Congenital adrenal hyperplasia

ABSTRACT

Congenital adrenal hyperplasia [CAH] is an autosomal recessive disorder caused by any of the enzymatic steps requied to synthesize adrenal hormones. Depending on the enzymatic step that is deficient, there may be clinical and laboratory finding. The aim was to evaluate the epidemiology and clinical finding of CAH. The clinical and laboratory characteristics of 68 patients with CAH who were managed in the pediatric Endocrinology unit of Imam Reza Hospital during 7 years were recorded in this study; the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated in 68 patients admitted Imam Reza Hospital in Mashed, also one patient has been followed in endocrine and metabolism pediatric clinic in this time, during 6 years retrospectively and I year prospectively. Parental consanguinity rate among families of patients was higher than the general population in Mashad [73.8% vs 30%]. In 44.6% of patients the history of disease were positive in sibling. 52.2% of patients were males and 47.8% females. 21- Hydroxylase deficiency was present in 60 patients [88.2%], salt - losing form in 40 [66.7%] and simple virilizing form in 20 [33.3%] of them. 11- beta hydroxylase deficiency was present is [10.3%]. Also one case of 3- beta OHSD was reported. The median chronological age at diagnsis in sall- losing form were 75 and 85 days in boys and girls; in simple virilizing form were 46 and 43 months in boys and girls. 14 of girls were considered to be male before diagnosis was established. This study underscores the necessity for prospective neonatal screening, so that the benefits of early diagnosis and treatment can be realized. In addition the incidence of CAH is expected to be high due to a high rate of consanguinity in our population, here genetic counseling before marriage is beneficial in our population