Division of Pediatric Endocrinology.
Division of General Academic Pediatrics, Department of Pediatrics.
Curr Opin Endocrinol Diabetes Obes. 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382.
To summarize the recent developments in endocrine disorders associated with Down syndrome.
Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth.
Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.
总结与唐氏综合征相关的内分泌疾病的最新进展。
目前关于唐氏综合征患者骨骼健康的研究仍表明其存在低骨量的高发率，并强调在解读双能 X 线吸收法时应考虑到身材矮小的问题。低骨密度的根本原因是一个活跃的研究领域，将影响治疗和预防措施。唐氏综合征患者在其整个生命周期中都存在甲状腺疾病的风险。目前正在探索亚临床甲状腺功能减退症的病理生理学和管理的新方法和新认识。唐氏综合征患者也有发生其他自身免疫性疾病的风险，最近的研究揭示了 21 号染色体上自身免疫调节基因表达增加的作用。最后，最近发布了唐氏综合征专用生长图表，可更好地评估生长情况。
最近的研究证实并扩展了唐氏综合征中已有的内分泌疾病，并提供了对潜在发病机制的更深入了解。
