Analysis of clinical features and related genes variation in 41 girls with McCune-Albright syndrome

Objective To investigate the clinical characteristics and molecular pathological mechanism of McCune-Albright syndrome(MAS)in order to provide a guidance for the precision medicine of MAS. Method The clinical data and genetic findings of 41 patients with MAS were analyzed retrospectively. Results (1)MAS girls had the phenotype of peripheral precocious puberty with premature sexual development and high estradiol, low LH and FSH, and the increased volume of uterus and ovary. (2)In 41 MAS cases, there were 17 cases with GNAS1 gene mutation, and the total positive rate was 41.5%, of which the classic triad was 66.7%, two signs 56.3%, and 12.5% in only one classic sign. GNAS1 gene mutation was found in 78.6% of patients with polyostotic fibrous dysplasia of bone, while only 55.0% in patients with cafe au lait skin spots. Children with precocious puberty and fibrous dysplasia of bone is an important basis for clinical diagnosis of MAS, but cafe au lait skin spots does not seem to be the specifical manifestation of MAS. Conclusion Clinically MAS was lack of typical clinical manifestations, and the most important clinical weight factor for the diagnosis of MAS was peripheral precocious puberty with fibrous dysplasia of bone. GNAS1 gene screening may be helpful to improve the clinical accurate diagnosis of MAS. (Chin J Endocrinol Metab, 2016, 32: 995-998) Key words: McCune-Albright syndrome; Clinical analysis; GNAS1 gene; Gene mutation