The spectrum of clinical, hormonal findings in children with congenital adrenal hyperplasia in Isfahan province; a 20-year review

Objectives Congenital adrenal hyperplasia is an autosomal recessive disorder caused by complete or partial defects in one of the several steroidogenic enzymes involved in synthesizing of cortisol from cholesterol in the adrenal gland. Prompt and proper treatment of the disease would reduce symptoms and the level of androgens in patients. The present study aimed to evaluate the demographic characteristics and clinical findings of these patients.Methods This retrospective investigation was conducted in 146 patients with congenital adrenal hyperplasia participated. Their clinical and paraclinical findings were accurately recorded in the file and extracted from the records.Results Among all 146 patients, 119(81.5 %) was 21-OH Deficiency type;11-OH Deficiency type was 13(8.9 %), 10(6.8 %) was 3 beta-HSD type, StAR was 2(1.4 %) and 17 alpha(alpha)-hydroxylase Deficiency was 2(1.4 %). The mean age of disease onset in these patients was 2.45 +/- 1.16 years. Macropenis was the most frequent clinical finding in 39 cases of 64 boys (60.9 %), and Clitoromgaly was the most clinical presentation in 40 cases of 82 girls (48.7 %). The levels of testosterone, dehydroepiandrosterone sulfate, and 17-OHP significantly decreased in the last visit compared to the initial diagnosis.Conclusions Based on the clinical findings in every infant or child with ambiguous genitalia, macropenis, clitoromegaly, hirsutism, and premature pubarche, we should consider congenital adrenal hyperplasia. Prompt and proper treatment and disease control would reduce symptoms and the level of androgens in patients.