April - June 2013, Volume 9, Issue 2

Ghervan CM, Sufana C., Filip A., Silaghi A., Valea A., Ghervan L., Muntean V

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

Acta Endo (Buc) 2013, 9 (2): 279-288
doi: 10.4183/aeb.2013.279

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. 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. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia. 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.

Keywords: McCune-Albright syndrome, acromegaly, Cushing syndrome, bone pain.

Correspondence: Cristina Mariana Valeria Ghervan MD, University of Medicine and Pharmacy, Endocrinology, str. Pasteur nr 3, Cluj-Napoca, Cluj, 400349, Romania, E-mail: cghervan@yahoo.com