McCune-Albright syndrome
Pronunciation: muh-KYOON AL-bright SIN-drome
Rare genetic disorder causing fibrous dysplasia, café-au-lait spots, and precocious puberty.
Full Definition
A rare genetic disorder caused by somatic mutations in the GNAS gene, characterized by the classic triad of fibrous dysplasia of bone, café-au-lait skin pigmentation, and autonomous endocrine hyperfunction. In pediatric endocrinology, patients often present with peripheral precocious puberty due to autonomous ovarian or testicular function. Other endocrine manifestations may include hyperthyroidism, Cushing syndrome, growth hormone excess, and hypophosphatemic rickets. The condition is more common in females and requires multidisciplinary management due to its varied manifestations affecting multiple organ systems.
Usage
Usage note: Document all components of the triad when present in clinical notes.
In Context
- "The combination of precocious puberty, café-au-lait spots, and bone lesions suggested McCune-Albright syndrome." — Differential diagnosis
- "McCune-Albright syndrome patients require regular monitoring for multiple endocrine abnormalities." — Management protocol