IMPE Abstracts

Introduction: McCune Albright syndrome is diagnosed by classical clinical manifestations of cafe au lait skin macules, multiple endocrinopathies and fibrous dysplasia of bones. The prevalence of syndrome is estimated at 1 in 100,000 to 1 in 100,000,000. McCune Albright syndrome is caused by a postzygotic mutation of the GNAS gene, which results in great variability in clinical presentation. The most common endocrine manifestation is premature puberty, but hyperthyroidism, Cushing's disease and increased growth hormone secretion can also occur.

Case report: We present the case of a 2.37 years old female who was diagnosed with McCune Albright syndrome at age of 8.9 months. She was presented with growth hormone excess (80 cm (>99. pc., +4.32 SDS according to WHO) and large cafe au lait skin macula (26 x 7.5 cm). In oral glucose test she had no growth hormone suppression (growth hormone 10.3 mU/L) with multiple normal levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor-binding protein 3 (IGFBP-3) were observed. Genetic testing from skin biopsy was negative for GNAS gene mutation and magnetic resonance (1.5 tesla) imaging of the pituitary gland did not detect a pituitary adenoma. She was started with octreotide and after 1.5 years she has reduction in the growth rate (from 29.38 to 14.1 cm/year) and the current body height is 102 cm (+3.62 SDS according to WHO).

Conclusion: In this case report we present the youngest patient diagnosed with McCune Albright syndrome with excess growth hormone. We would like to emphasize the lack of available data on treatment of growth hormone excess and follow-up in pediatric population.