Progress Of Treatment For 21-hydroxylase Deficiency

Congenital adrenal hyperplasia(CAH)is a group of autosomal recessive genetic diseases caused by mutations in the genes encoding enzymes in the steroid synthesis pathway,of which the most common type is 21-hydroxylase deficiency(21-OHD).Glucocorticoid therapy is the first-line treatment of 21-OHD.The goal is to suppress androgen elevation drove by high adrenocorticotrophic hormone(ACTH)and replace the existing glucocorticoid deficiency.Clinically,according to the subtype of disease,mineralocorticoid or salt supplemental can be used.There are still many deficiencies in the clinical management of conventional hormone therapy.In recent years,new administration modes and supplementary treatments have made progress in the research of 21-OHD treatment,which may provide more effective and safer treatment for patients with21-OHD.This article reviews the current progress of 21-OHD pharmaceutical therapy,and aims to provide a new understanding for the treatment of CAH.