XY dysgenesis gonadal: izici ongakhetha weni nasekwelapheni tifo

XY dysgenesis gonadal - sekuyinto isifo ezingavamile azalwa naso, ukuthuthukiswa zazo esingadala ukwephulwa isakhiwo Y-chromosome (sikhuluma ukungabi khona isakhi ethize noma ngokuguqula izakhi todvwa).

Izimbangela zesifo

Ngokuvamile, imbangela ngokushesha lesi sifo kuyisimo kuguquka iphuzu isakhi esithile, ise ingalo esifushane Y-chromosome, noma ukulahlekelwa ingqikithi isakhi sofuzo. Lokhu-chromosome unesibopho amaprotheni zamagama, ngekubamba lichaza bobulili we ukuthuthukiswa nombungu uhlobo besilisa. Ngenxa yalokho, ngoba imiphumela wobulili i-hormone wesilisa engekho, nayo fetus impendulo eyodwa vo - ukwakha uhlobo besifazane. Ngenxa yalokho, umntwana ongakazalwa has a phenotype insikazi karyotype "XY".

pathogenesis

Ukuguqula izakhi zofuzo noma ukungabi khona SRY isakhi sofuzo kuholela kwamangqamuzana okuyiphutha Sertoli amaseli, futhi ngenxa yalokho, ukuze maldevelopment we tubules seminiferous.

Ngenxa yalokho, ngaphakathi spite of "wesilisa" le XY karyotype, izitho zobulili umbungu akhiwa wathelisa uhlobo besifazane.

ukubonakaliswa emitholampilo

Kuze sezibonakaliso ukuthomba Svayera syndrome kubukeka cishe neze. Kwaba njengoba zikhula amantombazane amadala baqala ukubonisa izici ezithile:

• Ukuntuleka kokukhulumisana umzimba izinwele futhi endaweni underarm we zangasese zangaphandle.
• Imphumelelo, ukuthuthukiswa abampofu nezindlala mammary.
• Ukushintshashintsha lamadigri hypoplasia, le infantilism kwesibeletho.
• hypoplasia kwesitho sangasese (bungavami).
• Softly liphinyiselwe izici yesibili ngokocansi - "evnuhopodobny" noma intersexual uhlobo umzimba.
• Hypotrophy noma yoma we mucosa we umthondo.
• Hypoplasia we zangasese yangaphandle (labia futhi clitoris).
• infantilism zangasese.
• Kwezinye izimo kukhona ukukhula ngokweqile emzimbeni asebenzayo futhi zayo: umhlathi ongezansi, ibhande ehlombe (okuphumela ekwakhiweni emahlombe ebanzi) kwemisipha.
• Ukuqala ukuthomba emantombazaneni sifo Svayera engenakwenzeka ngenxa yokungabi bikho estrogen emizimbeni yabo.
• Qedela inzalo.

ukuhlola

Ezimweni eziningi lesi sifo sitholakale umuntu lapho eneminyaka engu-eminyakeni 15-16, phakathi nenkathi yokuthomba, lapho kuba sobala ukuthi isiguli ayizange liphinyiselwe izici ngokobulili yesibili.

Ngesikhathi esifanayo, abesifazane abane-kuguquka, ukufinyelela kulonyaka sebeqala ngiphendukele wezifo zabesifazane izikhalo ukubambezeleka ukuqala kokuya esikhathini.

Ngezinye izikhathi uphethwe wenziwa ngenxa dysplasia futhi umdlavuza gonads ampofu.

Sitholakele "XY dysgenesis gonadal" isekelwe izici ezilandelayo:

• behlolwa isiguli.
• Ultrasound luhlolo.
• Hysterosalpingography.

Nokho, isiqinisekiso uphethwe kungenzeka kuphela esebenzisa ekutadisheni ubulili chromatin, okuyinto kuthola ebukhoneni karyotype besilisa nge phenotype zesifazane.

Izinketho ukwelashwa

Ukwelashwa yalesi sifo Svayera kwenziwe tinkhombandlela eziningana.

1. Ngokuyinhloko ekhiqizwa spaying - ngenxa awokuthi bokuguquka kwawo ku izimila ebulalayo.
2. Ngemva ovariectomy babelwe ukwelashwa substitutive nabenzeli hormone. Lokhu kunomthelela ukuthuthukiswa izici ngokobulili yesibili.
3. Lapho kwesibeletho iyakhiwa kahle, kukhona kungenzeka ekhulelwe kanti nengane enempilo (sokukhulelwa kwenzeka ngenxa kwesibeletho fertilization).

Lesi sifo kufanele kube kuhlukaniswe a syndrome efanayo ngegama Svayera-James-MacLeod. Lesi simo, kanye efanayo ukubonakaliswa lymphangioleiomyomatosis, a zokugula ezithinta nezicubu wamaphaphu. XY dysgenesis gonadal futhi lymphangioleiomyomatosis - izifo ezahlukene.