Search results for " Hypothyroidism"

Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation

2020

Objective: To compare two methods of assessing gland size on thyroid ultrasound in newborn infants with suspected congenital hypothyroidism (CH). Methods: Images from infants with eutopic glands referred between 2007 and 2013 were evaluated blind by two sets of observers. Subjective gland size was categorised as small, borderline-small, normal, borderline-large and large. Objective gland volume, calculated as the sum of each lobe using the prolate ellipsoid formula (length x width x depth x π/6), was put into corresponding categories: <0.8, 0.81–1.0, 1.1– <2.2, 2.2–2.4 and >2.4 ml, derived from normative Scottish data. Results: Of 36 infants, permanent CH was present in 17, transie…

Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 matu…

2007

Abstract Dual oxidase 2 (DUOX2), a reduced NAD phosphate:O2 oxidoreductase flavoprotein, is a component of the thyrocyte H2O2 generator required for hormone synthesis at the apical plasma membrane. We recently identified a specific DUOX2 maturation factor (DUOXA2) that is necessary and sufficient for expression of functional DUOX2 in mammalian cell lines. We have now used a DUOXA2 reconstituted system to provide the first characterization of natural DUOX2 missense variants (Q36H, R376W, D506N) at the molecular level, analyzing their impact on H2O2 generation, trafficking, stability, folding, and DUOXA2 interaction. The Q36H and R376W mutations completely prevent routing of DUOX2 to the cell…

Ensuring Effective Prevention of Iodine Deficiency Disorders

2016

To access publisher's full text version of this article click on the hyperlink at the bottom of the page Programs initiated to prevent iodine deficiency disorders (IDD) may not remain effective due to changes in government policies, commercial factors, and human behavior that may affect the efficacy of IDD prevention programs in unpredictable directions. Monitoring and outcome studies are needed to optimize the effectiveness of IDD prevention. Although the need for monitoring is compelling, the current reality in Europe is less than optimal. Regular and systematic monitoring surveys have only been established in a few countries, and comparability across the studies is hampered by the lack o…

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

2006

Summary Objective  Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. Design  The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from genomic DNA. Patients  Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. Results  Patient A had a novel heterozygous 1 bp insertion in the THOX2 gene (ins602…

Hypothyreose, Hyperthyreose und Therapie mit Schilddrüsenhormonen: Einflüsse auf das Skelettsystem

2008

L’IPOTIROIDISMO NELLE PERSONE ANZIANE: IMPORTANZA DI UNA ADEGUATA TERAPIA SOSTITUTIVA ORMONALE

2013

La prevalenza dei disturbi della ghiandola tiroidea aumenta con l’età, soprattutto nelle donne. L’ipofunzione tiroidea conclamata in età avanzata può manifestarsi clinicamente con sintomi e segni simili alle modificazioni che normalmente accompagnano l’invecchiamento o come disturbi di altri organi. Per tale motivo, un alto indice di sospetto è essenziale per rilevare l’ipotiroidismo in anziani con comorbilità multiple, alterazioni nutrizionali e/o polifarmacoterapia. La decisione di iniziare una terapia sostitutiva ormonale nell’ipotiroidismo conclamato non è discutibile. Viceversa, esiste ancora controversia sulla decisione di trattare o non trattare l’ipotiroidismo subclinico; le raccoma…

Thyroid Disorders in Old Age

2019

Thyroid disorders are more frequent in old age, especially in women. Overt thyroid dysfunction may manifest as aging itself or as age-associated disorders of other organs. Therefore, an accurate clinical suspicion is essential for their detection in elders with multiple comorbidities, malnutrition, and chronic polypharmacy. Because chronic diseases are more prevalent in old age, nonthyroidal illness is also common in this age group. Most thyroid nodules in older persons are benign, yet a comprehensive individualized evaluation is needed in order to timely detect malignancy. While there is still debate on the decision to treat or not to treat subclinical thyroid disorders, current recommenda…

Association of Thyroid Function Test Abnormalities and Thyroid Autoimmunity With Preterm Birth A Systematic Review and Meta-analysis

2019

Preterm birth complicates 5% to 15% of births worldwide, and although it is the most important direct cause of morbidity and mortality in children younger than 5 years, no known risk factors can be identified in the majority of cases. However, overt hypothyroidism and hyperthyroidism during pregnancy are well-known risk factors for preterm birth, and as such, the purpose of this study was to assess whether thyroid function test abnormalities and thyroid peroxidase (TPO) antibody positivity were associated with preterm birth. The study conducted a systematic review on the association of thyroid function or autoimmunity with preterm birth published from database inception to March 18, 2018, w…

Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for…

2021

Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quali…

Developmental Abnormalities of the Thyroid

2016

Developmental anomalies of the thyroid gland (thyroid dysgenesis) underlie the majority of cases of congenital hypothyroidism. Only a small number of monogenic defects have been shown to result in athyreosis or orthotopic thyroid hyperplasia, whereas the commonest developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic hits in the germline and/or at the somatic level. This chapter gives a brief overview of the monogenic defects in candidate genes that have been identified so far and of the syndromes that are known to be associated with thyroid dysgenesis. In addition, we discuss gain-of-function mutations of the thyroid hormone stimu…