17 beta hidroqsisteroid dehidrogenaza III-is deficiti

17 beta hidroqsisteroid dehidrogenaza III deficiti. aris iSviaTi sqesobrivi ganviTarebis darRveva, romelic moqmedebs testosteronis biosinTezze. 17 beta hidroqsisteroid dehidrogenaza (17β-HSD), igive 17 ketosteroid reduqtaza (17-KSR), aris fermentebi, romlebic erTiandebian alkohol oqsidoreduqtazebis jgufSi, iwveven 17 hidroqsisteroidebis dehidrogenacias stereogenezis dros.

qolesterinisgan , qolesterinis gverdiTi jaWvis mokveTis Sedegad miiReba pregnenoloni, masze 17 alfa hidroqsilazas moqmedebiT miiReba 17 alfa pregnolononi, Semdeg 17, 20 liazas meSveobiT miiReba dihidroepiandrosteroni, xolo masze 17 beta hidroqsisteroid dehidroqsigenazas moqmedebiT miiReba androstendioli, igive fermenti monawileobs testosteronis miRebaSic. testosteronisgan miiReba, yvelaze mZlavri androgeni dihidrotestosteroni. am fermentis deficitis dros irRveva steroidogenezi da mcire raodenobiT miiReba testosteroni, rac aferxebs embriogenezSi virilizaciis process(mamrobiTi fsevdohermafroditizmi), genetikurad mamrobiTi axalSobilebis garegani sasqeso organoebi ar Seesabameba maT gonadebs (sasqeso jirkvlebs).

17β-HSD – deficiti avtosomur recesiuli memkvidreobiT gadaecema. mdgomareoba sakmaod iSviaTia mag. holandiaSi maTi ricxvi 1 : 147 000 axalSobilzea.

garegnulad ki aseTi adamianebi Semdegnairad gamoiyurebian: SeiZleba hqondeT Sualeduri an qalis gareTa sasqeso organoebi (klitori, saSos karibWe, mcire da didi sasircxvo bageebi da a.S.) sqesobrivi momwifebis periodSi meoradi sasqeso niSnebi 46XY(biWebs) an sustad aqvT gamoxatuli an ar uviTardebaT. mZime formebis dros genetikurad mamars uviTardeba qalis sasqeso organoebi da garegnulad hgavs qals, es bavSvebi izrdebian, rogorc gogonebi da saerTod am ambavs gebuloben gardatexis asakSi, maSin roca menstruacia ar mosdiT da iwyeba mizezis samedicino kvleva. . aseve aseTi gogonebi gardatexis asakSi mcired SeiZleba daemsgavson biWebs meoradi sasqeso niSnebiT (Tmianoba, xma, kunTebi da a.S.).

17β-HSD deficitis mraval