Sze Choong Wong1, Margaret Zacharin2,3. 1. Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK. 2. Department of Endocrinology, The Royal Children's Hospital, Melbourne, VIC, Australia. 3. Centre for Hormone Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Abstract
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.
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.
Authors: Brynn E Marks; Ronan Sugrue; Wallace Bourgeois; A Lindsay Frazier; Stephan D Voss; Marc R Laufer; Catherine M Gordon; Laurie E Cohen Journal: J Endocr Soc Date: 2021-07-08