ea0070ep549 | Hot topics (including COVID-19) | ECE2020
Lungu Ionela
, Emanuela Georgescu Carmen
, Al-Khzouz Camelia
, Asavoaie Carmen
, Alina Silaghi Cristina
McCune-Albright Syndrome (MAS) is a rare congenital sporadic disorder due to an embryonic post-zygotic somatic mutation in the GNAS1 gene, defined by the triad of peripheral precocious puberty (PPP), unilateral café-au-lait spots and fibrous dysplasia (FD) of bone. PPP or precocious pseudopuberty is the most common endocrinopathy seen in MAS. Other hyperfunctioning endocrinopathies include hyperthyroidism, acromegaly, FGF23-mediated hypophosphatemia and neonatal hypercort...