Searchable abstracts of presentations at key conferences in endocrinology

ea0070ep549 | Hot topics (including COVID-19) | ECE2020

Precocious pseudopuberty with central progression due to McCune-Albright Syndrome: case report

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...