Journal of www.ComprPed.com Congenital Adrenal Hyperplasia: Experience in Iranian Patients 1, 2* 2 3 Maryam Razzaghy Azar , Mona Nourbakhsh , Mitra Nourbakhsh 1 Inborn Error of Metabolism, Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IR Iran 2 Department of Pediatrics, H. Aliasghar Hospital, Tehran University of Medical Sciences, Tehran, IR Iran 3 Department of Biochemistry, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Corresponding author: * Maryam Razzaghy Azar, Inborn Error of Metabolism, Endocrinology and Metabolism Research Center, Tehran University of Medi- cal Sciences, Tehran, IR Iran.Tel: +98-21 66942903, Fax: +98-21 66421054, E-mail:
[email protected] ABSTRACT Background: 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. Objectives: 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 Methods: Medical records of patients with CAH between 1968 and 2011 were reviewed. Results: 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.