DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E, p.

The thyroid function of Graves' disease patients is aggravated by depressive personality during antithyroid drug treatment.

Background: We previously reported that depressive personality (the scores of hypochondriasis, depression and psychasthenia determined by the Minnesota Multiphasic Personality Inventory (MMPI)) and daily hassles of Graves' disease (GD) patients treated long trem with antithyroid drug (ATD) were significantly higher in a relapsed group than in a remitted group, even in the euthyroid state. The present study aims to examine the relationship among depressive personality, emotional stresses, thyroid function and the prognosis of hyperthyroidism in newly diagnosed GD patients.

Methods: Sixty-four untreated GD patients responded to the MMPI for personality traits, the Natsume's Stress Inventory for major life events, and the Hayashi's Daily Life Stress Inventory for daily life stresses before and during ATD treatment.

Type 1 and type 2 iodothyronine deiodinases in the thyroid gland of patients with 3,5,3'-triiodothyronine-predominant Graves' disease.

Objective: 3,5,3'-triiodothyronine-predominant Graves' disease (T(3)-P-GD) is characterized by a persistently high serum T(3) level and normal or even lower serum thyroxine (T(4)) level during antithyroid drug therapy. The source of this high serum T(3) level has not been clarified. Our objective was to evaluate the contribution of type 1 and type 2 iodothyronine deiodinase (D1 (or DIO1) and D2 (or DIO2) respectively) in the thyroid gland to the high serum T(3) level in T(3)-P-GD.

Effect of levo-thyroxine replacement on non-high-density lipoprotein cholesterol in hypothyroid patients.

Context: Recently, non-high-density lipoprotein cholesterol (non-HDL-C), a measure of total cholesterol minus HDL-C, has emerged as a predictor of cardiovascular disease.

Objective: We evaluated the effect of L-T4 replacement on non-HDL-C levels in patients with primary hypothyroidism.

Methods: Thirteen patients with overt hypothyroidism and 26 patients with subclinical hypothyroidism participated in the study.

Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

Context: Thyroglobulin (Tg) mutations were previously believed to be rare, resulting in congenital goitrous hypothyroidism. However, an increasing number of patients with Tg mutations, who are euthyroid to mildly hypothyroid, have been identified in Japan.

Objectives: The purpose of this study was to investigate whether the three frequently found Tg mutations, namely C1058R, C1245R, and C1977S, were caused by a founder effect.

Serum concentrations of granulocyte colony-stimulating factor (G-CSF) in antithyroid drug-induced agranulocytosis.

Granulocyte colony-stimulating factor (G-CSF) levels in serum were determined by a highly-sensitive chemiluminescent enzyme immunoassay (limit of detection, 0.5 pg/ml) in 54 patients with Graves' disease including 6 patients complicated with methimazole-induced agranulocytosis. Serum G-CSF levels in patients with Graves' disease were not different from normal subjects and did not correlate with serum FT4 level or circulating neutrophil counts.

High diagnostic value of a radioiodine uptake test with and without iodine restriction in Graves' disease and silent thyroiditis.

The necessity of iodine restriction before radioiodine uptake (RAIU) testing for differentiation of thyrotoxicosis is controversial. The present study was undertaken to investigate the effects of iodine restriction on the RAIU value, and the necessity of iodine restriction in differentiating between Graves' disease (GD) and silent thyroiditis (ST). We investigated 415 patients, 277 of whom were patients with GD who had undergone iodine restriction before RAIU [GD(+)], 66 were patients with GD who did not undergo iodine restriction [GD(-)], 61 were patients with ST who had undergone iodine restriction [ST(+)], and the remaining 11 were patients with ST who did not undergo iodine restriction [ST(-)].

Serum concentrations of remnant-like particles in hypothyroid patients before and after thyroxine replacement.

Objectives: Remnant-like particles (RLPs) reflect chylomicron remnants and very-low-density lipoprotein remnants, which are most likely to be atherogenic particles. To investigate the effect of thyroxine replacement on the metabolism of RLPs in hypothyroidism, we measured serum concentrations of RLPs during an oral fat-loading test in patients with hypothyroidism before and after thyroxine replacement.

Patients And Methods: Thirteen patients with hypothyroidism, having serum-free thyroxine (FT4) of 4.

The relationship of psychological factors to the prognosis of hyperthyroidism in antithyroid drug-treated patients with Graves' disease.

Objective: The relationship between emotional stress and the onset of hyperthyroidism has been well investigated, but the relationship between psychological factors and prognosis of antithyroid drug-treated hyperthyroidism is not well known. This study has examined not only emotional stresses but also patients' personality traits using specific tests.

Design: A prospective cohort study.