MCCUNE ALBRIGHT SYNDROME

Course overview

MCCUNE-ALBRIGHT SYNDROME IS A RARE GENETIC DISORDERED ORIGINALLY RECOGNIZED BY THE TRIAD OF POLYOSTOTIC FIBROUS DYSPLASIA, PRECOCIOUS PUBERTY, AND CAFE-AU-LATE SPOTS. A VARIETY OF ENDOCRINE DISORDERS, INCLUDING HYPERTHYROIDISM, ACROMEGALY, PHOSPHATE WASTING, AND CUSHING SYNDROME ARE NOW CONSIDERED AS PART OF THE ENDOCRINOPATHIES SEEN IN THIS DISORDER. THE VARIABLE CONSTELLATION OF SYMPTOMS ARISES FROM A SOMATIC ACTIVATING MUTATION OF THE GNAS GENE, WHICH IS PRESENT IN MANY TISSUE TYPES. THIS ACTIVITY REVIEWS THE ETIOLOGY, PRESENTATION, EVALUATION, AND MANAGEMENT OF MCCUNE-ALBRIGHT SYNDROME AND REVIEWS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING, DIAGNOSING, AND MANAGING THE CONDITION.