Endocrine Abstracts

Introduction: We report the case of a term neonate born with dark skin to Caucasian parents, who presented with severe hypoglycaemia on the postnatal ward. He went on to develop prolonged cholestatic jaundice, hypertransaminasaemia, pale stool and hepatosplenomegaly.Case report: Thorough investigation led to a diagnosis of primary glucocorticoid deficiency. Hydrocortisone replacement therapy resulted in resolution of the cholestasis, improvement in liver...

Background: CYP11B2 encodes a steroid 11/18-β-hydroxylase that functions in mitochondria in the zonaglomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes three necessary reactions: 11-β-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone, 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and 18-oxidation of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase (<e...