McCune-Albright Syndrome – The Difficult Therapeutic Strategy in the Context of Multiple Tissue Damage: Fibrous Dysplasia, Acromegaly and Cushing Syndrome

Abstract

Introduction.McCune-Albright syndrome (MAS) is a noninherited, genetic condition defined by the clinical triad: polyostotic fibrous dysplasia (FD), café-aulait skin spots and different hyper functioning endocrinopathies.Case presentation. The patient, a 39-year-old female previously diagnosed with MAS, presented with severe, left-sided skeletal pain and accentuated asymmetrical facial features. Although there were no clinical signs (except type II diabetes) the hormonal dosages revealed GH hypersecretion and ACTH-independent hypercortisolism. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia.The modified bone anatomy rendered the surgical adenomectomy impossible, whereas radiotherapy was not an option due to the increased risk of sarcomatous transformation of FD; therefore somatostatin analogues were used. Cushing syndrome was cured by left adrenalectomy. For the facial dysmorphism, surgical cure was proposed.Conclusion. We report the case of an adult female with MAS associating both acromegaly and Cushing syndrome, the MAS-Cushing syndrome association having been identified only in children up to present. The setting of a therapeutic strategy in these cases is difficult determined by the multiple concomitant tissue damage and by the limited number of therapeutic options available, not only for acromegaly, but also for pain management and the cure of bone deformities.

McCune-Albright Syndrome without Cafe au Lait Spots

“…Cushing's syndrome is the rarest of endocrine abnormalities found in MAS (25). Cushing's syndrome is diagnosed in most cases during the neonatal period or infancy, often being, when present, the first clinical sign of the disease (1, 25) but there are times when it is asymptomatic and diagnosed in adulthood (26). There is an evidence of autonomous cortisol secretion due to activating GNAS1 mutations in the adrenal gland, leading to macronodular adrenal hyperplasia, requiring early adrenalectomy.…”