Xy gonadal dysgenesis: zvaidiwa chirwere uye marapirwo

Xy gonadal dysgenesis - zviri zvikuru isingawanzowanikwi vachiberekwa chirwere, kukura iyo chinoumba kutyora Y-chromosome mamiriro (tiri kutaura pamusoro pasina Gene kana mutation woga).

Zvinokonzera chirwere

Kazhinji, pakarepo chikonzero chirwere ichi ndiyo pfungwa mutation womumwe Gene, iri pfupi ruoko Y-chromosome, kana zvachose kurasikirwa majini. chromosome Izvi anokonzera mapuroteni usage, anotora rutivi zvepabonde embryo kukura varume mhando. Somugumisiro, nokuti migumisiro vanhurume kemikari vasipo, fetus imwe chete nzira - kuumba mukadzi mhando. Somugumisiro, mwana asati aberekwa ane hadzi phenotype ne karyotype "xy".

pathogenesis

Kunotouraya kana kusavapo SRY Gene kunotungamirira vainyeperwa Kusiyanisa Sertoli masero, uye sezvo zvakaguma kuti maldevelopment pamusoro seminiferous tubules.

Somugumisiro, pasinei "rume" ari xy karyotype, nhengo dzakavandika ari mudumbu vari yakaumbwa uye pamusoro munhukadzi mhando.

zvekuchipatara kuratidzwa

Kusvikira pakutanga kuyaruka zviratidzo Svayera chirwere anotarira anenge asina kuratidzwa. Yakanga chete sezvavanokura nevasikana vakuru vanotanga kuratidza unhu:

• Kushaikwa muviri bvudzi uye underarm nzvimbo kwokunze nhengo dzokubereka nadzo.
• Kukwana, kukura varombo mammary mumasero.
• Kusiyanisa inosiyana hypoplasia, muchibereko chemusikana infantilism.
• Kusangana nekutsi kwemukadzi hypoplasia (ishoma).
• Zvinyoronyoro akazivisa yechipiri pabonde maitiro - "evnuhopodobny" kana intersexual muviri mhando.
• Hypotrophy kana atrophy pamusoro mucosa pakati sikarudzi.
• Hypoplasia of kwokunze nhengo dzokubereka nadzo (labia uye clitoris).
• Pasikarudzi infantilism.
• Mune zvimwe zviitiko pane kunyanya kukura yezviri muviri uye nhengo dzayo; rezasi shaya, bandauko bhandi (zvichiguma nokuumbwa dzakafara mapfudzi) tsandanyama.
• Kutanga kuyaruka pavasikana vane chirwere Svayera zvisingabviri nokuda kushaya inonzi estrogen mumiviri yavo.
• Complete kusabereka.

Diagnostics

Muzviitiko zvizhinji maperembudzi chirwere pazera makore 15-16, pakuyaruka, kana zvinova pachena kuti murwere asina haana yechipiri kurara maitiro.

Panguva iyoyowo, vakadzi vane mutation, richisvika zera ichi vari kutanga kuenda gayinakorojisiti pamwe zvichemo zviri kunonoka kutanga kuenda kumwedzi.

Dzimwe nechirwere rinoitwa somugumisiro dysplasia uye malignancy underdeveloped gonads.

The chirwere kuti "xy gonadal dysgenesis" inobva zvinhu zvinotevera:

• Kuongorora panyama zvomurwere.
• Ultrassom ongororo.
• Hysterosalpingography.

Zvisinei, nokusimbisa nechirwere zvinogoneka chete kuburikidza nokudzidza pabonde chromatin, izvo anoona kuvapo hono karyotype nemukadzi phenotype.

kurapwa Options

Pakurapa chirwere Svayera kuitwa kakawanda nzira.

1. Zvikurukuru dzikabereka spaying - nokuda mukuru fungidziro dzavo kutendeuka kupinda nyanyisa anomera.
2. Pashure ovariectomy basa substitutive kurapwa pamwe hormone nevamiririri. Izvi zvinobatsira kuti pave yechipiri dzepabonde zvatariswa.
3. Kana dumbu zvakanaka yakatanga, pane mukana nepamuviri uye mwana akasimba (pamuviri kunoitika somugumisiro ezvokunambira kunze kwomuviri waamai muchangosangana).

The chirwere anofanira kusiyaniswa kubva yakafanana chirwere nezita Svayera-James-Tarambiwa. ezvinhu ichi, uyewo zvakafanana kuratidzwa lymphangioleiomyomatosis, mumwe zvokurwara kukanganisa zvemapapu tishu. Xy gonadal dysgenesis uye lymphangioleiomyomatosis - zvirwere zvakasiyana.