Isolated cortisol deficiency: a rare cause of neonatal cholestasis.

摘要: For decades, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the identity of hormone whose deficiency causes such derangement liver is not clear. Here, we report four cases isolated severe cortisol presenting with neonatal cholestasis and hypoglycemia, whom two had familial primary glucocorticoid other adrenocorticotropin deficiency. The resolution by hydrocortisone replacement therapy suggests a causal relationship between development In conclusion, presentation young infant hypoglycemia should alert pediatricians possibility prompt investigation adrenal function be undertaken.