Two cases of deficiency of 17a-hydroxylase / 17,20-lyase (p450c17)

Abstract

Congenital dysfunction of the adrenal cortex (VCD) is a group of diseases with an autosomal recessive type of inheritance, which are based on a defect in one of the enzymes or transport proteins involved in the biosynthesis of cortisol in the adrenal cortex. Common in the pathogenesis of these diseases is a decrease in cortisol synthesis, leading to the overproduction of adrenocorticotropic hormone (ACTH) and, as a result, the development of adrenal cortical hyperplasia and the accumulation of metabolites preceding the defective stage of steroidogenesis.