This protocol addresses patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) who develop hypercortisolism within the first year of life — a distinct endocrine complication of FD/MAS requiring prompt assessment.
Hypercortisolism in this context presents exclusively in the first year of life and may spontaneously resolve. The severity of cortisol excess in this age group makes early recognition and a structured management approach essential.
The protocol identifies a preferred pharmacologic agent as the first-line choice, with a specific alternative for critically ill patients and further options in reserve — selection criteria, sequencing, and full clinical guidance are in the complete protocol.
Treatment goal: Resolution of hypercortisolism.
Hypercortisolism presents exclusively in the first year of life and may spontaneously resolve.
Metyrapone is the preferred first-line agent with etomidate for critically ill patients.
Other options include mitotane and ketoconazole.
Ketoconazole should be used with caution as it is frequently associated with hepatic toxicity.
DOI: 10.1186/s13023-019-1102-9 View source ↗