XY gonadal dysgenesis: nta ntawm tus kab mob thiab kev kho mob

XY gonadal dysgenesis - nws yog ib tug heev tsawg congenital kab mob, txoj kev loj hlob ntawm cov uas yuav muab ib tug ua txhaum ntawm lub Y-chromosome qauv (peb yuav sib tham txog hauv lub qhaj ntawv ntawm ib lub noob los yog hloov ntawm kev rho tawm).

Cov ua rau tus kab mob

Feem ntau, cov tam sim ntawd ua tus kab mob no yog ib tug taw tes hloov ntawm ib tug tej noob, nyob rau hauv lub luv luv caj npab ntawm lub Y-chromosome, los yog tag nrho poob ntawm noob. Qhov no chromosome yog lub luag hauj lwm rau cov protein ntau synthesis, noj ib feem nyob rau hauv tus txiv neej pw ntawm lub embryo txoj kev loj hlob ntawm cov txiv neej hom. Raws li ib tug tshwm sim, vim hais tias cov teebmeem ntawm tus txiv neej nrog txiv neej pw lawm tsis tuaj kawm ntawv, cov me nyuam hauv plab yog tsuas yog ib qhov kev xaiv - mus rau tus poj niam hom. Raws li ib tug tshwm sim, lub me nyuam hauv plab muaj ib tug poj niam phenotype nrog karyotype "XY".

pathogenesis

Change los yog tsis tuaj kawm ntawv ntawm SRY noob ua rau faulty ntau yam Sertoli hlwb, thiab raws li ib tug tsim nyog tau, rau maldevelopment ntawm lub seminiferous tubules.

Raws li ib tug tshwm sim, nyob rau hauv kev phem ntawm lub "txiv neej" tus XY karyotype, kev sib deev hauv nruab nrog cev ntawm lub fetus yog tsim thiab pw rau tus poj niam hom.

soj ntsuam ces

Kom txog rau thaum pib ntawm tiav nkauj tiav nraug cim Svayera syndrome zoo yuav luag tsis qhia. Nws yog tsuas yog raws li lawv loj hlob laus cov ntxhais pib qhia tej yam ntxwv:

• Tsis muaj lub cev plaub hau thiab underarm cheeb tsam ntawm cov sab nraud genitalia.
• Txaus, cov neeg pluag kev loj hlob ntawm lub mammary qog.
• Zaubmov hypoplasia, lub tsev menyuam infantilism.
• Paum hypoplasia (tsis tshua muaj heev).
• Lub suab mos muag hais theem nrab kev sib deev yam ntxwv - "evnuhopodobny" los yog intersexual lub cev ntaus.
• Hypotrophy los yog Atrophy ntawm lub mucosa ntawm lub genitals.
• Hypoplasia ntawm cov sab nraud genitalia (labia thiab ple).
• Qhov chaw mos infantilism.
• Nyob rau hauv tej rooj plaub muaj yog ntau txoj kev loj hlob ntawm lub active lub cev thiab nws qhov chaw: lub sab lub puab tsaig, lub lub xub pwg siv (ua nyob rau hauv lub tsim sab xub pwg nyom) nqaij.
• Qhov pib ntawm tiav nkauj tiav nraug nyob rau hauv cov ntxhais nrog rau cov syndrome Svayera tsis yooj yim sua vim lub tsis muaj cov tshuaj no nyob rau hauv lawv lub cev.
• Sau kom tiav sterility.

diagnostics

Nyob rau hauv feem ntau tus neeg mob tus kab mob no thiaj paub tias yog nyob rau lub hnub nyoog ntawm 15-16 xyoo, thaum lub sij hawm tiav nkauj tiav nraug, thaum nws yuav paub tseeb hais tias tus neeg mob tsis tau cov lus hais theem nrab kev sib deev yam ntxwv.

Nyob rau tib lub sij hawm, cov poj niam uas muaj ib tug hloov, kho kom sawvdaws xeeb no muaj hnub nyoog yog pib tig los rau tus gynecologist kev tsis txaus siab ntawm kev ncua nyob rau hauv lub qhov pib ntawm poj niam.

Tej zaum tus mob yog nqa tawm raws li ib tug tshwm sim ntawm dysplasia thiab malignancy underdeveloped gonads.

Tus kab mob ntawm "XY gonadal dysgenesis" yog raws li nyob rau hauv cov nram qab no yam:

• Lub cev kev soj ntsuam ntawm tus neeg mob.
• Ultrasound xeem.
• Hysterosalpingography.

Txawm li cas los, kev pom zoo ntawm tus mob no tau tsuas los ntawm txoj kev kawm txog cov kev pw ua ke chromatin, uas detects cov xub ntiag ntawm cov txiv neej karyotype nrog ib tug poj niam phenotype.

kev kho mob Options

Kev kho mob ntawm lub syndrome Svayera nqa tawm nyob rau hauv ob peb cov lus qhia.

1. Feem ntau ua spaying - vim lub siab yuav qhov muaj tseeb ntawm lawv hloov dua siab tshiab rau hauv phem hlav.
2. Tom qab ovariectomy muab substitutive kev kho mob nrog hormonal agents. Qhov no muaj txhawb rau txoj kev loj hlob ntawm ob kev sib deev yam ntxwv.
3. Thaum lub tsev menyuam yog zoo tsim, muaj ib tug tau ntawm cev xeeb tub thiab ib tug noj qab nyob zoo tus me nyuam (uas cev xeeb tub tshwm sim raws li ib tug tshwm sim ntawm nyob rau hauv vitro fertilization).

Tus kab mob yuav tsum distinguished los ntawm ib tug uas zoo sib xws syndrome los ntawm lub npe Svayera-James-MacLeod. Qhov no mob, raws li tau zoo raws li nyob rau hauv uas zoo sib xws ces lymphangioleiomyomatosis, ib tug pathology rau lub ntsws cov ntaub so ntswg. XY gonadal dysgenesis thiab lymphangioleiomyomatosis - sib txawv cov kab mob.