Search Results - "VAN TROTSENBURG, A. S. Paul"
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Fetal Environment Is a Major Determinant of the Neonatal Blood Thyroxine Level: Results of a Large Dutch Twin Study
Published in The journal of clinical endocrinology and metabolism (01-06-2015)“…Context: The interindividual variability in thyroid hormone function parameters is much larger than the intraindividual variability, suggesting an individual…”
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Mutations in IRS4 are associated with central hypothyroidism
Published in Journal of medical genetics (01-10-2018)“…Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence…”
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3
Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates
Published in PloS one (30-03-2018)“…Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of…”
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The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice
Published in European thyroid journal (01-10-2023)“…Transducin β-like 1 X-linked receptor 1 (TBL1XR1) is a WD40 repeat-containing protein and part of the corepressor complex SMRT/NCoR that binds to the thyroid…”
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Methimazole-induced remission rates in pediatric Graves’ disease: a systematic review
Published in European journal of endocrinology (01-08-2021)“…Objective Comparison of studies on remission rates in pediatric Graves’ disease is complicated by lack of uniformity in treatment protocols, remission…”
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2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism
Published in European thyroid journal (01-10-2018)“…Objectives: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by insufficient thyroid stimulation due to disturbed pituitary and/or…”
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TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-04-2018)“…Abstract Context In central hypothyroidism (CeH), free thyroxine (FT4) concentrations are low, whereas thyrotropin (TSH) concentrations may be low, normal, or…”
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Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval: A Systematic Review and Meta-Analysis of Individual Participant Data
Published in Thyroid (New York, N.Y.) (01-05-2024)“…Initial evaluation of the hypothalamus-pituitary-thyroid axis is done by measuring serum free thyroxine (fT4) and thyrotropin concentrations. For correct…”
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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
Published in The journal of clinical endocrinology and metabolism (01-02-2018)“…Abstract Context Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent pituitary stalk, and an…”
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Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up
Published in European journal of pediatrics (01-07-2021)“…Screening for hypo- or hyperthyroidism in adults is generally done by measuring the serum thyrotropin (thyroid-stimulating hormone, TSH) concentration. This is…”
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Prevalence and Risk Factors of Early Endocrine Disorders in Childhood Brain Tumor Survivors: A Nationwide, Multicenter Study
Published in Journal of clinical oncology (20-12-2016)“…Purpose To evaluate the prevalence of, and risk factors for, early endocrine disorders in childhood brain tumor survivors (CBTS). Patients and Methods This…”
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Mutations in TBL1X Are Associated With Central Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-12-2016)“…Context: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We…”
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2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma
Published in European thyroid journal (01-12-2022)“…At present, no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in…”
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The Severity of Congenital Hypothyroidism of Central Origin Should Not Be Underestimated
Published in The journal of clinical endocrinology and metabolism (01-02-2015)“…Context: Congenital hypothyroidism (CH) may be of thyroidal (CHT) or central origin (CHC). Worldwide, most neonatal screening programs are TSH-based and…”
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Diagnosis and Management of Central Congenital Hypothyroidism
Published in Frontiers in endocrinology (Lausanne) (09-09-2021)“…Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid…”
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Health-related quality of life in patients with early-detected central congenital hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-10-2021)“…Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone…”
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Central Congenital Hypothyroidism due to Gestational Hyperthyroidism: Detection Where Prevention Failed
Published in The journal of clinical endocrinology and metabolism (01-12-2003)“…Much worldwide attention is given to the adverse effects of maternal Graves’ disease on the fetal and neonatal thyroid and its function. However, reports…”
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Mortality in Children With Early-Detected Congenital Central Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-08-2018)“…Abstract Context Approximately 60% to 80% of patients with congenital central hypothyroidism (CH-C) have multiple pituitary hormone deficiencies (MPHDs),…”
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Pediatric Graves’ orbitopathy: a multicentre study
Published in Acta ophthalmologica (Oxford, England) (01-09-2022)“…Purpose Graves’ orbitopathy (GO) is a rare condition in children often considered to be a less severe condition than at an older age. The aim of our study was…”
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Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Published in The journal of clinical endocrinology and metabolism (08-03-2021)“…Abstract Context Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on…”
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