Thyroid Dysfunction in Down's Syndrome and Screening for Hypothyroidism in Children and Adolescents Using Capillary TSH Measurement

Murphy, Joan; Moons, Philip; Macken, S; Meehan, Judith; Roche, Edna; Mayne, Philip; O’Regan, Michael H.; Hoey, Hilary

doi:10.1515/jpem.2008.21.2.155

Cited by 23 publications

(21 citation statements)

References 23 publications

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“…Other studies have shown a female predominance of 3:1 between infancy and adolescence,11 12 although not as high as the 4.2:1 ratio described by de Vries et al in children and adolescents with Hashimoto's thyroiditis 13. As expected in this screened population, there was a low prevalence of hypothyroid symptoms, which were reported in only one third of patients.…”

Section: Discussionsupporting

confidence: 56%

Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009

McGowan

Jones²,

Brown³

et al. 2011

Archives of Disease in Childhood

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Section: Discussionsupporting

confidence: 56%

Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009

McGowan

Jones²,

Brown³

et al. 2011

Archives of Disease in Childhood

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“…Alternatives to classic phlebotomy such as finger/heel prick tests are viable, especially for detecting hypothyroidism. [21,22] The lack of referral can partly be explained by the lack of a standardised guideline outlining the process for active thyroid surveillance of children with DS. To benefit the patient, testing, as the first step in the surveillance protocol, must be followed by appropriate referral and treatment.…”

Section: Discussionmentioning

confidence: 99%

Thyroid dysfunction in a cohort of South African children with Down syndrome

et al. 2013

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Background. While international studies show thyroid dysfunction occurs more commonly in individuals with Down syndrome (DS) than in the general population, there is a paucity of available data from sub-Saharan Africa. Objectives. To document the range of thyroid function in a cohort of South African children with DS, and to assess referral and treatment practices when thyroid dysfunction was present. Methods. A retrospective file-based study of 391 children with DS seen at the genetic clinics at three Johannesburg hospitals from 2003 to 2008. Thyroid function test (TFT) results (thyroid-stimulating hormone and free thyroxine) and demographic details were collected for each child. Endocrine clinic files from two of the hospitals were reviewed for additional referral and treatment information. Results. The majority (83.6%) of children had at least one TFT, in most cases performed between the ages of 2 and 12 months. The most common form of thyroid dysfunction was subclinical hypothyroidism (SCH) (28.7%). Up to one-third of the patients, including several neonates with abnormal results, were not referred for further evaluation and were therefore not receiving the necessary treatment. Interlaboratory biochemical discrepancies and lack of population-specific reference ranges complicated the interpretation of results. The controversy surrounding whether, and how, to treat SCH influenced treatment practices. Conclusions. Thyroid dysfunction is prevalent in South African children with DS. There is an urgent need to address the laboratory biochemical discrepancies, and to establish guidelines for surveillance and treatment to prevent further irreversible neurological and physical impairment.

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“…Thyroid disorders are more common in patients with DS than in the general population and they have been estimated to range between 4 and 19.5% [4,5,6,7,8] with an increase in frequency, up to 54%, as the children age [5,9,10]. These abnormalities include congenital hypothyroidism (1-3.6%) [7,11,12,13,14], primary hypothyroidism (0.3-3.2%) [7,14,15], autoimmune thyroiditis (0.3-1.4%) [16], and subclinical hypothyroidism (12.5-32.9%) [7,10,14,15,17].…”

Section: Introductionmentioning

confidence: 99%

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

et al. 2014

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Background/Aims: The natural history of thyroid function in children with Down's syndrome is relatively unknown. We hypothesized that in these patients the occurrence of thyroid dysfunction rises during development. Methods: Thyroid function was assessed yearly in 145 children with Down's syndrome, all followed from birth up to 10 years of age. Heteroskedastic binary and ordinary logistic regression for repeated measures was used to evaluate the relationship of thyroid function with continuous time. Results: Congenital hypothyroidism was detected in 7% of cases. The probability of acquired thyroid dysfunction increased from 30% at birth to 49% at 10 years (p < 0.001). The subclinical hypothyroidism was nearly stable during the follow-up. The probability of hypothyroidism increased from 7 to 24% at 10 years (p < 0.001). Positive anti-thyroglobulin antibodies were associated with higher odds of more severe hypothyroidism (odds ratio 3.6). Positive anti-thyroid peroxidase antibodies were a better predictor of more severe hypothyroidism (odds ratio 6.1). Diffuse hypoechogenicity on thyroid ultrasound was found in 34 out of 145 children. Conclusion: The probability of thyroid dysfunction increasing during development is higher than previously reported. Such children should be carefully monitored annually to early identify thyroid dysfunction.

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Thyroid Dysfunction in Down's Syndrome and Screening for Hypothyroidism in Children and Adolescents Using Capillary TSH Measurement

Abstract: DS is associated with an increased prevalence of thyroid dysfunction, particularly in preschool children. Biochemical screening is essential and capillary whole blood TSH sampling for hypothyroidism is feasible, less invasive and acceptable.

Cited by 23 publications

References 23 publications

Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009

Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009

Thyroid dysfunction in a cohort of South African children with Down syndrome

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

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