XY gonadal dysgenesis: lintlha tsa dikgetho lefu le kalafo

XY gonadal dysgenesis - ho haholo e sa tloaelehang congenital lefu, ntshetsopele ya eo ke karolo tlōlo ea mohaho Y-chromosome (re bua ka ho ba sieo ha ka phatsa ea lefutso e itseng kapa phetoho liphatseng tsa lefutso tsa ho itšehla thajana).

Lisosa tsa lefu lena

Ka tloaelo ho, sesosa hang-hang ya lefu lena ke ntlha phetoho liphatseng tsa lefutso tsa lefutso tse itseng, teng ka e khutšoanyane letsoho tsa Y-chromosome, kapa ho lahleheloa ke kakaretso ea phatsa ea lefutso e. chromosome Sena ke le boikarabelo ba ho tswakana protheine, ho nka karolo ea ho kopanela liphate ba embryo ntshetsopeleng ya mofuta motona. Ka lebaka leo, hobane liphello tsa hormone ho kopanela liphate e motona e le sieo, ho lesea ke khetho e 'ngoe feela - ya ho theha mofuta motšehali. Ka lebaka leo, ngoana e-s'o tsoaloe e na le phenotype motšehali le karyotype "XY".

pathogenesis

Liphetoho liphatseng tsa lefutso kapa ba sieo ha SRY phatsa ea lefutso e isa fosahetseng khethollo ea lisele tse Sertoli, le ka lebaka leo, ho maldevelopment tsa tubules seminiferous.

Ka lebaka leo, ho sa tsotellehe ya "masculine" ho XY karyotype, litho tsa thobalano tsa lesea li thehoa 'me a rala ho mofuta o le e motšehali.

liponahatso tsa tleleniki

Ho fihlela e le qalo ea matšoao kena bonneng kapa bosaling Svayera syndrome, sheba hoo e ka bang ke ke a bua. E ne e le feela ha ba ntse ba hōla banana ba baholoanyane ba se ba qala ho bontša litšobotsi tse itseng:

• Ho haella ha moriri 'meleng le mahafing sebakeng sa genitalia kantle.
• Sa tšoanelehe, mafutsana ntshetsopeleng ya litsoelesa le mammary.
• A sa tšoaneng likhato tsa hypoplasia, ho popelo infantilism.
• Bosaling hypoplasia (ka tlaase ho moo li neng li atile).
• Bonolo phatlalatsa mahareng litšobotsi tse thobalano - "evnuhopodobny" kapa intersexual mofuta mele.
• Hypotrophy kapa felloa ke matla ha mucosa a feditsweng.
• Hypoplasia tsa genitalia Link (labia le clitoris).
• Genital infantilism.
• Maemong a mang ho na le keketseho e bileng teng ka tsela e feteletseng ea 'mele oa motho ea mafolofolo le likarolo tsa lona: mohlahareng tlaase, lebanta mahetla (ea fella ka hore ho thehoe mahetleng sephara) mesifa.
• Qala ho ea kena bonneng kapa bosaling ho banana ba le lefu Svayera khonehe ka lebaka la ho haella ha estrogen bananeng ka 'mele ea bona.
• Complete nyopa.

tlhathoba

Maemong a mangata ke lefu e fumanoa a le lilemo li dilemo 15-16, nakong kena bonneng kapa bosaling, ha eba ho hlakile hore mamello ha e bitsoa mahareng litšobotsi tse thobalano.

Ka nako e tšoanang, basali ba nang le phetoho liphatseng tsa lefutso, e fihla mehleng ena ba qala ho retelehela gynecologist le ditletlebo lieha ho qala ho ea khoeling.

Ka linako tse ling phumano e etsoa ka lebaka la dysplasia le malignancy gonads underdeveloped.

The phumano ya "XY gonadal dysgenesis" e itšetlehile ka lintho tse latelang:

• ho hlahloba ka 'meleng oa mokuli.
• Ultrasound maemong hlahloba.
• Hysterosalpingography.

Leha ho le joalo, netefatso ya tepelletse maikutlong ke khoneha feela ka ho ithuta ka ho kopanela liphate chromatin, eo e iphumanela ho ba teng ha karyotype motona le e phenotype motšehali.

Options kalafo

Kalafo ea lefu la Svayera etsoa litaelo tse 'maloa.

1. Haholo-holo hlahiswa spaying - ka lebaka la ho kgonego tse phahameng tsa ho sokoloha ha bona ka lihlahala tse kotsi.
2. Mora ovariectomy abeloa kalafo substitutive le mahlahana hormonal. Sena se etsa hore tsoelo-pele ea litšobotsi tse mahareng ho kopanela liphate.
3. Ha popelo e hantle ntshetswa pele, ho na le monyetla oa ho ima le lesea le phetseng hantle (ho ima le hlaha ka lebaka la ho vitro manyolo).

Lefu lena le e lokela ho ba hlaheletseng tswa lefu tšoanang ka lebitso Svayera-Jakobo-Macleod. boemo ena, hammoho le ka tsela e tšoanang liponahatso lymphangioleiomyomatosis, ka bolwetse amang matšoafo dinama tse nyenyane tse. XY gonadal dysgenesis le lymphangioleiomyomatosis - mafu a fapaneng.