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Endocrine and musculoskeletal abnormalities in patients with Down syndrome

Nature Reviews Endocrinology volume 5, pages 327–334 (2009)Cite this article

Abstract

Down syndrome has a prevalence of one in 500 to one in 1,000 live births and is the most common cause of mental retardation. Most patients are treated in childhood and adolescence for mental or growth retardation. Studies that evaluate bone mass in Down syndrome are limited, and many are small case series in pediatric and adult populations who live either in the community or in residential institutions. Several environmental and hormonal factors contribute to low bone mineral density in such patients. Muscle hypotonia, low amounts of physical activity, poor calcium and vitamin D intakes, hypogonadism, growth retardation and thyroid dysfunction contribute to substantial impairments in skeletal maturation and bone-mass accrual that predispose these patients to fragility fractures. Here, we review indications and limitations of bone-mass measurements in children, summarize the endocrine and skeletal abnormalities in patients presenting with Down syndrome, and review studies that investigate therapeutic strategies for such patients.

Key Points

  • Down syndrome is associated with multiple endocrine disorders that affect bone integrity

  • Growth retardation, hypogonadism, poor calcium and vitamin D intakes, and muscle hypotonia are recognized risk factors for low bone density in general, and in Down syndrome in particular

  • Dual X-ray absorptiometry (DXA) of the anteroposterior spine and total body (less head) is the recommended modality for measuring BMD in children

  • Adjustment of DXA-derived BMD values for height age, bone age, or lean body mass is useful in situations of growth retardation and maturation delay

  • Compared with age-matched, healthy children, those with Down syndrome have lower BMD measurements at the spine, with mean decrements of 1 SD

  • Early, planned physical activity, adequate nutrition, and calcium and vitamin D replacement therapy are recommended to maintain bone health in children with Down syndrome

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Figure 1: Effect of bone size on dual-energy X-ray absorptiometry-derived BMD.

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Acknowledgements

The authors thank T. Ghalayini and R. El-Rassi for their assistance in conducting PubMed searches, retrieval of articles, and manuscript preparation and finalization.

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Authors and Affiliations

  1. Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon

    Yousra Hawli & Mona Nasrallah

  2. Calcium Metabolism and Osteoporosis Program at the American University of Beirut Medical Center, Beirut, Lebanon

    Ghada El-Hajj Fuleihan

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Correspondence to Ghada El-Hajj Fuleihan.

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Hawli, Y., Nasrallah, M. & Fuleihan, GH. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinol 5, 327–334 (2009). https://doi.org/10.1038/nrendo.2009.80

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