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Review
. 2018 Feb;25(1):61-66.
doi: 10.1097/MED.0000000000000382.

Endocrine manifestations of Down syndrome

Rachel Whooten  1   2 , Jessica Schmitt  1 , Alison Schwartz  3
Affiliations
Review

Endocrine manifestations of Down syndrome

Rachel Whooten et al. Curr Opin Endocrinol Diabetes Obes. 2018 Feb.

Abstract

Purpose of review: To summarize the recent developments in endocrine disorders associated with Down syndrome.

Recent findings: 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.

Summary: Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

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Conflict of interest statement

Conflicts of interest

None

References

    1. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med 2017;19:439–47. - PubMed
    1. de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A 2015;167A:756–67. - PubMed
    1. Bull MJ, Committee on G. Health supervision for children with Down syndrome. Pediatrics 2011;128:393–406. - PubMed
    1. Hawli Y, Nasrallah M, El-Hajj Fuleihan G. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinol 2009;5:327–34. - PubMed

    1. Garcia-Hoyos M, Garcia-Unzueta MT, de Luis D, Valero C, Riancho JA. Diverging results of areal and volumetric bone mineral density in Down syndrome. Osteoporos Int 2017;28:965–72.

      * Assessed BMD, markers of bone accrual and resorption, and bone quality in adults with DS

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