Swyer's syndrome yog ib yam kab mob uas tsis tshua muaj tshwm sim, qhov kev loj hlob ntawm uas qhia tau hais tias ua txhaum ntawm cov qauv ntawm y chromosome (peb tab tom tham txog qhov tsis muaj qee cov noob los yog nws cov kev hloov pauv).
Kev txhim kho kab mob
Raws li txoj cai, qhov ncaj qha ua rau tus kab mob no yog qhov hloov pauv ntawm qee cov noob nyob rau hauv caj npab luv ntawm Y chromosome, lossis ua tiav cov noob no. Ntu no ntawm cov chromosome yog lub luag haujlwm rau kev sib txuas ntawm cov protein uas koom nrog hauv kev loj hlob ntawm kev sib deev ntawm embryo raws li txiv neej hom. Yog li ntawd, txij li thaum tsis muaj kev cuam tshuam ntawm txiv neej cov tshuaj hormones, tsuas yog kev xaiv tseg rau tus menyuam hauv plab yog tsim raws li poj niam hom. Raws li qhov tshwm sim, tus menyuam yug los muaj tus poj niam phenotype nrog "XY" karyotype.
Pathogenesis
Kev hloov lossis tsis muaj SRY noob ua rau tsis ua haujlwm ntawm kev sib txawv ntawm Sertoli hlwb, thiab, vim li ntawd, mus rau kev txhim kho ntawm cov tubules seminiferous.
Vim li ntawd, txawm tias "txiv neej" XY karyotype, qhov chaw mos ntawm tus menyuam hauv plab tau nteg thiab tsim raws li hom poj niam.
Kev kho mob tshwm sim
Txog qhov pib ntawm kev puberty, cov cim qhia ntawm Swyer's syndrome sab nraudxyaum tsis qhia. Thiab tsuas yog thaum cov ntxhais loj hlob tuaj, qee yam nta pib tshwm:
- Tsis muaj plaub hau kev loj hlob nyob rau hauv armpits thiab sab nraud genitals.
- Kev tsis txaus, kev loj hlob tsis zoo ntawm cov qog mammary.
- Ntau qib ntawm kev txhim kho tsis zoo, uterine infantilism.
- Vaginal hypoplasia (tsawg dua).
- Cov yam ntxwv sib deev me me - "zoo li eunuch" lossis hom kev sib deev lub cev.
- Hypotrophy lossis atrophy ntawm mucous daim nyias nyias ntawm qhov chaw mos.
- Kev txhim kho ntawm lub genitalia sab nraud (labia thiab clitoris).
- Ntsuag me nyuam mos.
- Qee zaum, muaj kev loj hlob ntau dhau ntawm lub cev thiab nws tus kheej qhov chaw: lub puab tsaig sab hauv, lub xub pwg nyom (ua rau tsim ntawm lub xub pwg dav), cov leeg nqaij.
- Qhov pib ntawm kev puberty rau cov ntxhais nrog Swyer's syndrome yog ua tsis tau vim tsis muaj tshuaj estrogen hauv lawv lub cev.
- ua kom tsis muaj menyuam.
Diagnosis
Feem ntau, tus kab mob no tau kuaj pom thaum muaj hnub nyoog 15-16 xyoo, thaum lub sijhawm puberty, thaum nws pom tseeb tias tus neeg mob tsis muaj tus cwj pwm sib deev thib ob.
Tam sim no, cov ntxhais nrog qhov kev hloov pauv no, tau mus txog hnub nyoog no, pib tig mus rau gynecologist nrog kev tsis txaus siab ntawm kev coj khaub ncaws qeeb.
Qee zaum qhov kev kuaj mob tau ua tiav los ntawm dysplasia thiab malignancy ntawm underdeveloped gonads.
Kev kuaj mob ntawm Swyer's Syndromeraws li cov hauv qab no:
- kuaj lub cev ntawm tus neeg mob.
- kuaj ultrasound.
- YHysterosalpingography.
Txawm li cas los xij, kev lees paub ntawm kev kuaj mob tsuas yog ua tau nrog kev pab los ntawm kev tshawb fawb ntawm kev sib deev chromatin, uas qhia pom muaj tus txiv neej karyotype hauv poj niam phenotype.
xaiv kev kho mob
Swyer's syndrome tau kho ntau txoj hauv kev.
- Ua ntej tshaj plaws, lub zes qe menyuam raug tshem tawm - vim qhov muaj feem ntau ntawm lawv hloov mus rau cov qog nqaij hlav.
- Tom qab oophorectomy, kev kho tshuaj hormone hloov tau raug sau tseg. Qhov no txhawb txoj kev loj hlob ntawm kev sib deev yam ntxwv thib ob.
- Thaum lub tsev menyuam loj hlob txaus, nws muaj peev xwm dais thiab yug tau tus menyuam noj qab nyob zoo (kev xeeb tub tshwm sim los ntawm kev yug menyuam hauv vitro).
Tus kab mob no yuav tsum txawv ntawm lub npe zoo sib xws Swyer-James-McLeod syndrome. Cov mob no, zoo li lymphangioleiomyomatosis, zoo ib yam li tshwm sim, yog ib qho pathology uas cuam tshuam rau lub ntsws. Swyer's syndrome thiab lymphangioleiomyomatosis yog cov kab mob sib txawv.
