Neonatal cholestasis, when to check your cortisol?

Introduction: Hypocortisolism is a treatable cause of neonatal cholestasis, but untreated it is potentially dangerous in procedures like a liver biopsy. Guidelines for the diagnostic work-up of neonatal cholestasis are inconsistent concerning cortisol measurement. Aim: Aim is to describe in what frequency hypocortisolism was not properly excluded in the diagnostic work-up of neonatal cholestasis at the time of the liver biopsy or thereafter. Method: Retrospectively we collected data in the Erasmus MC-Sophia of children <1 year old who underwent a liver biopsy because of cholestasis of unknown cause. When no diagnosis was made after liver biopsy, missing and low cortisol levels were measured in stored serum or saliva. Results: 54 children underwent a liver biopsy in their first year of life because of neonatal cholestasis e.c.i. In 24 of the 54 children (44%) a cortisol was measured during the diagnostic work-up, whereof 17 before biopsy. After biopsy in 25 of the 54 children liver histology showed aspecific cholestatic changes and no final diagnosis could be made. In 11 of these 25 (44%) children cortisol was measured during the period of cholestasis. In 7 of them the cortisol level was below the reference range, but no further diagnostic tests were done at that moment. After cortisol measurement in stored serum or saliva 2 of the 25 children were diagnosed with cortisol deficiency. Conclusion: In more than 50% of the children, cortisol wasn't measured in the diagnostic work-up of neonatal cholestasis. This led to adelay in the diagnosis of hypocortisolism in 2 children.We recommend including serum cortisol in the standard diagnostic work-up of neonatal cholestasis, before performing a liver biopsy. Low cortisol levels must lead to further tests of adrenal insufficiency.

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