hrp0082p3-d2-641 | Adrenals & HP Axis (1) | ESPE2014

Congenital Hypoaldosteronism of Unknown Etiology in Five Half-Siblings

Foote Jan , Cook Jennifer

Background: The children had normal 21-hydroxylase screening. An atypical form of congenital adrenal hyperplasia was initially suspected. The first child (female) had hyponatremia, hyperkalemia, elevated ACTH, and elevated androgens at birth. The second child (male) presented at 16 days with hyponatremia, hyperkalemia, normal cortisol, very elevated renin, low aldosterone, and elevated deoxycortisol. The third (female) and fourth (male) siblings had similar electrolyte abnorma...