McCune-Albright syndrome
McCune-Albright syndrome, described in 1937 by McCune and Albright, is a disease where two of the three following features are present:
- (autonomous) endocrine hyperfunction
- Fibrous dysplasia
- Café-au-lait spots
The endocrine aspect of the disease can manifest itself as extremely premature puberty.
Genetically, there is a post-zygotic mutation of a gene involved in G-protein signalling, preventing downregulation of cAMP signalling.