Complex genetic disorder affecting the bone, skin and endocrine systems
Aetiology
- Post-zygotic somatic GNAS mutation (not germline) resulting in mosaicism
- Results in constitutive adenylyl cyclase signalling and overproduction of several hormones
Clinical presentation
- Cafe-au-lait skin pigmentation
- Polyostotic fibrous dysplasia
- Precocious puberty (typically females)
- Thyroid nodules
- GH excess
- Cushing's syndrome
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