Pediatric Endocrine Division, Department of Pediatrics.
Endocrine Division, Department of Medicine.
Curr Opin Endocrinol Diabetes Obes. 2021 Feb 1;28(1):64-74. doi: 10.1097/MED.0000000000000588.
Williams syndrome is a multisystem disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with Williams syndrome. This review describes the current literature regarding growth, body composition, and endocrine issues in Williams syndrome with recommendations for surveillance and management by the endocrinologist, geneticist, or primary care physician.
In addition to known abnormalities in stature, calcium metabolism, and thyroid function, individuals with Williams syndrome are increasingly recognized to have low bone mineral density, increased body fat, and decreased muscle mass. Furthermore, recent literature identifies a high prevalence of diabetes and obesity starting in adolescence, and, less commonly, a lipedema phenotype in both male and female individuals. Understanding of the mechanisms by which haploinsufficiency of genes in the Williams syndrome-deleted region contributes to the multisystem phenotype of Williams syndrome continues to evolve.
Multiple abnormalities in growth, body composition, and endocrine axes may manifest in individuals with Williams syndrome. Individuals with Williams syndrome should have routine surveillance for these issues in either the primary care setting or by an endocrinologist or geneticist.
威廉姆斯综合征是一种由 7q 染色体微缺失引起的多系统疾病。在婴儿期、儿童期和成年期，患有威廉姆斯综合征的个体可能会出现身体成分和多个内分泌轴的异常。本综述描述了目前关于威廉姆斯综合征的生长、身体成分和内分泌问题的文献，并为内分泌学家、遗传学家或初级保健医生提出了监测和管理的建议。
除了已知的身高、钙代谢和甲状腺功能异常外，患有威廉姆斯综合征的个体越来越被认为存在骨密度降低、体脂增加和肌肉量减少。此外，最近的文献表明，青春期开始就有较高的糖尿病和肥胖患病率，并且在男性和女性中较少见的脂肪营养不良表型。对威廉姆斯综合征缺失区域中基因单倍剂量不足如何导致威廉姆斯综合征多系统表型的机制的理解仍在不断发展。
生长、身体成分和内分泌轴的多种异常可能在威廉姆斯综合征患者中表现出来。患有威廉姆斯综合征的个体应在初级保健环境中或由内分泌学家或遗传学家定期监测这些问题。
