Down Syndrome and Thyroid Function

Graber, Evan; Chacko, Elizabeth; Regelmann, Molly O.; Costin, Gertrude; Rapaport, Robert

doi:10.1016/j.ecl.2012.08.008

Cited by 58 publications

(51 citation statements)

References 51 publications

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“…10,17,18 In the present DS population, the associated autoimmune disease that was found to be relatively most frequent was alopecia, a skin manifestation that was recently reported in 6-10% of DS patients vs 1.7% in the general population. 19 HT presentation in our DS children occurred at a younger age and did not show any gender predominance, as against what was recorded in the control group.…”

Section: Discussionmentioning

confidence: 94%

“…SH was the most frequent hormonal pattern detected in our DS population, both at presentation and at re-evaluation. It has recently been reported that SH is a very common thyroid disorder in DS children, 17,18 which frequently (70% of cases) spontaneously resolves within a few years. 16 By contrast, in the present study the prevalence rate of SH remained unchanged during the time interval between HT diagnosis and biochemical reevaluation, which is not surprising considering the different composition of our cohort to that of Claret at al, 16 i.e.…”

Section: Resultsmentioning

confidence: 99%

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Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

Aversa¹,

Salerno²,

Radetti³

et al. 2015

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BACKGROUND: Studies concerning presentation and evolution over time of Hashimoto's thyroiditis (HT) in children with Down's syndrome (DS) are few, are based on limited study populations and do not include control HT groups without DS. The aim of this multicenter study was to shed further light on the relationships between DS and HT in childhood. DE-SIGN: In this retrospective study we compared thyroid function patterns at HT presentation in 2 groups of children with (group A) or without DS (group B), including 146 and 553 cases, respectively. All group A patients were subsequently re-examined after a median interval of 5.1 years in order to prospectively re-evaluate the evolution over time of thyroid function patterns in DS. RESULTS: In group A, female predominance, age at HT diagnosis and rates of familiarity for thyroid diseases were significantly lower than in group B, whilst the association with non-thyroidal autoimmune diseases was more frequent. The hormonal patterns that were most frequently found in the 2 groups were, respectively, subclinical hypothyroidism (in group A) and euthyroidism (in group B). Thyroid dysfunctions were, overall, more frequent in group A (86.3 vs 45.7%, p<0.001). At re-evaluation, DS children exhibited further deterioration of thyroid function with some cases switching towards Graves' disease (GD). CONCLUSIONS HT in DS children: a) presents earlier, is not associated with female predominance and is more frequently associated with other autoimmune diseases; b) presents only very infrequently with a euthyroid hormonal profile; c) in a limited rate of cases switches with time to GD.

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Section: Discussionmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

Aversa¹,

Salerno²,

Radetti³

et al. 2015

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“…This form of CH is insidious because it cannot be easily diagnosed and generates ambiguity as to whether it should be formally treated (Graber et al 2012). To evaluate whether thyroid supplementation would improve basic indices of mental and motor development in DS without a diagnosis of CH, Van Trotsenburg et al conducted a randomized, double-blind trial in which the investigators treated~200 neonates with DS daily with T 4 or placebo (2005).…”

Section: Early-onset Hypothyroidismmentioning

confidence: 97%

Assessing Cognitive Improvement in People with Down Syndrome: Important Considerations for Drug-Efficacy Trials

Fernandez

Reeves

2015

Cognitive Enhancement

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Experimental research over just the past decade has raised the possibility that learning deficits connected to Down syndrome (DS) might be effectively managed by medication. In the current chapter, we touch on some of the work that paved the way for these advances and discuss the challenges associated with translating them. In particular, we highlight sources of phenotypic variability in the DS population that are likely to impact performance assessments. Throughout, suggestions are made on how to detect meaningful changes in cognitive-adaptive function in people with DS during drug treatment. The importance of within-subjects evaluation is emphasized.

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“…También existe mayor frecuencia de hipertirotropinemia aislada o hipotiroidismo subclínico (25.3-60%) y de autoinmunidad tiroidea (7.5-34%). Entre 40 y 80% tiene elevaciones aisladas y leves de TSH 27 , aunque aparentemente en la mayoría de los casos esta elevación es transitoria o no evoluciona a hipotiroidismo franco 28 . Se han propuesto diversos mecanismos para explicar la disfunción tiroidea de los pacientes con síndrome de Down.…”

Section: Disfunción Tiroidea En El Paciente Con Síndrome De Downunclassified

“…Se han propuesto diversos mecanismos para explicar la disfunción tiroidea de los pacientes con síndrome de Down. Entre estos se encuentran la existencia de disfunciones del eje hipotálamo-tiroides, insensibilidad leve a TSH y bioactividad disminuida de TSH, sin que se haya corroborado ninguno de ellos 28 . El hipotiroidismo podría agravar el déficit cognitivo, el crecimiento y los factores de riesgo cardiometabólico presentes en los pacientes con síndrome de Down 29 .…”

Section: Disfunción Tiroidea En El Paciente Con Síndrome De Downunclassified

Hipotiroidismo congénito

Peón

2015

Boletín Médico del Hospital Infantil de México

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Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH.

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Down Syndrome and Thyroid Function

Cited by 58 publications

References 51 publications

Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

Assessing Cognitive Improvement in People with Down Syndrome: Important Considerations for Drug-Efficacy Trials

Hipotiroidismo congénito

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