Determinants of growth and final height outcome in congenital adrenal hyperplasia due to 21-hydroxylase deficiency / 国际儿科学杂志

ABSTRACT

Congenital adrenal hyperplasia(CAH)is a family of autosomal recessive disorders caused by the loss or severe decrense in activitv in one of the steroidogenie enzymes involved in cortisol biosynthesis.The cortisol synthetic block leads to corticotropin stimulation of the adrenal cortex.with accumulatiOn of cortisol precursors that are diverted to sex hormone biosynthesis.The most common CAH is 21-OHD due to deficiency of the enzyme 21-hydroxylase.It is distinguished in classical(C-CAH)and non-classical form(NC-CAH),and it is also one of the most eomnon autosomal recessive inherited disorders in human.The goal of therapy in CAH is to replace the missing glucocorticoids and mineralocorticoids,thereby suppressing eorticotropin concentrations and normalizing adrenal androgens, a8 well as to enable normal growth and skeletal maturation.Nonetheless.growth is a key problem in CAH because patients often fail to reach their target height,and the average heights are shorter than the general population,relating both to the underlying disease and its treatment.This paper review the literature on growth and final height outcome,considering the factors related tO diagnosis and treatment which are known to affect height outcome.Current strategies to optimize height outcome are indicated and future treatment strategies as well.