Endocrine Abstracts

Introduction: 11β-Hydroxylase deficiency (11β-OHD), caused by CYP11B1 mutations, is characterized by hyporeninemic, hypokalemic hypertension and hyperandrogenism. We studied the mutations of CYP11B1 gene in two patients with classic 11β-OHD.Observations: We present the first case of a 23 year old boy with preliminary diagnosis of 21 β-OHD diagnosed at the age of 10. The patient presented with hypertension and hypokalemia which were ag...