Searchable abstracts of presentations at key conferences in endocrinology

ea0081p1 | Adrenal and Cardiovascular Endocrinology | ECE2022

Familial hyperaldosteronism in a Singaporean kindred

Kwek Kevin , Phua Eng Joo

Familial hyperaldosteronism type I (FH-I) is a rare subset of primary aldosteronism (PA) with an autosomal domintant pattern of inheritance. The molecular basis was determined to be from the unequal crossing over of the 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes, resulting in a chimeric gene duplication. This in turn leads to the ectopic synthesis of aldosterone in the zona fasciculata of the adrenal glands under the regulation of adrenocorticotrop...