Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep57 | Growth and Syndromes | IMPE2023

Long term follow-up of a child with McCune Albright syndrome

Simunovic Marko , Skrabic Veselin

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 hype...