McCune–Albright syndrome

Also known as: Polyostotic fibrous dysplasia with endocrinopathy

Triad of fibrous dysplasia, café-au-lait macules and autonomous endocrine hyperfunction.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected, less often; Female: affected, more common; Children: yes, early childhood
Gene(s) involved: GNAS

Etiology & mechanism

Somatic activating GNAS mosaic variant.

Gene(s) involved (1)

GNAS

Symptoms & signs (10)

bone paincafé-au-lait maculescushing syndromefibrous dysplasiafracturesgrowth hormone excesshyperthyroidismhypophosphatemic ricketsprecocious pubertyvaginal bleeding

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