XY gonadal dysgenesis: siffofin da cutar da kuma magani zažužžukan

XY gonadal dysgenesis - yana da quite a rare nakasar cuta, da ci gaban da ya ƙunshi wani take hakkin da Y-chromosome tsarin (muna magana ne game da babu wani takamaiman gene ko maye gurbi na kadaici).

A Sanadin cutar

Yawanci, nan da nan dalili da wannan cuta ne wani batu maye gurbi na wani gene, dake a cikin gajeren hannu na Y-chromosome, ko total asarar da gene. Wannan chromosome ne ke da alhakin gina jiki kira, da shan kashi a cikin jima'i amfrayo ci gaban namiji type. A sakamakon haka, saboda sakamakon da ɗa namiji hormone ne ba ya nan, da tayin daya ne kawai zabin - samar da mace irin. A sakamakon haka, da ba a haifa ba yana da mace phenotype da karyotype "XY".

pathogenesis

Maye gurbi, ko babu SRY gene take kaiwa zuwa karkatattun bambantawa Sertoli Kwayoyin, da kuma yadda wani sakamako, to maldevelopment na seminiferous tubules.

A sakamakon haka, duk da "namiji" da XY karyotype, jima'i gabobin da tayin suna kafa da kuma aza a kan mace irin.

asibiti manifestations

Har farkon balaga ãyõyi Svayera ciwo ya dubi kusan ba ya nuna. Shi ne kawai kamar yadda suke girma mazan 'yan mata za a fara nuna wasu halaye:

• Rashin jiki gashi kuma underarm yankin na waje genitalia.
• Rashin isassun, matalauta ci gaban da mammary gland.
• Sãɓãwar launukansa digiri na hypoplasia, ya zauna cikin mahaifa infantilism.
• Farji hypoplasia (ƙasa da na kowa).
• Tãna tãshi da sauƙi furta sakandare jima'i halaye - "evnuhopodobny" ko intersexual jiki irin.
• Hypotrophy ko atrophy na mucosa na al'aurar.
• Hypoplasia na waje genitalia (labia da shasshafa dan tsakar ta).
• Al'aura infantilism.
• A wasu lokuta akwai wuce kima girma na aiki jiki da sassansa: ƙananan muƙamuƙi, kafada bel (sakamakon samuwar m kafadu) tsoka.
• Farko na balaga a 'yan mata da ciwo Svayera ba zai yiwu ba saboda da rashin estrogen a jikinsu.
• Complete sterility.

bincikowa da

A mafi yawan lokuta da cutar da aka gano cutar a cikin shekaru 15-16 shekaru, a lokacin balaga, lokacin da ya bayyana cewa haƙuri bai furta sakandare jima'i halaye.

A lokaci guda, matan da suka yi a maye gurbi, kai wannan shekaru fara juya ga likitan mata da koke-koken da bata lokaci ba, a farko na haila.

Wani lokaci da ganewar asali ne da za'ayi a sakamakon dysplasia da malignancy underdeveloped gonads.

A ganewar asali da "XY gonadal dysgenesis" dogara ne a kan wadannan dalilai:

• Jiki jarrabawa na haƙuri.
• Duban jarrabawa.
• Hysterosalpingography.

Duk da haka, tabbatar da ganewar asali ne zai yiwu ne kawai ta hanyar nazarin jima'i chromatin, wanda detects gaban namiji karyotype da mace phenotype.

magani Zabuka

Jiyya na ciwo Svayera za'ayi a inda da dama.

1. Da farko samar spaying - saboda da high yiwuwa na hira cikin m siffofin maruran.
2. Bayan ovariectomy sanya substitutive magani tare da hormonal jamiái. Wannan na taimaka wa ci gaban da sakandare jima'i halaye.
3. Lokacin da ya zauna cikin mahaifa ne da ci gaba, akwai yiwuwar daukar ciki, kuma mai lafiya baby (ciki na faruwa a sakamakon a vitro hadi).

Cutar dole rarrabe daga wani irin ciwo da sunan Svayera-James-MacLeod. Wannan yanayin, kazalika da irin wannan a cikin manifestations lymphangioleiomyomatosis, a Pathology shafi cikin huhu nama. XY gonadal dysgenesis da lymphangioleiomyomatosis - daban-daban cututtuka.