Searchable abstracts of presentations at key conferences in endocrinology

ea0065p33 | Adrenal and Cardiovascular | SFEBES2019

Aldosterone deficiency type 1 due to mutation of the CYP11B2

Ismail Rayan , Eid Hatem , Ye Jing , McEntagart M , Bano G

Isolated hyperreninemic hypoaldosteronism presents in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone. It is usually caused by mutations in the CYP11B2 gene encoding aldosterone synthase. Patients have normal cortisol levels and no features of congenital adrenal hyperplasia. We report a patient who presented with hyperreninemic hypoaldosteronism in early infancy.<p class="abs...