ESPE Abstracts

Introduction: McCune Albright syndrome (MAS) is a rare disease caused by mutations of the GNAS1 gene, clinically it is characterized by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty.

Case Report: We present a clinical case of an 8-year-old boy with a cafe-au-lait skin pigmentation diagnosed with McCune-Albright syndrome in the Republic of Kazakhstan. The first clinical manifestations of the disease were discovered at the age of 3 when the parents began to notice that the child was limping, experiencing pain while walking, and gaining weight and height poorly. He has multiple fractures of the femoral body (diaphysis), closed transverse fracture of the middle third of the right femur with displacement, fibrous osteodysplasia of the right femur. Patient has complaints on pain syndrome. A bone biopsy was performed, signs of fibrous and muscular tissue with signs of inflammation were described. During first hospitalizaion in pediatric endocrinology department thyrotoxicosis and the nodular formation of the right lobe of the thyroid gland with a size of 18,6 mm х 10,7 mm were defined, TIRADS 4. First biopsy of nodule revealed signs of colloidal goiter with follicular epithelium proliferation on the background of cystic degeneration (TBSRTC 2017) II. Hormonal profile: PTH 10,63 pg/ml (15-65), TTH < 0,005 mMe/ml, GH 6,74 (0,09-6,29), FТ3 12.34 pmol/l (3.88 - 8.02), FT4 25.25 pmol/l (12.50 - 21.50). Bone age 8 years. Bone mineral densitometry: Z-score L1-L4 (-3,5). Bisphosphonate therapy with zoledronic acid was initiated with the aimof pain relief, Thiamazole was prescribed to manage thyrotoxicosis syndrome. After 6 month patient was admitted again, his pain was reduced, but size of thyroid nodule was enlarged to 22,5 х 11,5 mm, hormonal profile showed increased amount of thyreoglobulin 142.10 ng/ml (0.00 - 77.00), TTH 0,96 ME/l, FT4 10,90 (12,5-21,5). Biopsy of nodule was provided, AUS. Bethesda III. There is no significant improvement in the bone mineral densitometry.

Conclusion: Patient diagnosed McCune Albright syndrome according to presence of specific symptoms such as fibrous dysplasia, cafe-au-lait skin pigmentation, thyrotoxicosis. It was recommended to to follow-up thyroid nodule and continue bisphosphonate, thyamazol therapy.