[Congenital adrenal hyperplasia, diagnosis and treatment]

ABSTRACT

Congenital adrenal hyperplasia [CAH] is an of autosomal recessive disorder of adrenal steroidogenesis leading to a deficiency of cortisol. The deficiency of cortisol results in increased secretion of corticotropin which, in turn leads to adrenocortical hyperplasia and overproduction of intermediary metabolites. In 90% of the cases, with this disease, there is a problem with the enzyme 21 hydroxylase [21 OHD]. Severe and mild forms of these disorders, caused by variations in the severity of the genetic mutations have been reported. Depending on the enzymatic step that is deficient, there may be signs, symptoms and laboratory findings of mineralocorticoid deficiency or excess; incomplete virilization or premature androgenization of the affected male and virilization or sexual infantalism in the affected female. It appears that this disease is more prevalent in Iran because of the custom of family marriages, however its exact prevalence needs correct diagnosis and documentation of cases. In this article the process of the disorders, diagnosis and treatment will be discussed