hrp0089p3-p404 | Adrenals and HPA Axis P3 | ESPE2018

Clinical and Biochemical Phenotype of Aldosterone Synthase Deficiency

Fortsch Katharina , Doing Carsten , Wudy Stefan A , Hartmann Michaela F , Martin Holterhus Paul , Mayatepek Ertan , Reinauer Christina , Meissner Thomas , Kummer Sebastian

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...