakumbi nge-anatomy yangaphakathi yomzimba wakho kunye nokwakheka kwe-chromosome. Ezinye zezi ziquka:

• Uvavanyo lweKaryotype: Oku kukuvumela ukuba ubone ipateni echanekileyo yeechromosomes zakho.
• Uvavanyo lwemfuza: Oku kunokufumanisa ukuba kukho na utshintsho kwimfuza.
• I-ultrasound yepelvic: Oku kunokujonga imeko yezitho zangaphakathi ezifana nesibeleko kunye nama-ovari (okanye ii-gonads ezizithatha indawo yazo).
• Iskeni ye-MRI (Magnetic Resonance Imaging): Oku kunokubonelela ngomfanekiso ocacileyo wamalungu angaphakathi.

Nangona ezi mvavanyo zisenokuvakala zinzima kancinci, zezona zinceda ekwenzeni uxilongo oluchanekileyo.

Inyangwa njani iSwyer Syndrome?

I-Swyer Syndrome ayinakunyangwa ngokupheleleyo. Ngoko ke, iinjongo eziphambili zonyango kukulawula iimpawu ezingafunekiyo, ukugcina amathambo akho omelele, kunye nokunciphisa umngcipheko wakho wokuba nomhlaza. Ngenxa yesi sizathu, ugqirha wakho unokucebisa oku kulandelayo:

• Utyando lokususa imicu ye-gonadal: Njengoko benditshilo ngaphambili, oku kubalulekile ukunciphisa umngcipheko weethumba.
• Unyango lokutshintshwa kwamahomoni: Oku kunokunceda ukubuyisela ixesha lokuya exesheni, kuncede ekukhuleni kwamabele, kwaye kuthintelwe i-osteoporosis. Ngokuqhelekileyo kubandakanya ukunika amahomoni abasetyhini.

Ndingenza ntoni ukuba umntwana wam uneSwyer Syndrome?

Ixesha lokufikisa alilula kuye nabani na. Kumntwana oneSwyer Syndrome, ngeli xesha uqala ukuqonda ukuba imizimba yakhe yahlukile kontanga yakhe. Oku kunokuba nefuthe elikhulu kwimpilo yengqondo yomntwana.

Umntwana wakho usenokuba uneemvakalelo ezininzi ngale nto. Thetha naye ngokukhululekileyo . Kungaba ngumbono olungileyo ukufuna uncedo lomcebisi ukuze amncede ajongane nezi mvakalelo zinzima. Khumbula, uthando lwakho, inkxaso yakho, kunye nokuqonda kwakho kubaluleke kakhulu kumntwana wakho ngeli xesha.

Kubalulekile:Xa uchazela umntwana wakho ngale meko, gxininisa ukuba "akakhubazekile" konke konke. Asikuko ukuba bakhubazekile, ngumahluko nje kwindlela umzimba wabo okhule ngayo.

Ingakanani iminyaka yobomi bomntu one-Swyer Syndrome?

Ungaziva ukhululekile xa usiva oku. Ixesha lokuphila kwabantu abaneSwyer Syndrome liyafana nelo labantu abangenaso esi sifo . Ukuba sinyangwa ngendlela efanelekileyo, asiyi kuchaphazela ubomi bakho okanye bomntwana wakho nangayiphi na indlela.

Ngaba iSwyer Syndrome ingathintelwa?

I-Swyer Syndrome yimeko yemfuza . Ngoko ke akukho nto unokuyenza ukuyithintela. Ayilotyala lamntu.

Ndifanele ndimbone nini ugqirha?

• Ukuba ungumfazi kwaye awukaqali ukuya exesheni lakho uneminyaka eli-16 ubudala , ngokuqinisekileyo kuya kufuneka ubone ugqirha.
• Ukuba ungumzali kwaye ucinga ukuba umntwana wakho ulibazisekile ekufikiseni , thetha nogqirha wabantwana womntwana wakho. Banokujonga ukukhula komntwana wakho baze bakuxelele ukuba unyango luyadingeka na.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba ufunyaniswe une-Swyer Syndrome, ungabuza ugqirha wakho imibuzo efana nale:

• Ungandixelela ukuba loluphi utshintsho lwezakhi zofuzo olubangele le meko?
• Ndifanele ndiqalise nini unyango lokutshintshwa kweehomoni mna okanye umntwana wam?
• Ngaba mna okanye umntwana wam kuya kufuneka sityandwe? Ukuba kunjalo, nini?
• Ngaba intsapho yam yonke kufuneka iye kuvavanyo lwemfuza?
• Zeziphi ezinye izixhobo onokuzicebisa? (umz., iinkonzo zokunika iingcebiso, amaqela enkxaso)

Kuqhelekile ukuziva udidekile kwaye ungaqinisekanga xa ufumanisa ukuba umntwana wakho uneSifo soPhuhliso lwezeSondo (DSD). Ungafumanisa ukuba umntwana wakho uneSwyer Syndrome, imeko ye-intersex, ngexesha lokufikisa, ingakumbi ukuba oontanga bakhe ababonisi ezi mpawu njengoko ekhula.

Okokugqibela, umyalezo oya ekhaya

Eyona nto ingcono kukuba iSwyer Syndrome inokulawulwa ngonyango . Ugqirha wakho angenza isicwangciso sonyango esilungiselelwe wena okanye umntwana wakho. Banokukubonisa nezixhobo ezinokunceda umntwana wakho aphile ngempumelelo nale meko.

Musa ukoyika. Awuwedwa.Baninzi abantu abaphila nale meko. Ngeengcebiso zonyango ezifanelekileyo, inkxaso, kunye nokuqonda, nomntu oneSwyer Syndrome unokuphila ubomi obusempilweni nobonwabisayo. Eyona nto ibalulekileyo kukufuna iingcebiso zonyango ngokukhawuleza kwaye ulandele unyango olucetyiswayo.

Isifo sikaSwyer , i-XY Gonadal Dysgenesis, uphuhliso lwesondo, iihomoni, utshintsho lwemfuza, ukufikisa, isini esiphakathi, i-DSD