ESPE Abstracts (2014) 82 S1.2


Bethesda, USA

The McCune–Albright syndrome can be a disease of striking complexity, the management of which can be challenging. However, an understanding of the physiologic consequences of the underlying molecular and developmental biology makes the evaluation and treatment of this disease relatively straightforward. MAS arises from activating mutations in the ubiquitously expressed cAMP-signaling protein, Gsα. The mutations occur very early in development, prior to gastrulation. The timing and location of the mutational event dictate the ‘map’ of affected tissues. As such, a thorough phenotyping at presentation allows for the identification of all affected and, equally important, unaffected tissues that will track over a patient’s lifetime. Identifying affected and unaffected tissues, and understanding the effects of cAMP signaling in a given tissue, explains the clinical presentation, infers treatment, and allows for accurate prognostication.

Each patient is different, and the array of tissues affected range from few to many. In complex cases, care often involves the coordinated efforts of multiple subspecialists. Patients suffer and parents are often frustrated with the fragmentation of care that can occur. A fairly comprehensive, evidenced-based literature exists to guide physicians in the diagnosis and treatment of MAS. In this symposium a concise distillation of this literature and an algorithm to guide the diagnosis and treatment will be reviewed that will equip the pediatric endocrinologist with the tools to understand the disease, and coordinate and direct care of this often challenging and complex disease.

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