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 function and pigmentation suggesting a causal relationship between cortisol deficiency and cholestasis.

Conclusion: On literature review we find several case reports of neonates presenting with cholestasis as a result of hypopituitarism, however in this case pituitary function was intact. Primary adrenal insufficiency as a cause for neonatal cholestatic jaundice is rarely reported in Caucasian populations. We explore potential pathological mechanisms from experimental models linking cortisol levels with bile synthesis, transport and flow rate. We conclude with the recommendation that neonates with unexpected hyperpigmentation, hypoglycaemia and cholestasis should alert paediatricians to the possibility of cortisol deficiency. Prompt investigation of adrenal function should be undertaken as this is a completely reversible cause of cholestasis.