Search results for "hypothyroidism"
showing 10 items of 80 documents
Prevalence, Phenotype, and Psychosocial Well-Being in Euthyroid/Hypothyroid Thyroid-Associated Orbitopathy.
2015
At the onset of thyroid-associated orbitopathy (TAO), most patients are hyperthyroid, while scarce data are available on euthyroid/hypothyroid TAO. The aim of this study was to assess the prevalence, phenotype, and psychosocial burden of patients with initially euthyroid/hypothyroid TAO.The medical records of 461 consecutive and unselected patients with TAO followed at a specialized joint thyroid-eye clinic were analyzed within this retrospective cross-sectional study. Main outcome measures were the prevalence of initially eu- or hypothyroid TAO as well as ophthalmic signs and symptoms, disease-specific quality of life (QoL), work impairment, and rate of psychotherapy in initially eu-/hypot…
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
2013
Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel …
Left ventricular function analyzed by Doppler and echocardiographic methods in short-term hypothyroidism
1995
Abstract In conclusion, a significant reversible decrease in contractility and an impaired diastolic relaxation was demonstrated in patients with short-term hypothyroidism. This must be considered in patients with preexisting heart disease.
Thyroid hormone receptor alpha gene variants increase the risk of developing obesity and show gene-diet interactions.
2013
Thyroid hormone receptor-beta resistance has been associated with metabolic traits. THRA gene sequencing of an obese woman (index case) who presented as empirical thyroid hormone receptor-α (THRA) resistance, disclosed a polymorphism (rs12939700) in a critical region involved in TRα alternative processing.THRA gene variants were evaluated in three independent europid populations (i) in two population cohorts at baseline (n=3417 and n=2265), 6 years later (n=2139) and (ii) in 4734 high cardiovascular risk subjects (HCVR, PREDIMED trial).The minor allele of the index case polymorphism (rs12939700), despite having a very low frequency (4%), was significantly associated with higher body mass in…
Plasma concentration of asymmetric dimethylarginine, an endogenous inhibitor of nitric oxide synthase, is elevated in hyperthyroid patients.
2002
Cardiovascular manifestations are frequent findings in patients with thyroid hormone disorders. Nitric oxide (NO) plays a key role in vascular, endothelial-mediated relaxation. NO is synthesized from L-arginine by NO synthase, an enzyme inhibited by endogenous compounds, mainly asymmetric dimethylarginine [asymmetric N(G),N(G)-dimethyl-L-arginine (ADMA)]. The aim of our work was to investigate whether plasma L-arginine and dimethylarginine concentrations and NO production are altered in hypo- and hyperthyroid patients, compared with control subjects. L-arginine, ADMA and symmetric dimethylarginine were analyzed by HPLC. NO was measured as plasma nitrite plus nitrate (NO(x)) concentration by…
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis
2007
Summary Objectives Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular basis of IOD in an Israeli Arab-Muslim population and to analyse the clinical, neurological and imaging data of patients with TPO mutations followed for up to 29 years. Patients Twenty-two patients from six core families with congenital hypothyroidism (CH) and IOD living in th…
Autoimmune polyglanduläre Syndrome
2013
The autoimmune polyglandular syndrome (APS) is defined as the manifestation of at least two endocrine autoimmune diseases. In order to take the wide spectrum of components and the variations of the disease fully into account, APS is usually divided up into the rare juvenile type (APS I) and the more common adult type (APS II-IV). APS I is caused by a monogenetic mutation whereas APS II-IV has a multifactorial genesis with combination related subgroups. Early diagnosis, individual adjustment of therapy and screening of high risk patients in particular are regarded as clinically relevant. In addition to the patient's history, the diagnosis of APS encompasses serologic measurement of organ-spe…
Fetal/Neonatal Thyrotoxicosis in a Newborn From a Hypothyroid Woman With Hashimoto Thyroiditis.
2016
Context: Fetal/neonatal thyrotoxicosis is a rare but potentially life-threatening condition. It is most commonly observed in poorly controlled Graves’ disease during pregnancy. Case Description: Here we describe the first reported case of thyrotoxicosis in a fetus/newborn from a woman with Hashimoto’s thyroiditis and levothyroxine-treated hypothyroidism. Transplacental passage of stimulating TSH-receptor antibodies, measured by a cell-based bioassay, was the underlying mechanism of fetal/neonatal thyrotoxicosis even though the mother had no history of hyperthyroidism. Conclusion: Diagnosis and management of fetal hyperthyroidism can be challenging. TSH receptor antibody testing should be co…
Subclinical hypothyroidism resulting from autoimmune thyroiditis in female patients with endogenous depression.
1994
Thyroid function and presence of thyroid autoantibodies were assessed in a group of 75 consecutive female patients with mood disturbances and in a group of 38 healthy women of similar age recruited as controls. Nine patients suffered from major (endogenous) depression and 66 from minor (neurotic) depression. The individual patients had normal values of circulating thyroid hormones. Nevertheless, endogenously depressed patients had total serum triiodothyronine (M±SE=1.49±0.09 nmol/l) and both total (83.9±4.3 nmol/l) and free serum thyroxine (13.9±1.1 pmol/l) lower than in the group of minor depressed and in the group of controls (p<0.01, in both comparison). The median value of serum thyrotr…
Relationship between Thyroid Status during the First Trimester of Pregnancy and Neonatal Well-Being
2021
Iodine is an essential micronutrient for the synthesis of thyroid hormones. The proper functioning of the thyroid axis is essential for the normal development of the nervous system, especially in the first trimester of gestation. The aim of the present study was to analyze the perinatal outcomes, anthropometry, and APGAR test scores of newborns and to relate them to maternal thyroid status. A total of 190 newborns participated in the study. No correlation was found between thyroid stimulating hormone (TSH) and maternal ioduria values in the first trimester of gestation with the weight or length of the newborn, or the APGAR score at one minute after birth. However, we found significant diffe…