IMPE Abstracts

Aim: To characterize the patients with CS secondary to MAS followed in a single tertiary center of Argentina.

Methods: Retrospective review of medical records of patients with clinical diagnosis of MAS followed between 1987- 2022. Clinical, biochemical, therapeutic interventions, histological features, and follow up were evaluated. Diagnosis of CS was based on clinical signs and either elevated urinary free cortisol and/or lack of cortisol suppression in dexamethasone test.

Results: 6 of 29 (20.7%) patients with MAS presented with CS. Mean age at diagnosis was 4 months (0.4-7 months). Two of them had history of SGA (33 %). Clinical features at diagnosis were cushingoid facies (n=4), failure to thrive (n=3), hypertension (n=3), and hirsutism (n=2). All patients received ketoconazole treatment to control hypercortisolemia. Bilateral adrenalectomy was performed in 4 patients and unilateral adrenalectomy (left) in 1. Histopathology showed bilateral adrenocortical hyperplasia in 5 patients (nodular n=4, diffuse n=1). One patient had spontaneous resolution. Age at diagnosis was earlier in MAS patients with CS (0.34 vs 5.78 years P<0.0001). Fibrous dysplasia was more frequent in non-CS patients (P= 0.03). No differences were found in other MAS manifestations and in the time of follow-up between patients with and without CS.

Conclusions: Earlier CS may be the first manifestation of MAS, even before the appearance of café au lait skin macules. Due to the rareness of this condition and its morbidity a high index of suspicion is required. Natural history and severity of fibrous dysplasia among CS and non-CS MAS patients need to be further evaluated.