XY gonadal dysgenesis: atụmatụ nke ọrịa na ọgwụgwọ nhọrọ

XY gonadal dysgenesis - ọ bụ ezi a obere congenital ọrịa, mmepe nke nke kasị a mebiri nke Y-chromosome Ọdịdị (na anyị na-ekwu okwu banyere na-anọghị nke a kpọmkwem site n'usoro ma ọ bụ mutation of iche).

Na-akpata ọrịa

A, ozugbo akpata ọrịa a bụ a mgbe mutation nke a ụfọdụ site n'usoro, emi odude ke obere ogwe aka nke ndị Y-chromosome, ma ọ bụ ngụkọta ọnwụ nke mkpụrụ ndụ ihe nketa. Nke a chromosome bụ maka protein njikọ, na-ewere akụkụ dị na mmekọahụ nke ẹmbrayo na mmepe nke nwoke ụdị. N'ihi ya, n'ihi na mmetụta nke nwoke mmekọahụ hormone anọghị ya, nwa ebu n'afọ bụ nanị otu nhọrọ - etolite nne ụdị. N'ihi ya, nwa e bu n'afọ nwere a nwanyi phenotype na karyotype "XY".

pathogenesis

Mmụba ma ọ bụ enweghị SRY site n'usoro na-eduga ná ezighị ezi iche Sertoli mkpụrụ ndụ, na dị ka a na ya pụta, ka maldevelopment nke seminiferous tubules.

N'ihi ya, n'agbanyeghị na nke "oke" ndị XY karyotype, mmekọahụ na akụkụ nke nwa ebu n'afọ na-guzobere, tukwasi ya nwanyi ụdị.

adakarị ngosipụta

Ruo mgbe mmalite nke pubati ịrịba ama Svayera syndrome ọdịdị fọrọ nke nta na-egosipụta. Ọ bụ nanị ka ha na-eto ụmụ agbọghọ na-amalite-egosi ụfọdụ e ji mara:

• Enweghị ajị ahụ underarm ebe nke mpụga genitalia.
• Erughị eru, ogbenye mmepe nke mammary glands.
• Mgbanwe degrees nke hypoplasia, akpanwa infantilism.
• Mmamiri hypoplasia (obere nkịtị).
• Nwayọ akpọ sekọndrị mmekọahụ e ji mara - "evnuhopodobny" ma ọ bụ intersexual ahụ ụdị.
• Hypotrophy ma ọ bụ atrophy nke mucosa nke kenwe.
• Hypoplasia nke mpụga genitalia (labia na nwanyi ji anyu mmamiri).
• Genital infantilism.
• Mgbe ụfọdụ e nwere oké ibu nke nọ n'ọrụ na ahu na ya akụkụ: ala agha, n'ubu belt (na-eduga n'iguzobe sara n'ubu) muscle.
• Mmalite nke pubati na ụmụ agbọghọ na syndrome Svayera-agaghị ekwe omume n'ihi na enweghị nke estrogen na ha.
• Complete Vol.

nchọpụta nsogbu

Ọtụtụ mgbe ọrịa na-chọpụtara na afọ 15-16 afọ, n'oge ah u, mgbe ọ na-aghọ doro anya na ndidi na-akpọ nke abụọ mmekọahụ mara.

N'otu oge ahụ, ndị inyom ndị nwere a mutation, na-eru a na afọ na-amalite na-atụgharị nke ọkachamara n'ọrịa ụmụ nwanyị na mkpesa nke na-egbu oge na mmalite nke oge ịhụ nsọ nwaanyị.

Mgbe ụfọdụ, ihe nchoputa a rụrụ dị ka a n'ihi nke dysplasia na malignancy underdeveloped gonads.

The nchoputa nke "XY gonadal dysgenesis" dabeere na ndị na-esonụ ihe:

• Physical nyochaa onye ọrịa.
• Ultrasound nyochaa.
• Hysterosalpingography.

Otú ọ dị, nkwenye nke nchoputa-ekwe omume nanị site n'ọmụmụ mmekọahụ chromatin, nke na-achọpụta rụọ ọnụnọ nke nwoke karyotype na a nwanyi phenotype.

ọgwụgwọ Nhọrọ

Ọgwụgwọ nke syndrome Svayera rụrụ na ọtụtụ ntụziaka.

1. N'ụzọ bụ isi na-emepụta spaying - ruru akwa puru nke ha cheghariri n'ime ajọ etuto ahụ.
2. Mgbe ovariectomy kenyere substitutive ọgwụgwọ na mmiri ọgwụ mmadụ. Nke a na-eme ka mmepe nke abụọ mmekọahụ mara.
3. Mgbe akpanwa na-ọma mepụtara, e nwere a-ekwe omume nke ime na a ike na nwa (afọ ime emee ka a N'ihi nke na vitro njikọta spam).

The ọrịa ga-akwanyere ùgwù si a yiri syndrome site aha Svayera-James-Macleod. Nke a ọnọdụ, nakwa dị ka yiri na ngosipụta lymphangioleiomyomatosis, a daa ọrịa na-emetụta ndị akpa ume anụ ahụ. XY gonadal dysgenesis na lymphangioleiomyomatosis - dị iche iche ọrịa.