Congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. A case report

Abstract

The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11β-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.