Endocrine Manifestations of Down Syndrome

Overview

Journal Curr Opin Endocrinol Diabetes Obes

Specialty Endocrinology

Date 2017 Nov 15

PMID 29135488

Citations 30

Authors

Rachel Whooten

Jessica Schmitt

Alison Schwartz

Affiliations

Soon will be listed here.

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.

Citing Articles

Calcineurin inhibition may prevent Alzheimer disease in people with Down syndrome.

Dohl J, Treadwell Z, Norris C, Head E Alzheimers Dement. 2025; 21(3):e70034.

PMID: 40042516 PMC: 11881635. DOI: 10.1002/alz.70034.

Hospitalizations in people with down syndrome across age groups: a population-based cohort study in Switzerland.

Gaechter P, Ebrahimi F, Kutz A, Szinnai G EClinicalMedicine. 2025; 80:103062.

PMID: 39896873 PMC: 11786777. DOI: 10.1016/j.eclinm.2024.103062.

Causes of Hospitalization in Children with Down Syndrome.

Takita S, Se A, Hoffmann G, Bunduki W, Carvalho L, Fonseca C Medicina (Kaunas). 2024; 60(9).

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Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.

Peterson J, Clarke S, Gelb B, Kasparian N, Kazazian V, Pieciak K J Am Heart Assoc. 2024; 13(19):e036214.

PMID: 39263820 PMC: 11681493. DOI: 10.1161/JAHA.124.036214.

Down Syndrome and Autoimmune Disease.

Hom B, Boyd N, Vogel B, Nishimori N, Khoshnood M, Jafarpour S Clin Rev Allergy Immunol. 2024; 66(3):261-273.

PMID: 38913142 PMC: 11422465. DOI: 10.1007/s12016-024-08996-2.

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