In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), hypercortisolism presenting in the first year of life is a recognised and serious complication. When initial pharmacological management does not achieve the clinical goal of resolution of hypercortisolism, an escalated intervention is required.
Hypercortisolism presents exclusively in the first year of life in patients with FD/MAS and may spontaneously resolve in some cases. This protocol addresses the subset of patients in whom the first-line pharmacological approach has not met its treatment target.
This protocol is indicated when the previous treatment line — which used Metyrapone as the preferred first-line agent (with alternatives including etomidate, mitotane, or ketoconazole depending on clinical circumstances) — has not achieved resolution of hypercortisolism.
When pharmacological management has proven insufficient, the next intervention involves a surgical approach directed at the source of excess cortisol production. The specific procedure is determined by the individual clinical picture. The treatment target remains 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.
However, bilateral adrenalectomy is usually required.
Unilateral adrenalectomy may be considered in stable patients who have the appearance of unilateral disease.
Assessment of adrenal insufficiency is recommended after resolution of hypercortisolism.
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