Open AccessMcCune-Albright syndrome, a rare form of precocious puberty: diagnosis, treatment, and follow-up
Author(s) -
Mirta Gryngarten,
Haydeé Comar,
Andrea Arcari,
Elisabeth Boulgourdjian,
María Eugenia Escobar,
Horacio M. Domené
Publication year - 2021
Publication title -
archivos argentinos de pediatría
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2021.eng.e420
Subject(s) - mccune–albright syndrome , fibrous dysplasia , medicine , precocious puberty , gnas complex locus , pediatrics , café au lait spot , pathology , hormone , biochemistry , chemistry , gene , neurofibromatosis
McCune-Albright syndrome (MAS) is a genetic disorder defined by fibrous dysplasia of bone, café-au-lait skin spots, and autonomous hyperfunction of one or more endocrine organs. MAS is caused by activating mutations of the GNAS1 gene. The most frequent type of endocrinopathy is gonadal endocrinopathy in the form of peripheral precocious puberty.