Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK.
Department of Endocrinology, The Royal Children's Hospital, Melbourne, VIC, Australia.
Clin Endocrinol (Oxf). 2017 Nov;87(5):627-634. doi: 10.1111/cen.13419. Epub 2017 Aug 8.
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.
Our objective is to report comprehensive health outcomes of adults with MAS (>18 years).
Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range).
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.
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.
McCune-Albright 综合征（MAS）与许多健康问题相关。患有 MAS 的成年人的全面长期健康问题在文献中定义不明确。
我们的目的是报告 MAS 成年患者的全面健康结果。
对一名临床医生管理的 16 名 MAS 成年患者的病历进行回顾性分析。结果以中位数（范围）表示。
该研究包括 16 名 MAS 成年患者（7 名男性）。中位当前年龄为 29 岁（20 岁，46 岁）。16 名患者中有 12 名患有颅面纤维结构不良，其中 5 名（42%）存在进行性面部不对称。16 名患者中有 6 名（38%）存在生长激素过多，5 名（31.3%）存在 T3 毒性。7 名男性中有 6 名（86%）的睾丸超声异常，1 名男性表现为生殖细胞和支持细胞明显萎缩，精子生成减少。16 名患者中有 6 名（38%）存在心肺并发症，包括高输出性心力衰竭（n=3）、高血压（n=2）和 1 名充血性心力衰竭和限制性肺病患者。对 8 名患者进行上消化道息肉筛查的内镜检查显示，息肉数量不断增加，迄今为止组织学均为良性。一名有早期青春期病史的女性表现为早期侵袭性乳腺癌，该乳腺癌对 GNAS 呈阳性。两名患者有 GNAS 阳性的肌肉肌瘤。有 4 名患者存在血小板功能障碍伴出血倾向，在手术期间需要血小板输注。
患有 MAS 的成年人会遇到一系列复杂的健康问题。这对 MAS 患者的过渡和成人护理有重要影响。目前尚不清楚长期癌症风险，但需要密切随访。
