Endocrine Abstracts

Introduction: McCune-Albright syndrome (MAS) is a rare, Mosaic genetic (Lethal in the homozygous state) but non-hereditary disorder. The diagnosis is most often made in childhood, the management is multidisciplinary and includes several aspects. We report a case of Mc Cune Albright syndrome and the various difficulties encountered in its management.

Case report: A, H 22 years old, at the age of 6 months presented skin macules. At the age of 3 years he developed gait disorders, a taller stature compared withother children of the same age and gender, then signs of precocious puberty with secondary sexual characteristics at the age of 7 years. In 2015 the diagnosis of Mccune Albright syndrome was retained.

Discussion: Mc Cune Albright syndrome is initially defined by a clinical triad: precocious puberty, polyostotic fibrous dysplasia, skin hyperpigmentation. Currently this definition has been extended to include other endocrinopathies and hepatobiliary disorders. In addition to the classic triad, our patient presented a somatotropic adenoma complicated with a thyrotropic deficit, in association witha left testicular tumor with Leydig cells. The management is multidisciplinary with no approved treatment. The fibrous dysplasia could be managed medically sometimes surgically, but no current treatment stops lesional progression. The surgical management of polyostotic craniofacial fibrous dysplasia is often disappointing with high risk of postoperative regrowth. The thickening of skull induced by fibrous dysplasia and high hemorrhage risk makes the surgical treatment of acromegaly difficult, the reason justifying the choice of medical treatment for our patient.

Conclusion: McCune Albright syndrome is a rare pathology, the diagnosis is sometimes made early in childhood but the treatment is still limited an challenging. Furtherre search is needed to improve its management.

Bibliography: 1- Marlous Rotman, Neveen Agnes Therese Hamdy and Natasha M. Appelman-Dijkstra, Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone, Br J Clin Pharmacol, 2019; 85: 1169–1179 2- Sylvie Salenave 1, Alison M Boyce, Michael T Collins, Philippe Chanson, Acromegaly and McCune- Albright syndrome, J Clin Endocrinol Metab, 2014;99(6):1955-69.