R Vakili,
Volume 16, Issue 2 (8-2002)
Abstract
In this study the clinical and epidemiological characteristics of congenital
adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam
Reza Hospital in Mashhad during a 4 year period.
21-hydroxylase deficiency was present in 42 patients (89.3%), the simple
virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency
was present in 5 patients (10.7%). The median chronological age at diagnosis
in the salt-losing form was 68 and 47 days in boys and girls respectively. 7
girls were considered to be male before the diagnosis was established. Parental
consanguinity rate among families of patients was higher than the general population
in Mashhad (82% vs. 35%). In 16.2% of patients the history of disease was
positive in siblings.
This study showed that the incidence of congenital adrenal hyperplasia is
expected to be high due to a high rate of consanguinity in our population, hence
genetic counseling before marriage would definitely be beneficial in our population.
