HSD11B2 and apparent mineralocorticoid excess: This interpretation is in line with a finding previously described in the same family affected by AME and with similar observation for another gene (25) where a transcriptional regulation of the gene by the epigenetic methylation at promoter site was confirmed (26) and observed also according to genotype (15, 25), with a lower HSD11B2 promoter methylation in the two homozygous subjects compared to that observed in the wild-type individuals, thus linking genomic and epigenomic marks to phenotypic expression of disease (15, 27).