A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

Camats Tarruella, NúriaNúriaCamats TarruellaÜstyol, AlaAlaÜstyolAtabek, Mehmet EmreMehmet EmreAtabekDick, BernhardBernhardDickFlück Pandey, Christa EmmaChrista EmmaFlück Pandey0000-0002-4568-55042024-10-242024-10-242015-10https://boris-portal.unibe.ch/handle/20.500.12422/140048A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.en17α-hydroxylase/1720-lyase deficiency; hypertension; pubertal development; sexual development; steroidogenesis600 - Technology::610 - Medicine & healthA novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 genearticle10.7892/boris.792772650900810.1002/ccr3.343