XY gonadal dysgenesis: hiʻona o ka maʻi a me ka lapaʻau nā koho

XY gonadal dysgenesis - ia Aloha nō pohihihi keia congenital maʻi, i ka ulu ana o ka i kūpono ai ka 'aʻe' ana o ka Y-chromosome 'ole (mākou e kamaʻilio e pili ana i ka wa e kaawale aku o kekahi mau''ōewe a mutation o ka hoʻokaʻawale).

Nā kumu o ka maʻi

Nō kāu, i ke kumu koke o keia maʻi mea he wahi mutation o ka kekahi'ōewe, Aia i loko o ka pōkole lima o ka Y-chromosome, a me huina lilo o ka'ōewe. Kēia chromosome He kuleana no ka kumuʻiʻo hoʻololi kemikala, e lawe ana kekahi i loko o ka wahine o ka embryo? Acaeoey o kāne type. E like me ka hopena, no ka mea, o ka ona o ka kane anal hōmona mea ma kahi'ē, ka fetus mea hoʻokahi wale nō hōʻoia - e hana i ka wahine type. E like me ka hopena, i ka unborn keiki he wahine phenotype me ka karyotype "XY".

pathogenesis

Mutations a hele o SRY'ōewe hiki aku ai i ka hewa lā differentiation Sertoli keena, a me kaʻilihune, e maldevelopment o ka seminiferous tubules.

E like me ka hopena, ma naʻe o ka "käne" ka XY karyotype, e hana 'īnea i nā loko o ka fetus, a kau ma luna o ka wahine type.

lapaʻau hoike ana

A hiki i ka hoʻomaka o ka puberty hoailona Svayera maʻi pale Looks aneane i hoikeia. Ua ua wale i ko lakou ulu ana mua kaikamāhine hoʻomaka e hōʻike i kekahi mau 'ano:

• Ka nele o ke kino a me ka lauoho underarm wahi o ka mawaho genitalia.
• Lawa ponoʻole, ilihune kūpono 'ana o ka mammary glands.
• E loli iki degere o hypoplasia, ka uterus infantilism.
• Vaginal hypoplasia (emi mai, he pono ole).
• Mai haʻi kiʻekiʻe 'īnea i ano - "evnuhopodobny" a intersexual kino type.
• Hypotrophy a atrophy o ka mucosa o na wahine.
• Hypoplasia o ka mea mawaho genitalia (labia a me ka clitoris).
• Wahine infantilism.
• I kekahi manawa, he mea excessive ulu o kaʻeleu kino a me kona māhele:ʻo lalo ā, i ka'ūhā mua kāʻei (kūpono ai i loko o ke kahua ākea poʻohiwi) Muscle.
• Ka hoouka kaua o ka puberty ma kaikamahine i ka maʻi pale Svayera hiki ole no i ka nele o ka estrogen i loko o ko lākou mau kino.
• Piha sterility.

lapaʻau '

Ma ka hapanui o na hihia i ka maʻi ua diagnosed ma ka makahiki o 15-16 makahiki, i puberty, ka wā e lilo ia i ike i ka hoʻomanawanui iʻaʻole nō i nā haumāna 'īnea i ano.

I ka Ia manawa, na wahine, ka poe i ka mutation, hiki keia makahiki e hoomaka ana e huli i ka gynecologist me ka hoopii o kali hou aku; i loko o ka hoouka kaua o ka menstruation.

I kekahi manawa, ai kaʻike, ua lawe mai ia i ka hopena o ka dysplasia a me ka malignancy underdeveloped gonads.

I kaʻike, o "XY gonadal dysgenesis" ua muli ma ka penei aʻe:

• Helu ninaninau o ka hoʻomanawanui.
• Ultrasound ninaninau.
• Hysterosalpingography.

Eia naʻe, hōʻoiaʻiʻo nō o kaʻike, me ke kūʻokoʻa wale ma ke kumu o ke ao ana o ke keka chromatin, a huai ae i ke alo o ke kane karyotype me ka wahine phenotype.

lapaʻau koho

Lapaau ana i ka maʻi pale Svayera lawe mai i loko o kekahi mau kuhikuhi.

1. Kuhikuhi hua mai la spaying - aie i ka pahiki kiʻekiʻe o ko lakou huli ana i loko o malignant hikoko.
2. Ma hope o ovariectomy ia substitutive lapaʻau me hormonal konohiki. Kēia ka poʻea pau i ke kūpono 'ana o ke kula kiʻekiʻe' īnea i 'ano.
3. I ka wā o ka uterus ua pono ke kino, he mea he manawa kūpono o ka hāpai keiki, a ke ola i ke kamaiki (hāpai keiki ia lŘlŘ like me ka hopena o ia ma lūmaua fertilization).

Ka maʻi pono e kaulana mai ka like maʻi pale ma ka inoa Svayera-James-MacLeod. Keia ano, e like me ka pono me like me ka hoike ana lymphangioleiomyomatosis, he pathology ka heluna o ka akemāmā'aʻaʻa. XY gonadal dysgenesis a me ka lymphangioleiomyomatosis - kekahi mau maʻi.