Evaluation and management of the child with hypothyroidism

Leung, Alexander K. C; Leung, Alexander A. C.

doi:10.1007/s12519-019-00230-w

Cited by 50 publications

(35 citation statements)

References 79 publications

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“…Thyroid dysgenesis (TD), the most common cause of CH, is caused by the failure of the thyroid gland to develop a normal morphology or position and encompasses the spectrum of thyroid agenesis, thyroid ectopy, and thyroid hypoplasia (8,9). Insufficient hormone production secondary to TD is mainly due to defects in genes that encode enzymes that participate in iodine organification, thyroglobulin synthesis or transport, iodine transport or iodotyrosine deiodination during thyroid hormone synthesis (10). Although gland-in-situ (GIS) with normal thyroid morphology and goiter were once thought to be present in only 20-30% of CH patients, an increase in the frequency of CH with GIS has been reported, with the incidence more than doubled to ∼1 in 1,500 live newborns, which accounted for almost two-thirds of diagnosed cases in Italy at the time (11,12).…”

Section: Introductionmentioning

confidence: 99%

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism

Wang

Zang

et al. 2020

Front. Endocrinol.

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Background: Thyroid dysgenesis (TD), which is caused by gland developmental abnormalities, is the most common cause of congenital hypothyroidism (CH). In addition, advances in diagnostic techniques have facilitated the identification of mild CH patients with a gland-in-situ (GIS) with normal thyroid morphology. Therefore, TD and GIS account for the vast majority of CH cases. Methods: Sixteen known genes to be related to CH were sequenced and screened for variations by next-generation sequencing (NGS) in a cohort of 377 CH cases, including 288 TD cases and 89 GIS cases. Results: In our CH cohort, we found that DUOX2 (21.22%) was the most commonly variant pathogenic gene, while DUOXA2 was prominent in TD (18.75%) and DUOX2 was prominent in GIS (34.83%). Both biallelic and triple variants of DUOX2 were found to be most common in children with TD and children with GIS. The most frequent combination was DUOX2 with DUOXA1 among the 61 patients who carried digenic variants. We also found for the first time that biallelic TG, DUOXA2, and DUOXA1 variants participate in the pathogenesis of TD. In addition, the variant p.Y246X in DUOXA2 was the most common variant hotspot, with 58 novel variants identified in our study. Conclusion: We meticulously described the types and characteristics of variants from sixteen known gene in children with TD and GIS in the Chinese population, suggesting that DUOXA2 and DUOX2 variants may confer susceptibility to TD and GIS via polygenic inheritance and multiple factors, which further expands the genotype-phenotype spectrum of CH in China.

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Section: Introductionmentioning

confidence: 99%

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism

Wang

Zang

et al. 2020

Front. Endocrinol.

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“…I sufficiency and euthyroidism are essential for preventing negative neurodevelopmental [130] outcomes and processing disorders [131], thus I deficiency or interference should be hazardous particularly during pregnancy and earlier stages of life given the particularly vulnerable thyroid function in this developmental phase. Conventionally, I deficiency has been defined as a 24-h urinary excretion <100 µg/L [132].…”

Section: Discussionmentioning

confidence: 99%

Interference on Iodine Uptake and Human Thyroid Function by Perchlorate-Contaminated Water and Food

et al. 2020

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Background: Perchlorate-induced natrium-iodide symporter (NIS) interference is a well-recognized thyroid disrupting mechanism. It is unclear, however, whether a chronic low-dose exposure to perchlorate delivered by food and drinks may cause thyroid dysfunction in the long term. Thus, the aim of this review was to overview and summarize literature results in order to clarify this issue. Methods: Authors searched PubMed/MEDLINE, Scopus, Web of Science, institutional websites and Google until April 2020 for relevant information about the fundamental mechanism of the thyroid NIS interference induced by orally consumed perchlorate compounds and its clinical consequences. Results: Food and drinking water should be considered relevant sources of perchlorate. Despite some controversies, cross-sectional studies demonstrated that perchlorate exposure affects thyroid hormone synthesis in infants, adolescents and adults, particularly in the case of underlying thyroid diseases and iodine insufficiency. An exaggerated exposure to perchlorate during pregnancy leads to a worse neurocognitive and behavioral development outcome in infants, regardless of maternal thyroid hormone levels. Discussion and conclusion: The effects of a chronic low-dose perchlorate exposure on thyroid homeostasis remain still unclear, leading to concerns especially for highly sensitive patients. Specific studies are needed to clarify this issue, aiming to better define strategies of detection and prevention.

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“…One of the possible key explanations for these outcomes can be the role played by the treatment. Although scientific evidence disagrees about the benefits of thyroid hormone replacement in intellectual and motor development in children with CH, it would appear that the timely intervention of levothyroxine replacement, an initial high-dose of this latter, and recurrent biochemical testing allow the achievement of normal cognitive and motor functioning levels [38,39]. Indeed, whether it is clearly recognized that untreated children with congenital hypothyroidism showed many development impairments (such as reduced intelligence quotient, behavior disorders, lesser fine and gross motor skill, lower verbal and arithmetic performance, vestibular and visuospatial impairment), and although cognitive and motor impairments may also be observed in subjects treated with levothyroxine, several researchers have demonstrated that the timing of treatment initiation and an adequate therapy ensure normal growth and development outcomes [38][39][40][41][42][43].…”

Section: Discussionmentioning

confidence: 99%

Upper and Lower Limb Strength and Body Posture in Children with Congenital Hypothyroidism: An Observational Case-Control Study

Brusa

Maggio

Giustino

et al. 2020

IJERPH

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Background: Congenital hypothyroidism (CH) is an endocrine disease with a precocious significant impairment of growth and neuromotor development. Thyroid hormones are essential for central nervous system development, maturation, and myelination. Furthermore, thyroid hormone deficiency affects the function of several systems, including the musculoskeletal system. The disease has a significant incidence in the general population (1:3000–1:2000 newborns in Italy). The aim of the present study was to evaluate any differences in upper and lower limb strength, body sway, and plantar loading distribution in children with CH compared to healthy children. Methods: In this study, the case group was composed of children with CH (CHG), while the control group included healthy children (CG). Both groups comprised 19 children (CHG: female = 12; CG: female = 9). The maximum isometric handgrip strength and explosive-elastic lower limb strength were assessed with the handgrip test and the Sargent test, respectively. The stabilometric and baropodometric analyses were used to measure the Center of Pressure displacements and the plantar loading distribution between feet, respectively. The differences between groups were analyzed by a univariate analysis of covariance using as covariates weight and height with the significant level set at < 0.05. Results: We found that CHG children were shorter and thinner than CG ones (p < 0.05). No significant difference in the upper and lower limb strength was found between groups. CHG exhibited a significant greater Sway Path Length (p < 0.01) and Ellipse Surface (p < 0.05) than CG. Moreover, CHG displayed an asymmetric plantar loading distribution with a significant lower percentage in the right than in the left foot (p < 0.05). Moreover, a significant lower plantar loading percentage in the right foot of CHG than in the right foot of CG was observed (p < 0.05). Conclusions: These findings seem to suggest that CH does not affect muscle strength in early treated children. However, these patients show poor postural control ability and asymmetric plantar loading distribution. Increasing the physical activity in these children could improve their body posture.

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Evaluation and management of the child with hypothyroidism

Cited by 50 publications

References 79 publications

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism

Interference on Iodine Uptake and Human Thyroid Function by Perchlorate-Contaminated Water and Food

Upper and Lower Limb Strength and Body Posture in Children with Congenital Hypothyroidism: An Observational Case-Control Study

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