Search results for "Thyroid function"
showing 10 items of 51 documents
Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mech…
2013
Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report two novel PAX8 gene mutations (S54R and R133Q). We performed in vitro studies to functionally characterize these mutations.Using PAX8 expression vectors, we investigated whether the PAX8 mutants localized correctly to the nucleus. To analyze the DNA-binding properties of S54R and R133Q, electrophoretic mobility shift assays were performed. Furthermore, we measured whether the mutant PAX8 proteins were able to activate the thyroglobulin (TG)- an…
Hypothyroidism in patients treated with radiotherapy for head and neck carcinoma: standardised long-term follow-up study
2016
AbstractObjective:Hypothyroidism is a common complication when radiotherapy is part of the treatment for head and neck tumours. This study aimed to show the incidence of hypothyroidism and possible risk factors in these patients.Methods:Factors related to the population, tumour, treatment and occurrence of hypothyroidism were analysed in 241 patients diagnosed with head and neck carcinoma.Results:Approximately 53 per cent of patients were diagnosed with radiation-induced hypothyroidism. Its occurrence was related to: tumour location, laryngeal surgery type, neck dissection type, post-operative complications, cervical radiotherapy and radiotherapy unit type (linear particle accelerator or te…
Thyroid Function in Early Pregnancy, Child IQ, and Autistic Traits: A Meta-Analysis of Individual Participant Data
2018
Context: Low maternal free T4 (FT4) has been associated with poor child neurodevelopment in some single-center studies. Evidence remains scarce for the potential adverse effects of high FT4 and whether associations differ in countries with different iodine status. Objective: To assess the association of maternal thyroid function in early pregnancy with child neurodevelopment in countries with a different iodine status. Design, Setting, and Participants: Meta-analysis of individual participant data from 9036 mother–child pairs from three prospective population-based birth cohorts: INMA [Infancia y Medio Ambiente (Environment and Childhood project) (Spain)], Generation R (Netherlands), and AL…
Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.
1997
Resistance to thyroid hormone (RTH) is an inherited defect manifesting as variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TR beta) gene. Up to now 78 mutations in this gene have been identified, mostly clustered in two regions located in exon 9 and 10. We describe a new point mutation replacing the normal thymidine-1274 with a cytosine that results in the substitution of the normal leucine-330 with a serine (L330S) in the receptor protein. This mutation was identified in an 11-year-old boy who presented with symptoms and signs suggestive of both hyperthyroidism and hypothyroidism. Interestingly a mutation in the same c…
Thyroid autoimmunity and dysfunction in multiple sclerosis patients during long-term treatment with interferon beta or glatiramer acetate: an Italian…
2014
Few long-term follow-up data are available on thyroid dysfunction (TD) in multiple sclerosis (MS) patients treated with glatiramer acetate (GA) or with interferon-beta (IFNb). In a cohort of 787 relapsing-remitting MS (RRMS) patients whom were followed up for 8 years, we observed an increased prevalence of TD and thyroid autoimmunity (TA) within the first year of IFNb treatment, regardless of the dose or frequency of administration, while no change was observed with GA treatment. The increased prevalence of TD and TA within the first year of IFNb treatment suggested the need for close monitoring of thyroid function and autoimmunity, though only during the first year of IFNb treatment. © Th…
Abnormal thyroid hormones and non-thyroidal illness syndrome in obstructive sleep apnea, and effects of CPAP treatment
2016
Objective In obstructive sleep apnea (OSA), while both hypothyroidism and hyperthyroidism have been studied, the occurrence of non-thyroidal illness syndrome (NTIS) (normal thyroid stimulating hormone [TSH] with low triiodotironine) has not been investigated. We explored the occurrence of NTIS in patients with moderate to severe OSA and its relationship to the severity of nocturnal respiratory disorders. We also studied the occurrence of subclinical hypothyroidism (SH, ie, high TSH with normal thyroxine) in OSA and changes in circulating TSH, free triiodotironine (fT3) and free thyroxine (fT4) after CPAP treatment. Methods After a nocturnal respiratory polysomnography, 125 consecutive patie…
Clinical relevance of thyroid-stimulating autoantibodies in pediatric graves' disease-a multicenter study.
2014
Context and Objective: The incidence of TSH receptor (TSHR) stimulating autoantibodies (TSAbs) in pediatric Graves' disease (GD) is controversial. This large, multicenter study evaluated the clinical relevance of TSAbs in children with GD both with Graves' orbitopathy (GO) and without orbital disease. Design: We conducted a cross-sectional retrospective study. Setting: Sera were collected in seven American and European academic referral centers and evaluated in a central laboratory. Patients and Samples: A total of 422 serum samples from 157 children with GD, 101 control individuals with other thyroid and nonthyroid autoimmune diseases, and 50 healthy children were studied. Main Outcome Me…
Association of Maternal Iodine Status With Child IQ: A Meta-Analysis of Individual Participant Data
2019
Abstract Context Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. Objective To study the association between maternal iodine status during pregnancy and child IQ and identify vulnerable time windows of exposure to suboptimal iodine availability. Design Meta-analysis of individual participant data from three prospective population-based birth cohorts: Generation R (Netherlands), INMA (Spain), and ALSPAC (United Kingdom); pregnant women were enrolled between 2002 and 2006, 2003 and 2008, and 1990 and 1992, respectively. Setting General community. Participa…
Sudden sensorineural hearing loss associated with inner ear lesions detected by magnetic resonance imaging.
2017
Although recent advances in magnetic resonance imaging (MRI) techniques have contributed to the detection of tiny lesions in the internal auditory canal (IAC) that may be responsible for sudden sensorineural hearing loss (SSNHL), there have been relatively few studies on the clinical characteristics of intra-labyrinthine hemorrhage (ILH) and labyrinthitis versus those regarding IAC tumors. Our purpose was to investigate the frequency of those IAC lesions on MRI and their clinical characteristics. Initial MRIs of 200 patients with SSNHL (93 men, 107 women; mean age = 48.61 years, range: 18-84 years), as well as detailed clinical histories, audiological examinations, and thyroid function, lip…
Correlation between severity of growth hormone deficiency and thyroid metabolism and effects of long-term growth hormone treatment on thyroid functio…
2013
<b><i>Background/Aim:</i></b> The significance of changes in thyroid function in children during growth hormone (GH) treatment remains uncertain. We aimed to evaluate the impact of GH replacement on thyroid status in children with idiopathic GH deficiency (GHD). <b><i>Methods:</i></b> Data of 105 GHD children (82 M, 23 F; aged 11.13 years) during a 36-month follow-up were analyzed. At diagnosis the areas under the curve of GH (AUC<sub>GH</sub>) were calculated during a GH-releasing hormone + arginine (GHRH-Arg) and insulin tolerance test. <b><i>Results:</i></b> A significant &#x0394;fT<sub>3</su…