hrp0089p2-p019 | Adrenals and HPA Axis P2 | ESPE2018

Two Cases of Apparent Mineralocorticoid Excess due to Novel Mutations in HSD11B2 Gene

Makretskaya Nina , Kostrova Irina , Tiulpakov Anatoly

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...