Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche. Therefore, this study aimed to evaluate the demographic characteristics and clinical findings of patients with congenital adrenal hyperplasia. In this cross-sectional study, 161 patients with congenital adrenal hyperplasia participated. All patients were followed up, and anthropometric findings of clinical examinations and paraclinical findings were accurately recorded in the files, and extracted from the records. Findings: 142 cases of deficiency of 21-hydroxylase deficiency (21-OHD), 10 cases of 3β-hydroxysteroid dehydrogenase (3β-HSD), 7 cases of 11-hydroxylase deficiency (11-OHD), and 2 cases of steroidogenic acute regulatory protein (StAR) were studied. 69 patients were boys and 92 were girls, with an average age of 9.39 ± 5.61 years. The prevalence of macropenia was 22.4%, as well as clitoromegaly 33.5%, ambiguous genitalia 14.3%, hirsutism 5.0%, premature facial hair loss 5.6%, and premature puberty 11.8%; and mean age of puberty was 8.89 ± 2.48 years. Based on the clinical findings, in children with ambiguous genitalia, macropenia, clitoromegaly, hirsutism, premature facial hair growth, and premature puberty, we should consider congenital adrenal hyperplasia.