Hypoglycemia due to 3b-Hydroxysteroid Dehydrogenase type II Deficiency in a Newborn.

ABSTRACT

Background: 3β-hydroxysteroid dehydrogenase type II deficiency results in decreased production of all three groups of adrenal steroids. Recurrent hypoglycemia as a presenting feature of this disorder has not been reported earlier. Case characteristics A genotypically and phenotypically normal female newborn delivered by in-vitro fertilization presenting with recurrent hypoglycemia. Primary adrenal insufficiency with insignificant mineralocorticoid deficiency and slightly elevated levels of 17-hydro-xyprogesterone, dehydroepiandrosterone sulphate and testosterone. Outcome: Successfully managed only with corticosteroid replacement. Message Congenital adrenal hyperplasia can rarely cause recurrent hypoglycemia in newborns.