McCune-Albright syndrome, a rare form of precocious puberty: diagnosis, treatment, and follow-up | Zendy

Haydeé Comar | Zendy

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McCune-Albright syndrome, a rare form of precocious puberty: diagnosis, treatment, and follow-up

Author(s) -

Haydeé Comar

Publication year - 2021

Publication title -

archivos argentinos de pediatria

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.

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