XY gonadal dysgenesis: mbali ya options matenda ndi mankhwala

XY gonadal dysgenesis - ziri ndithu osowa kobadwa nako matenda, kupanga omwe ndi kuphwanya dongosolo Y-khromozomu (tikulankhula pakalibe losokonekera kapena kusintha la kudzipatula).

Zimayambitsa matenda

Childs, chifukwa atangochimwa matenda ndi mfundo kusintha kwa mbewu zina, yomwe ili lalifupi mkono wa Y-khromozomu, kapena kutayiratu jini lapansi. khromozomu Ichi ndi udindo kaphatikizidwe mapuloteni, kutenga mbali mu kugonana wa mwana wosabadwayo chitukuko cha mtundu wamwamuna. Chifukwa cha zimenezi, chifukwa zotsatira za timadzi chiwalo chachimuna ndi kwina, ndi mwana wosabadwayo njira imodzi yokha - kupanga mtundu wamkazi. Chifukwa cha zimenezi, mwana wosabadwa ali fenotayipi yaikazi ndi karyotype "XY".

pathogenesis

Masinthidwe kapena kusapezeka kwa SRY jini kumabweretsa wolakwika zosiyanasiyana maselo Sertoli, ndipo Motero, kuti maldevelopment wa tubules seminiferous.

Chifukwa cha zimenezi, ngakhale kuti "chachimuna" ndi XY karyotype, ziwalo kugonana mwana wosabadwayo anapanga namsenza mtundu chachikazi.

mawonetseredwe matenda

Mpaka chiyambi cha zizindikiro msinkhu Svayera syndrome Zikuwoneka pafupifupi si anasonyeza. Izo zinali kokha pamene iwo akukula atsikana akulu akulu amayamba kudziwonetsa makhalidwe ena:

• Kupanda tsitsi thupi ndi underarm Malo maliseche kunja.
• Zosakwanira, osauka chitukuko cha zopangitsa za mammary.
• Kusinthasintha madigiri a hypoplasia, chiberekero infantilism.
• Ukazi hypoplasia (zochepa wamba).
• Mofewa kutchulidwa sekondale makhalidwe kugonana - "evnuhopodobny" kapena intersexual mtundu thupi.
• Hypotrophy kapena manja kwa mucosa wa kumaliseche.
• Hypoplasia wa maliseche Link (labia ndi nkongo).
• Maliseche infantilism.
• Nthawi zina kukula kwambiri kwa thupi yogwira ndi ziwalo: nsagwada m'munsi, lamba phewa (chifukwa mu mapangidwe yotakata mapewa) minofu.
• Isanayambike msinkhu atsikana ndi matenda Svayera zosatheka chifukwa chosowa timafunika mu matupi awo.
• Complete sterility.

diagnostics

Nthawi zambiri matenda amawapeza pa zaka 15-16, potha msinkhu, pamene zimaonekeratu kuti odwala osati kutchulidwa sekondale makhalidwe kugonana.

Pa nthawi yomweyo, akazi amene ali ndi kusintha, kufika m'badwo uno ayamba titembenukira kwa gynecologist madandaulo a akuchedwa kuyamba kusamba.

Nthawi zina matenda ikuchitika chifukwa cha dysplasia ndi chotupa chija gonads underdeveloped.

The matenda a "XY gonadal dysgenesis" zachokera zifukwa zotsatirazi:

• Kupenda thupi la wodwalayo.
• Ultrasound bwino.
• Hysterosalpingography.

Komabe, chitsimikiziro cha matenda n'chotheka kudzera mwa kuphunzira kugonana chromatin, amene detects kukhalapo kwa karyotype wamwamuna ndi wamkazi fenotayipi.

chithandizo

Chithandizo cha matendawa Svayera ikuchitika malangizo angapo.

1. Makamaka amapangidwa spaying - chifukwa Mwina mkulu wa kutembenuka mtima kwawo mu zotupa zilonda.
2. Pambuyo ovariectomy anatumizidwa chithandizo substitutive ndi wothandizila m'thupi. Izi zimathandiza kuti chitukuko cha makhalidwe sekondale kugonana.
3. Pamene chiberekero ndi bwino anakamba, pali kuthekera kwa mimba ndi mwana wathanzi (mimba kumachitika chifukwa cha mu m'galasi umuna).

Matendawa ayenera kukhala wosiyana ndi matenda ofanana ndi dzina Svayera Yakobo MacLeod. chikhalidwe ichi, komanso ofanana mu mawonekedwe lymphangioleiomyomatosis, ndi kudwala okhudza mapapo minofu. XY gonadal dysgenesis ndi lymphangioleiomyomatosis - matenda osiyana.