Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey.
Division of Pediatric Endocrinology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
Ann N Y Acad Sci. 2020 Mar;1463(1):5-8. doi: 10.1111/nyas.14310. Epub 2020 Feb 10.
McCune-Albright syndrome (MAS) is caused by postzygotic somatic activating mutations of GNAS and is classically characterized by the clinical triad of peripheral precocious puberty, café-au-lait pigmentation, and polyostotic fibrous dysplasia. It can also present with other hyperfunctioning endocrinopathies, including growth hormone excess, hyperprolactinemia, hypercortisolemia, hyperthyroidism, and renal phosphate wasting due to excess fibroblast growth factor 23. We review the clinical, biochemical, radiological, and genetic findings in a 7-year-old girl diagnosed with MAS at age 4 and then with autoimmune type 1 diabetes mellitus at age 7. While MAS is associated with hyperglycemia secondary to growth hormone excess and hypercortisolemia, an association with diabetes mellitus has not been demonstrated. We review the unique presentation of a patient with these two rare conditions.
McCune-Albright 综合征（MAS）是由合子后体激活 GNAS 突变引起的，其经典特征是外周性早熟、咖啡牛奶斑和多骨性纤维结构不良三联征。它也可能表现为其他功能性内分泌疾病，包括生长激素过多、高泌乳素血症、皮质醇过多、甲状腺功能亢进和由于成纤维细胞生长因子 23 过多导致的肾磷酸盐丢失。我们回顾了一位 7 岁女孩的临床、生化、放射学和遗传学发现，该女孩在 4 岁时被诊断为 MAS，7 岁时又被诊断为自身免疫性 1 型糖尿病。虽然 MAS 与生长激素过多和皮质醇过多引起的高血糖有关，但与糖尿病无关。我们回顾了一位同时患有这两种罕见疾病的患者的独特表现。
