Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

Abstract

Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings.

Keywords

• aldosterone
• cyp11b2 gene
• hyponatremia
• hyperkalemia
• metabolic acidosis
• faltering growth