hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...