REPORT OF 285 PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AND EVALUATION OF APPROXIMATE REVALENCE OF THE DISEASE IN IRAN

Abstract

In this study, 285 cases of congenital adrenal hyperplasia who were followed in the Tehran University Hospitals and Institute of Endocrinology and Metabolism arc reported. Among these cases, 165 (57.9%) were female and 120 (42.1%), male. The most common type of congenital adrenal hyperplasia in these patients was the salt-losing type of 21-hydroxylase deficiency (57.9%); 11-hydroxylase deficiency was present in 13.68% of patients. There were only 3 cases with 3-beta hydroxysteroid dehydrogenase deficiency, 2 cases with 17-alphahydroxylase deficiency and one with 20, 22-desmolase deficiency. Presenting complaints were in decreasing order of frequency: ambiguous genitalia, vomiting and dehydration, precocious puberty, hypertension, failure to thrive, hirsutism and primary amenorrhea. The age of patients at the time of diagnosis was between 2 days to 17 years and the most common age was in the first two years of life especially in the neonatal period.
A positive family history of the same disease was present in 17 siblings of our patients. (21-OHD = 14 H-OHD=3). There were 27 cases of death among these patients (23 male and 4 female that 24 cases had 21-OHD and 2 cases had 3 beta HSD deficiency and one case had 20,22-desmolase deficiency) .