Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science (CAMS), Beijing, China.
Front Endocrinol (Lausanne). 2021 Oct 29;12:672394. doi: 10.3389/fendo.2021.672394. eCollection 2021.
McCune-Albright syndrome is a rare disorder characterized by fibrous dysplasia, café au lait skin spots, and hyperfunctioning endocrinopathies. The coexistence of precocious puberty and growth hormone excess in McCune-Albright syndrome is rare. Both conditions can manifest as accelerated growth, and treatments can be more challenging for such patients. This study aimed to describe the clinical manifestations of combined GH excess and PP in the context of McCune-Albright syndrome and analyze the clinical features and treatments of these patients.
Clinical data from 60 McCune-Albright syndrome patients from Peking Union Medical College Hospital were obtained. The demographic characteristics, growth hormone, insulin-like growth factor-1, prolactin, alkaline phosphatase, and sex hormone levels; growth velocity; and bone age data were obtained. The growth velocity Z-score, bone age over chronological age ratio, and predicted adult height Z-score were calculated before and after treatment. Published studies and case reports were systemically searched, and data on demographic, clinical, and biochemical characteristics and treatment outcomes were obtained.
We reviewed seven patients among 60 McCune-Albright syndrome patients at Peking Union Medical College Hospital (5 female) and 39 patients (25 female) from the published literature. Six of the seven patients from Peking Union Medical College Hospital and half of the patients from the published studies were pediatric patients. These patients had increased growth velocity Z-scores and bone age over chronological age ratios. After good control of both conditions, the growth velocity Z-score and bone age over chronological age ratio decreased significantly, and the predicted adult height Z-score increased. The final heights and predicted adult height Z-scores were not impaired in patients with gigantism. All the patients had craniofacial fibrous dysplasia associated with optic and otologic complications.
McCune-Albright syndrome with growth hormone excess and precocious puberty is more common in girls. Patients have accelerated linear growth and advanced skeletal age, and early and good control of both conditions leads to a reduced growth velocity and stabilized bone age. The predicted adult and final heights are not negatively affected when growth hormone excess is diagnosed in pediatric patients.
McCune-Albright 综合征是一种罕见的疾病，其特征为纤维性骨发育不良、咖啡斑和内分泌功能亢进。McCune-Albright 综合征中同时存在性早熟和生长激素过多症较为罕见。这两种情况都表现为生长加速，对这类患者的治疗更为复杂。本研究旨在描述 McCune-Albright 综合征中生长激素过多症和性早熟合并存在的临床表现，并分析这些患者的临床特征和治疗方法。
收集北京协和医院 60 例 McCune-Albright 综合征患者的临床资料，获取患者的人口统计学特征、生长激素、胰岛素样生长因子-1、催乳素、碱性磷酸酶和性激素水平、生长速度以及骨龄数据。计算治疗前后的生长速度 Z 评分、骨龄与实际年龄比值和预测成年身高 Z 评分。系统检索已发表的研究和病例报告，获取患者的人口统计学、临床和生化特征以及治疗结局数据。
我们复习了北京协和医院 60 例 McCune-Albright 综合征患者中的 7 例（5 例为女性）和已发表文献中的 39 例（25 例为女性）。北京协和医院的 7 例患者中有 6 例和已发表研究中的半数患者为儿科患者。这些患者的生长速度 Z 评分和骨龄与实际年龄比值增加。两种疾病均得到良好控制后，生长速度 Z 评分和骨龄与实际年龄比值显著降低，预测成年身高 Z 评分增加。巨人症患者的最终身高和预测成年身高 Z 评分未受损。所有患者均有颅面纤维性骨发育不良，伴有视器和耳器并发症。
McCune-Albright 综合征伴生长激素过多症和性早熟在女性中更为常见。患者有加速的线性生长和提前的骨骼成熟，两种疾病的早期和良好控制可降低生长速度并稳定骨龄。在儿科患者中诊断出生长激素过多症时，不会对预测成年和最终身高产生负面影响。
