Context: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature.
Objective: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years).
Design: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range).
Results: The study included 16 adults (seven males) with MAS. Median current age is 29 years (20, 46). Twelve of 16 had craniofacial fibrous dysplasia with five of 12 (42%) with progressive facial asymmetry. Growth hormone excess was observed in six of 16 (38%) and T3-toxicosis in five of 16 (31.3%). Six of the seven men (86%) had abnormalities on testicular ultrasound with one man exhibiting marked atrophy of germ and sertoli cells with reduction in spermatogenesis. Six of the 16 (38%) had cardiorespiratory complications including high output cardiac failure (n,3), hypertension (n,2) and one man with congestive cardiac failure and restrictive lung disease. Six of eight (66%) who had screening endoscopy for upper gastrointestinal polyps show increasing numbers of polyps, with benign histology to date. One woman with a previous history of early puberty presented with early aggressive breast carcinoma, which was positive for GNAS. Two patients had GNAS-positive muscle myomas. Platelet dysfunction with bleeding tendency responsive to platelet transfusion during surgery was seen in four.
Conclusion: A range of complex health problems is encountered in adults with MAS. These have important implications for transition of patients with MAS and adult care. Long-term cancer risk is currently unknown but requires careful follow-up.
Keywords: Bisphosphonate; café au lait; cancer; fertility; fibrous dysplasia; gastrointestinal polyps; growth hormone excess; platelet dysfunction; thyrotoxicosis.
© 2017 John Wiley & Sons Ltd.