McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients clinical data including about peripheral PP, FD. Also, treatment experiences of letrozole in five patients with peripheral PP were described. Mutant enrichment with 3′-modified oligonucleotides polymerase chain reaction (MEMO-PCR) was performed on 8 patients to detect mutation in GNAS using blood. The median age at diagnosis was 5 years 2 months. (18months to 16 years) there were 11 female and 3 male. 13 patients showed FD. All female patients showed peripheral PP at onset, 3 patients subsequently developed central PP. there was a significant decrease in estradiol levels after 2 years of letrozole treatment, but the bone age was advanced in 4 patients. 2 patients had clinical hyperthyroidism, and 2 patients had growth hormone(GH) excess with pituitary microadenoma. c.602G>A(p.Arg201His) in GNAS was detected in 2 patients in blood, and c.601C>T(p.Arg201Cys) in GNAS was detected in one patient in pituitary adenoma. This study described the various clinical manifestations of 14 patients with MAS in a single center in Korea. This study first applied MEMO-PCR on MAS patients to detect GNAS mutation. Because a broad spectrum of endocrine manifestations could be found in MAS, multiple endocrinopathies should be monitored in MAS patients. Better treatment options for peripheral PP with MAS are needed.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology