Endocrine Abstracts

Background: McCune Albright Syndrome (MAS) is a rare sporadic disorder, affecting 1 in 100,000 to 1 in 1,000,000 people worldwide, with female predilection. It is characterised by a classic triad of fibrous dysplasia (FD) + Café au lait spots (CALs) and precocious puberty. However, in non-classic cases, diagnosis can be made based on 2 or more characteristic features of CALs, FD and Endocrinopathy Mazabraud Syndrome (MS) on the other hand, is a combination of FD + Myxoma. In MS, FD often appear in childhood, the myxoma component appear in adulthood. Both syndromes occur as a result of mutation of the GNAS1 gene which produces G-proteins that help stimulate the activity of an enzyme called adenylate cyclase. GNAS gene mutations result in the constitutive activation of the adenylate cyclase enzyme in many organs vis a vis

• Skin: Café au lait spots

• Ovary: Precocious puberty

• Bone: Fibrous Dysplasia

• Endocrine organs causing autonomous hyperfunction (Thyroid: Hyperthyroidism, Pituitary: Growth Hormone, neonatal Cushing syndrome, phosphate wating excess)

MAS and MS in the same patient is a very rare event, with few reports in the literature.

Method: Here we report a case of childhood onset of MAS and MS.

Case Report: Our patient presented with vaginal bleeding and thelarche at 2 years and was subsequently diagnosed with precious puberty and hyperthyroidism based on hormonal assay. Plain radiography showed multiple patchy areas of bony lysis (ground glass appearance) of the right femur and further workup, with skeletal survey showed a suspicious lesion in the right femur. Follow-up MRI confirmed fibrous dysplasia of the right femur + myxoma Our patient was subsequently diagnosed with Mazabraud syndrome coexisting with McCune-Albright syndrome. She had Aromatase inhibitors with GnRH analogues (as adjuncts to aromatase inhibitors) with good effects. Now at 5 years, she is currently stable and has regular monitoring of bony lesions.

Conclusion: To the best of our knowledge, this is the first case report of childhood onset of MAS and MS. MS associated with MAS has a higher risk of malignant transformation of FD which makes prompt diagnosis and monitoring important.