Abstract 126: Myriad endocrine manifestations of a rare syndrome

Background: McCune-Albright syndrome (MAS) is a rare disorder of striking complexity with a prevalence of 1 in 100,000. It arises from somatic, gain-of-function mutations in GNAS. Aims and Objectives: The Present case series highlights varied manifestations of Mc Cune Albright syndrome. Case Details: C1: 6 y/o female presented with bleeding per vaginum, breast development. H/o pain in Right hip with difficulty in walking since 3 years. C2: 8 y/o female, presented with progressive genu varum and multiple dental caries. H/o vaginal bleeding and breast enlargement. C3: 6 y/o girl presented with inability to walk, bony pains. H/o multiple fractures with trivial trauma. C4: 16 year boy presented with acral enlargement, coarsening of facial features accelerated height gain. Clinical examination revealed acromegaloid features, gynaecomastia, expressive galactorrhea, goiter. Investigations showed elevated GH, IGF1, PRL. MRI brain showed pituitary enlargement. Clinical examination revealed multiple café au lait macules in all the cases and rachitic changes, hypophosphatemia with low TmP GFR in C2, C3; subclinical hyperthyroidism in C3. Hormonal profile was suggestive of GIPP. Bone scan showed polyostotic fibrous dysplasia. Conclusion: The broad phenotypic spectrum can make MAS a challenging disorder. All endocrinopathies should be evaluated and managed accordingly.