Congenital Adrenal Hyperplasia: Experience in Iranian Patients

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder stemming from one of the enzymatic defects in the biosynthesis of cortisol from cholesterol. In the majority of instances the disorder comprises deficiency of 21-hydroxylase (21-OHD). This defect causes excessive androgen production from adrenal source, which leads to virilization with varying degrees of severity (Prader grade 1-5) in female fetuses. To determine the frequency of different types of congenital adrenal hyperplasia, rate of consanguinity, family occurrence, birth weight, and final height and weight.Patients and Medical records of patients with CAH between 1968 and 2011 were reviewed. Out of 617 patients, 79.6% had 21-hydroxylase deficiency (21-OHD). In 21-OHD group 94.5% had classical type and 5.5% were non-classic. Among the classic type 78% had salt-wasting form (SW) and 22% simple virilizing (SV). Both 21-OHD-SV and SW were diagnosed more frequently in females. Frequency of other types were as follow: 11-hydroxylase deficiency (11-OHD), 13.3%; 3ß-hydroxysteroid dehydrogenase deficiency (3ß –OHD), 4.1%; lipoid adrenal hyperplasia, 1.1%; 17-hydroxylase deficiency, 1%; hypoaldostronism, 0.6% and Antley-Bixler, 0.3%. Parental consanguinity was present in 62.6% and familial occurrence was reported in 42.6% of the patients. Sixteen girls had grade 5 virilization of Prader staging (SW, 10; SV, 2; 11-OHD, 4). The most prevalent Prader stage was 4 in 21-OHD-SW and 11-OHD. In 21-OHD-SV, 9 patients had Prader grade 4 and 5 virilization. The difference between mid-parental height and final height was highest in 21-OHD-SV; its SDS was (-1.2 ± 1.1). Birth weight of all patients was normal except for 5 patients. The frequency of low and very low birth weight was not significantly different from the general population. All patients were assigned as their genetic gender except for 5 patients with delayed diagnosis or parental opposition. The prevalence of different types of CAH, grade of virilization, final weight, height and birth weight, were recorded from the referral patients..