Xy dysgenesis gonadal: Tilmaamo ka mid ah fursadaha cudurka iyo dawaynta

Xy dysgenesis gonadal - waa arrin cudur dhif ah ee lagu dhasho, horumarinta taas oo ka dhigan xadgudub ku ah qaab-dhismeedka Y-koromosoomyada ah (waxaan ka hadleynaa maqnaanshaha hiddo-gaar ah ama isbedel ah go'doomin).

Sababaha cudurka

Sida caadiga ah, sababta oo degdeg ah cudurka tani waa isbedel ayaa dhibic ka mid ah hiddo-gaar ah, oo ku yaalla gacanta gaaban ah ee Y koromosoom, ama khasaaraha guud ee hiddo. koromosoom Tani waxay masuul ka tahay Avv borotiinka, ka qeyb qaadanaya galmada ee horumarinta embriyaha ah nooca lab ah. Sidaas darteed, sababta oo ah saamaynta hormoonka jinsiga lab maqan yahay, ilmaha caloosha ku jira oo keliya hal doorasho - si ay u sameeyaan nooca dumar ah. Sidaas darteed, ilmo aan dhalan ayaa phenotype dumar ah la karyotype "xy".

pathogenesis

Isbedelo ama maqnaanshaha of hiddo SRY keenaysaa in kaladuwan khaldan unugyada Sertoli, iyo sida natiijo ah, si maldevelopment ah tubules seminiferous.

Sidaas darteed, in kasta oo ay "rag ah" karyotype xy ah, xubnaha taranka ee ilmaha caloosha loo sameeyay iyo nooca dumar dhigay.

daliilka kiliinikada

Ilaa bilowgii calaamadaha qaangaadhnimada Svayera syndrome muuqda dhowaad ma ka muujiyay. Waxa ay ahayd oo keliya marka ay koraan gabdhaha ka weyn bilaabaan si ay u muujiyaan astaamo gaar ah:

• La'aanta timaha jirka iyo meelaha hoosteeda taranka dibadeed.
• Ku filnayn, horumarinta saboolka ah oo ka mid ah qanjidhada caanaha.
• kala duwan ah hypoplasia, infantilism ilmo-galeenka.
• hypoplasia siilka (yar).
• Aayar loogu dhawaaqaa sifooyinka galmada sare - "evnuhopodobny" ama nooca jidhka intersexual.
• Hypotrophy ama atrophy xabka ah ee xubnaha taranka.
• Hypoplasia taranka dibadeed (dibnaha iyo kintirka).
• infantilism Genital.
• Mararka qaar waxaa jira koritaanka xad-dhaafka ah ee jidhka firfircoon iyo qaybo ay: daanka hoose, suunka garbaha (taasoo keentay in formation garbaha ballaadhan) muruqa.
• Bilowgii hore ee baaluq in gabdhaha la Svayera syndrome ee aan macquul aheyn sababo la xiriira la'aanta ah ee estrogen in jidhkooda.
• Buuxi dhalaysnimo.

Baadhista xanuunada

Xaaladaha badankooda cudurka waxaa lagu gartaa at da'da 15-16 sano, inta lagu guda jiro qaangaadhnimada, marka waxa uu noqonayaa mid iska cad in bukaanka aan kaga hadlay sifooyinka galmada sare.

Isla mar ahaantaana, dumarka waxaa isbeddel, gaarey da'da this bilaabay in uu soo jeedin in dumarka la cabashooyinka dib u dhac in bilawga ah ee caadada.

Mararka qaarkood cudurka waa la fuliyay oo sabab u ah Kobac la'aanta iyo kansar gonads dhacsan.

ogaanshaha ah "xy dysgenesis gonadal" waxay ku salaysan tahay arrimo soo socda:

• Baaritaanka jirka ee bukaanka.
• Baaritaanka Ultrasound.
• Hysterosalpingography.

Si kastaba ha ahaatee, xaqiijinta cudurka waa suurto gal oo keliya macnaha daraasadda of chromatin galmada, kaas oo lagu ogaadaa joogitaanka karyotype lab la phenotype dumar ah.

daaweynta Options

Daaweynta syndrome ee Svayera fuliyay jiho dhowr.

1. Ugu horrayn soo saaray spaying - sabab u ah itimaalka sare oo ay diinta ka galay burooyinka halista ah.
2. Ka dib markii ovariectomy xilsaaray daaweynta substitutive la wakiilada hormoon. Tani waxay gacan ka geysaneysaa horumarinta dabeecadaha galmada sare.
3. Marka ilmo galeenka si fiican u horumariyo, waxaa suuro gal ah ee uurka iyo ilmo caafimaad qaba (uurka waxay dhacdaa iyada oo sababtu tahay giisa iyo dheddiga).

Cudurku waa in ay ahaadaan distinguished ka syndrome la mid ah by magaca Svayera-James-MacLeod. Xaaladani waxay, sidoo kale la mid ah ee daliilka lymphangioleiomyomatosis, cudurada saamaynaya unugyada sambabada. Xy dysgenesis gonadal iyo lymphangioleiomyomatosis - cudur oo kala duwan.