XY dysgenesis gonadal: iimpawu zesi sifo yaye nonyango iinketho

XY dysgenesis gonadal - ukuba kakhulu sisifo enqabileyo awazalwa enaso, uphuhliso okuyingxenye kukwaphula lwesakhiwo Y-chromosome (sithetha ukungabikho isakhi ethile wezakhi yodwa).

Ezibangela isifo

Ngokuqhelekileyo, unobangela ngokukhawuleza esi sifo kuguquka ingongoma isakhi ethile, ibekwe kwingalo elifutshane Y-chromosome, okanye ilahleko iyonke sofuzo. Le chromosome linoxanduva protein amagama, ukuthatha inxaxheba besini kuphuhliso umbungu uhlobo eyindoda. Ngenxa yoko, kuba imiphumo hormone ngesondo inkunzi engekho, umbungu inketho enye kuphela - ukwenza uhlobo ababhinqileyo. Ngenxa yoko, umntwana ongekazalwa phenotype libhinqile karyotype "XY".

Pathogenesis

Yemfuza okanye ukungabi SRY gene kukhokelela iyantlukwano eziphosakeleyo iiseli Sertoli, kwaye ngenxa yoko, ukuba maldevelopment le tubules seminiferous.

Ngenxa yoko, nangona 'yindoda' i XY karyotype, esini yosana olungekazalwa akhiwa, wayibeka phezu uhlobo ababhinqileyo.

kubonakaliswa clinical

Ide kuqaleka kwemiqondiso lokufikisa Svayera syndrome ubuhle phantse ingachazwayo. Kwaba kuphela njengoko bekhula amantombazana abadala baqala ukubonisa iimpawu ezithile:

• Ukunqongophala noboya obuninzi emzimbeni kunye indawo ikhwapha ye esini lwangaphandle.
• Ezingonelanga, uphuhliso abaziintsizana amadlala mammary.
• Namaqondo awohlukeneyo hypoplasia, lo infantilism esibelekweni.
• hypoplasia kusisi (azixhaphakanga).
• Mandicothoze sho iimpawu eziziisekondari ngesondo - "evnuhopodobny" okanye uhlobo umzimba intersexual.
• Hypotrophy okanye yoma na isifo ye zangasese.
• Hypoplasia le esini lwangaphandle (kwiLibia kunye ikhozo).
• infantilism ezikumalungu okuzala.
• Kwezinye iimeko kukho ukukhula ngokugqithisileyo umzimba esebenzayo kunye zayo: emhlathini asezantsi, ibhanti ngamagxa (ebangela emagxeni iphangalele ukusekwa) kwezihlunu.
• Lokufikisa emantombazaneni kunye syndrome Svayera nzima ngenxa yokunqongophala estrogen emizimbeni yabo.
• Gcwalisa inzalo.

ekuxilongweni

Kwiimeko ezininzi isifo eso eneminyaka engama-15-16, ngexesha lokufikisa, xa kucaca ukuba isigulana iye sasingachazwa neempawu zesini eziziisekondari.

Ngelo xesha, abafazi kufuneka kuguquka, ukufikelela kwesi sigaba aqalile ukuba sibhenele ugqirha kunye nezikhalazo yokulibaziseka xa uqala ukuba sexesheni.

Maxa wambi uxilongo lwenziwa ngenxa dysplasia kunye yobubi gonads ngokwaneleyo.

Lokufunyaniswa "XY dysgenesis gonadal" isekelwe phezu zinto zilandelayo:

• iimviwo yesigulana.
• loviwo ultrasound.
• Hysterosalpingography.

Noko ke, nasekuziqiniseni kwam iindaba uphethwe kunokwenzeka kuphela ngokusebenzisa ukufunda chromatin ngesondo, leyo ibhaqa phambi karyotype eyindoda kunye phenotype ababhinqileyo.

Iinketho unyango

Unyango lwe syndrome Svayera wenziwe kumacala eziliqela.

1. Ubukhulu becala wavelisa spaying - ngenxa amathuba aphezulu ukuguquka yabo ngamathumba amabi.
2. Emva ovariectomy eyabelwe unyango substitutive kunye arhente hormone. Oku kunegalelo kuphuhliso neempawu zesini eziziisekondari.
3. Xa kuphuhliswa kakuhle isibeleko, kukho amathuba okokuba ukhulelwe kwaye umntwana onempilo (kwenzeka ukukhulelwa ngenxa neqanda).

Isifo kufuneka ahluka ukusuka syndrome efanayo ngegama Svayera-Yakobi-Macleod. Le meko, kwakunye efanayo obubonakala lymphangioleiomyomatosis, a ngezifo echaphazela ijwabu semiphunga. XY dysgenesis gonadal kunye lymphangioleiomyomatosis - izifo ezahlukeneyo.