Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

Lavigne, Jenifer; Sharr, Christianne; Elsharkawi, Ibrahim; Ozonoff, Al; Baumer, Nicole; Brasington, Campbell K.; Cannon, Sheila; Crissman, Blythe G.; Davidson, Emily; Florez, José C.; Kishnani, Priya S.; Lombardo, Angela; Lyerly, J. G.; McDonough, Mary Ellen; Schwartz, Alison; Berrier, Kathryn L.; Sparks, Susan; Stock-Guild, Kara; Toler, Tomi L.; Vellody, Kishore; Voelz, Lauren; Skotko, Brian G.

doi:10.1002/ajmg.a.38219

Cited by 36 publications

(18 citation statements)

References 25 publications

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“…[12] Both hyper- and hypothyroidism occur frequently in patients with DS, however, hypothyroidism is more common; subclinical hypothyroidism, characterized by a normal free T4 level and elevated TSH level, occurs in 13.0% to 36.5%. [11,13] In this case report, subclinical hypothyroidism was present in our patient.…”

Section: Discussionsupporting

confidence: 51%

Down syndrome with primary thyroid diffuse large B-cell lymphoma and Hashimoto thyroiditis

Wei¹,

Zhao²,

Li³

et al. 2019

Medicine

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Rationale:Adult patients with Down syndrome (DS) commonly develop Hashimoto thyroiditis (HT). However, primary diffuse large B-cell lymphoma (DLBCL) of the thyroid is uncommon, and its simultaneous occurrence with HT is very rare. To our knowledge, coexisting DLBCL and HT in a patient with DS has not been reported in the medical literature.Patient concerns:We present a 43-year-old woman with DS who reported progressive swelling of the neck on the right side and dyspnea over the previous 1 month, with associated neck ache, hoarseness, and dysphagia. Thyroid ultrasonography and computed tomography of the neck revealed a large mass in the right lobe compressing the surrounding tissues.Diagnoses:Based on the clinical and histopathologic findings, the patient was diagnosed with coexisting primary thyroid DLBCL and HT.Interventions:A palliative unilateral thyroidectomy was performed; postoperative histopathology and immunohistochemistry revealed thyroid DLBCL and HT. The patient was scheduled for chemotherapy and targeted therapy after recovering from surgery.Outcomes:The patient died 3 weeks after surgery due to asphyxia caused by uncontrollable growth of recurrent tumor.Lessons:The coexistence of DS, primary thyroid DLBCL, and HT is very rare. There is no standardized approach to the clinical identification of primary thyroid lymphoma (PTL), making early diagnosis difficult. A multidisciplinary approach and close follow-up are needed. The mechanisms of the link between DS and PTL are poorly understood and remain to be elucidated.

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Section: Discussionsupporting

confidence: 51%

Down syndrome with primary thyroid diffuse large B-cell lymphoma and Hashimoto thyroiditis

Wei¹,

Zhao²,

Li³

et al. 2019

Medicine

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“…What is required are better efforts to organize and support existing clinical DS programs to collect and share information on medical screening, diagnostic evaluation and treatment outcomes, as routinely performed at the point of care. Recent efforts to conduct multicenter data collection and sharing using clinician input data are successfully underway (Lavigne et al, , ) and may provide the necessary mechanism for further progress if properly funded. Efforts to engage the larger community of families living with DS to participate in clinical research studies is also underway (Peprah et al, ).…”

Section: Discussionmentioning

confidence: 99%

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Capone

Chicoine

Bulova

et al. 2017

American J of Med Genetics Pt A

Self Cite

131

136

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Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight-obesity, sleep apnea, congenital heart disease, and osteopenia-osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The development of evidence-based clinical guidance will require an expanded clinical knowledge-base in order to move forward.

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“…Finally, besides obesity, DS populations show the endocrine condition of hypothyroidism, mainly as subclinical hypofunction (Graber et al, 2012;Lavigne et al, 2017). This endocrine abnormality may contribute to the increased fat accumulation in DS people because the activation of gene pathways controlling thermogenesis, glucose homeostasis, and fat oxidation can be modulated by thyroid hormones (Mullur et al, 2014).…”

Section: Peripheral Metabolic Alterations In Ds and Possible Genetic mentioning

confidence: 99%

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

et al. 2020

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Down syndrome (DS) is the most frequent chromosomal abnormality that causes intellectual disability, resulting from the presence of an extra complete or segment of chromosome 21 (HSA21). In addition, trisomy of HSA21 contributes to altered energy metabolism that appears to be a strong determinant in the development of pathological phenotypes associated with DS. Alterations include, among others, mitochondrial defects, increased oxidative stress levels, impaired glucose, and lipid metabolism, finally resulting in reduced energy production and cellular dysfunctions. These molecular defects seem to account for a high incidence of metabolic disorders, i.e., diabetes and/or obesity, as well as a higher risk of developing Alzheimer's disease (AD) in DS. A dysregulation of the insulin signaling with reduced downstream pathways represents a common pathophysiological aspect in the development of both peripheral and central alterations leading to diabetes/obesity and AD. This is further strengthened by evidence showing that the molecular mechanisms responsible for such alterations appear to be similar between peripheral organs and brain. Considering that DS subjects are at high risk to develop either peripheral or brain metabolic defects, this review will discuss current knowledge about the link between trisomy of HSA21 and defects of insulin and insulin-related pathways in DS. Drawing the molecular signature underlying these processes in DS is a key challenge to identify novel drug targets and set up new prevention strategies aimed to reduce the impact of metabolic disorders and cognitive decline.

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Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

Cited by 36 publications

References 25 publications

Down syndrome with primary thyroid diffuse large B-cell lymphoma and Hashimoto thyroiditis

Down syndrome with primary thyroid diffuse large B-cell lymphoma and Hashimoto thyroiditis

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

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