Systematic review details McCune-Albright syndrome prevalence, genetics, and clinical framework

This systematic review synthesizes existing evidence on McCune-Albright syndrome (MAS), a rare mosaic disorder affecting individuals with the condition. The review aimed to detail the molecular genetic basis, phenotypic heterogeneity, diagnostic strategies, and management approaches for MAS, though it does not report specific study design details, sample size, or follow-up duration from the included studies.

The main findings indicate an estimated prevalence of MAS ranging from 1 in 100,000 to 1 in 1,000,000 individuals, with no clear differences observed across ethnic groups. The pathogenic mechanism is identified as postzygotic somatic gain-of-function mutations in the GNAS gene, which encodes the α subunit of the stimulatory G protein. The identified pathogenic variants are concentrated at codons R201 (e.g., R201H and R201C) and Q227. No specific intervention, comparator, or clinical outcomes were reported in the provided data.

Safety, tolerability, and adverse event data were not reported. Key limitations of the underlying evidence were not specified in the input. The review's practice relevance lies in providing a structured framework to support clinical diagnosis and multidisciplinary management of this complex condition. Clinicians should interpret this as a summary of existing knowledge rather than new primary evidence.