A study identifies a novel NR0B1 pathogenic variant linked to congenital adrenal hypoplasia, which presents with azoospermia and normal testosterone levels. This discovery enhances understanding of the genetic underpinnings of this rare condition.
novel nr0b1 pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone
Original title: “A novel NR0B1 pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone.”