Novel homozygous pathogenic variant in HSD11B2 as a cause of apparent mineralocorticoid excess.

Abstract

Apparent mineralocorticoid excess is an extraordinarily rare autosomal recessive disorder, with less than 100 cases reported to date. This monogenic disorder, due to dysfunction of the 11-beta-hydroxysteroid type 2 enzyme, is characterized by severe hypertension and hydroelectrolytic disorders. The initial suspicion and diagnosis of this disease are crucial for targeted treatment, thereby improving the prognosis of these patients and minimizing complications.