scholarly journals Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P)

2016 ◽  
Vol 7 ◽  
pp. JCM.S38990 ◽  
Author(s):  
Yoshinori Osaki ◽  
Yoshitaka Hayashi ◽  
Yoshinori Nakagawa ◽  
Katsumi Yoshida ◽  
Hiroshi Ozaki ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Autosomal Dominant ◽  
Japanese Patients ◽  
Free Triiodothyronine ◽  
Serum Free ◽  
Albumin Gene ◽  
Dominant Disease ◽  
Euthyroid Hyperthyroxinemia ◽  
Aomori Prefecture ◽  
Tsh Levels

Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, several diagnostic steps are needed to differentiate TSH-secreting tumor or generalized resistance to thyroid hormone from FDH. We herein report a case of a Japanese man born in Aomori prefecture, with FDH caused by a mutant albumin gene (R218P). We found that a large number of FDH patients reported in Japan to date might have been born in Aomori prefecture and have shown the R218P mutation. In conclusion, FDH needs to be considered among the differential diagnoses in Japanese patients born in Aomori prefecture and showing normal TSH levels and elevated FT4 levels.

scholarly journals Misleading results from immunoassays of serum free thyroxine in the presence of rheumatoid factor

1997 ◽  
Vol 43 (6) ◽  
pp. 957-962 ◽  
Author(s):  
Anthony G W Norden ◽  
Rodwin A Jackson ◽  
Lorraine E Norden ◽  
A Jane Griffin ◽  
Margaret A Barnes ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Rheumatoid Factor ◽  
Equilibrium Dialysis ◽  
Thyroid Stimulating Hormone ◽  
Normal Serum ◽  
Free Thyroxine ◽  
Free Triiodothyronine ◽  
Serum Free ◽  
Serum Free Thyroxine ◽  
Stimulating Hormone

Abstract A novel interference with measurements of serum free thyroxine (FT4) caused by rheumatoid factor (RhF) is described. We found misleading, sometimes gross, increases of FT4 results in 5 clinically euthyroid elderly female patients with high RhF concentrations. All 5 patients had high FT4 on Abbott AxSYM® or IMx® analyzers. “NETRIA” immunoassays gave misleading results in 4 of the 5 patients; Amerlex-MAB® in 2 of 4 patients; AutoDELFIA®in 2 of the 5; and Corning ACS-180® and Bayer Diagnostics Immuno 1® in 1 of the 5. BM-ES700® system results for FT4 in these women remained within the reference range. Results for serum T4, thyroid-stimulating hormone, free triiodothyronine, thyroid-hormone-binding globulin, and FT4 measured by equilibrium dialysis were normal in all 5 patients. Drugs, albumin-binding variants, and anti-thyroid-hormone antibodies were excluded as interferences. Addition to normal serum of the RhF isolated from each of the 5 patients increased the apparent FT4 (Abbott AxSYM). Screening of 83 unselected patients demonstrated a highly significant positive correlation between FT4 (Abbott AxSYM) and RhF concentrations. Discrepant, apparently increased FT4 with a normal result for thyroid-stimulating hormone should lead to measurement of the patient’s RhF concentration.

scholarly journals Studies on Thyroid Hormone Autoantibody in Two Euthyroid Cases with Spuriously High Value of Serum Free Triiodothyronine

1992 ◽  
Vol 68 (11) ◽  
pp. 1205-1214
Author(s):  
Syoh-ichi YAMAGISHI ◽  
Hisatsugu MIYAKOSHI ◽  
Yukihiro NAGAI ◽  
Kenso OHSAWA ◽  
Ken-ichi KOBAYASHI
Keyword(s):  
Thyroid Hormone ◽  
Free Triiodothyronine ◽  
Serum Free

scholarly journals Thyroid testing paradigm switch from thyrotropin to thyroid hormones—Future directions and opportunities in clinical medicine and research

Endocrine ◽  
2021 ◽  
Vol 74 (2) ◽  
pp. 285-289
Author(s):  
Stephen P. Fitzgerald ◽  
Nigel G. Bean ◽  
James V. Hennessey ◽  
Henrik Falhammar
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Dysfunction ◽  
Clinical Medicine ◽  
Older Individuals ◽  
Free Triiodothyronine ◽  
Thyroid State ◽  
Peripheral Tissues ◽  
Hormone Levels ◽  
Thyroid Hormone Levels ◽  
Tsh Levels

Abstract Purpose Recently published papers have demonstrated that particularly in untreated individuals, clinical parameters more often associate with thyroid hormone, particularly free thyroxine (FT4), levels than with thyrotropin (TSH) levels. Clinical and research assessments of the thyroid state of peripheral tissues would therefore be more precise if they were based on FT4 levels rather than on TSH levels. In this paper we describe implications of, and opportunities provided by, this discovery. Conclusions The FT4 level may be the best single test of thyroid function. The addition of free triiodothyronine (FT3) and TSH levels would further enhance test sensitivity and distinguish primary from secondary thyroid dysfunction respectively. There are opportunities to reconsider testing algorithms. Additional potential thyroidology research subjects include the peripheral differences between circulating FT4 and FT3 action, and outcomes in patients on thyroid replacement therapy in terms of thyroid hormone levels. Previously performed negative studies of therapy for subclinical thyroid dysfunction could be repeated using thyroid hormone levels rather than TSH levels for subject selection and the monitoring of treatment. Studies of outcomes in older individuals with treatment of high normal FT4 levels, and pregnant women with borderline high or low FT4 levels would appear to be the most likely to show positive results. There are fresh indications to critically re-analyse the physiological rationale for the current preference for TSH levels in the assessment of the thyroid state of the peripheral tissues. There may be opportunities to apply these research principles to analogous parameters in other endocrine systems.

scholarly journals Elevated serum levels of free triiodothyronine in adolescent boys with gynaecomastia compared with controls

2014 ◽  
Vol 171 (2) ◽  
pp. 193-198 ◽  
Author(s):  
Mikkel G Mieritz ◽  
Kaspar Sorensen ◽  
Lise Aksglaede ◽  
Annette Mouritsen ◽  
Casper P Hagen ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Elevated Serum ◽  
Serum Levels ◽  
Adolescent Boys ◽  
Free Triiodothyronine ◽  
Pubertal Stage ◽  
Cross Sectional ◽  
Healthy Adolescent ◽  
Serum Free ◽  
Thyroid Hormone Levels

ObjectivePubertal gynaecomastia is a frequent phenomenon occurring in 20–40% of otherwise healthy adolescent boys. Little is known about the aetiology of pubertal gynaecomastia. Markedly elevated thyroid hormone levels in adults with hyperthyroidism are associated with gynaecomastia.DesignA cross-sectional examination of 444 healthy boys with and without pubertal gynaecomastia.MethodsWe evaluated TSH, triiodothyronine (T3), thyroxine (T4), free T4 and free T3 in a cohort of healthy boys with and without pubertal gynaecomastia.ResultsBoys with gynaecomastia had significantly higher serum free T3, even after correction for age, BMI and pubertal stage. After inclusion of IGF1 in the model the differences disappeared. TSH, T4, free T4 and T3 did not differ between the groups.ConclusionsWe speculate that the GH/IGF1 axis and thyroid hormones interact and influence the development of pubertal gynaecomastia.

Genetic and environmental interrelations between measurements of thyroid function in a healthy Danish twin population

2007 ◽  
Vol 292 (3) ◽  
pp. E765-E770 ◽  
Author(s):  
Pia Skov Hansen ◽  
Thomas Heiberg Brix ◽  
Ivan Iachine ◽  
Thorkild I. A. Sørensen ◽  
Kirsten Ohm Kyvik ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Function ◽  
Free Triiodothyronine ◽  
Environmental Correlations ◽  
Serum Free ◽  
Hormone Levels ◽  
Opposite Sex ◽  
Thyroid Hormone Levels ◽  
Serum Tsh ◽  
Danish Twin

Serum thyrotropin (TSH), free thyroxine (T4), and free triiodothyronine (T3) levels illustrate the thyroid function set point, but the interrelations between these have never been characterized in detail. The aim of this study was to examine the associations between TSH and thyroid hormone levels in healthy euthyroid twins and to determine the extent to which the same genes influence more than one of these biochemical traits; 1,380 healthy euthyroid Danish twins (284 monozygotic, 286 dizygotic, 120 opposite-sex twin pairs) were recruited. Genetic and environmental associations between thyroid function measurements were examined using quantitative genetic modeling. In bivariate genetic models, the phenotypic relation between two measurements was divided into genetic and environmental correlations. Free T4 and free T3 levels were positively correlated ( r = 0.32, P < 0.0001). The genetic correlation between serum free T4 and free T3 levels was rg = 0.25 (95% CI 0.14–0.35), suggesting that a set of common genes affect both phenotypes (pleiotropy). The correlation between the environmental effects was re = 0.41 (0.32–0.50). From this we calculated that the proportion of the correlation between free T4 and free T3 levels mediated by common genetic factors was 48%. Only 7% of the genetic component of serum free T3 levels is shared with serum free T4. Serum TSH and thyroid hormone levels did not share any genetic influences. In conclusion, thyroid hormone levels are partly genetically correlated genes that affect free T4 levels and exert pleiotropic effects on free T3 levels, although most of the genetic variance for these measurements is trait specific.

scholarly journals Update on resistance to thyroid hormone syndromeβ

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Hongping Sun ◽  
Lin Cao ◽  
Rendong Zheng ◽  
Shaofeng Xie ◽  
Chao Liu
Keyword(s):  
Thyroid Hormone ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Thyroid Stimulating Hormone ◽  
Target Tissue ◽  
Free Triiodothyronine ◽  
Resistance To Thyroid Hormone ◽  
Inappropriate Secretion

Abstract Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis.

Thyroid function in goitrous subjects with thyroxine binding globulin deficiency

1983 ◽  
Vol 102 (4) ◽  
pp. 527-530 ◽  
Author(s):  
F. P. Callan ◽  
M.J. Duffy ◽  
G.J. Duffy ◽  
R.J. Farrell ◽  
T.J. McKenna
Keyword(s):  
Thyroid Hormone ◽  
Protein Binding ◽  
Thyroid Activity ◽  
Free Triiodothyronine ◽  
Thyroxine Binding Globulin ◽  
The Family ◽  
Euthyroid Status ◽  
Thyroid Hormone Levels ◽  
Euthyroid Goitre ◽  
Tsh Levels

Abstract. The co-existence of thyroxine binding globulin (TBG) deficiency and euthyroid goitre in the same family raised the possibility that the disorders might be related. However, although both disorders co-existed in some members of the family, other members had either but not both conditions. These observations exclude the possibility that goitre development was solely due to alterations in thyroid activity brought about by TBG deficiency. It is possible, however, that the defect in protein binding might have enhanced goitre development in predisposed individuals as the two largest goitres occurred in TBG deficient subjects. Of the conventional parameters used to assess thyroid hormone levels in TBG deficient subjects, only the free triiodothyronine index consistently reflected the euthyroid status of these patients as established by clinical examination and TSH levels.

scholarly journals Biochemical Investigation of Foetal and Neonatal Thyroid Function Using the ACS-180SE Analyser: Clinical Application

2001 ◽  
Vol 38 (5) ◽  
pp. 520-526 ◽  
Author(s):  
Jean Guibourdenche ◽  
Michèle Noël ◽  
Didier Chevenne ◽  
Edith Vuillard ◽  
Jean Luc Voluménie ◽  
...  
Keyword(s):  
Cord Blood ◽  
Gestational Age ◽  
Treatment Efficacy ◽  
Thyroid Dysfunction ◽  
Free Triiodothyronine ◽  
Serum Free ◽  
Biochemical Investigation ◽  
Neonatal Thyroid Function ◽  
Serum Tsh ◽  
Tsh Levels

Despite sonographic detection of foetal goitre, uncertainty persists in the initial diagnosis of thyrotoxicosis and hypothyroidism. The aim of this study was to establish foetal and neonatal iodothyronine and thyrotrophin reference values for the ACS-180SE analyser. From 22 to 36 weeks of gestation, median foetal serum free thyroxine (FT4) levels increased from 6·0 pmol/L to 14·3 pmol/L, while free triiodothyronine (FT3) levels increased from 0·7 pmoI/L to 1·9 pmol/L and mean thyrotrophin (TSH) levels remained stable (10·2±3·8 mU/L; n=33). At birth, concentrations were independent of gender and gestational age. Among the 10 cases of sonographically detected foetal goitre, serum TSH and FT4 were measured in five, showing hypothyroidism (3/5) or hyperthyroidism (2/5). Cord blood TSH levels reflected the efficacy of prenatal therapy. Measurement of foetal FT4 and TSH can be used to confirm foetal thyroid dysfunction, whereas treatment efficacy can be assessed sonographically and confirmed by measurement of TSH assay at birth.

Effects of Age and Health on the Euthyroid Reference Ranges for Serum Free Thyroxine and Free Triiodothyronine

1985 ◽  
Vol 24 (02) ◽  
pp. 57-65 ◽  
Author(s):  
J. E. M. Midgley ◽  
K. R. Gruner
Keyword(s):  
Lower Limit ◽  
Healthy Subjects ◽  
Thyroid Dysfunction ◽  
Reference Range ◽  
Free Thyroxine ◽  
Reference Ranges ◽  
Free Triiodothyronine ◽  
Serum Free ◽  
Young Subjects ◽  
Age Range

SummaryAge-related trends in serum free thyroxine (FT4) and free triiodothyronine (FT3) concentrations were measured in 7248 euthyroid subjects (age-range 3 months to 106 years). 5700 were patients referred to hospitals for investigation of suspected thyroid dysfunction, but who were diagnosed euthyroid. 1548 were healthy blood donors (age-range 18-63 years) with no indication of thyroid dysfunction. FT4 concentrations were little affected by the age, the sex or the state of health of the subjects in either group. Serum FT3 concentrations were significantly affected by both age and health factors. The upper limit of the euthyroid reference range for young subjects up to 15 years was about 20% higher (10.4 pmol/1) than for adult subjects older than 25 years (8.8 pmol/1). The change in the upper limits typical of young subjects to that typical of adults occurred steadily over the decade 15–25 years. After this age, little further change occurred, especially in healthy subjects. Additionally, the lower limit of the euthyroid range for FT3 was extended by the inclusion in the reference group of patients referred to hospitals. Compared with the lower limit of the FT3 range for healthy subjects (5 pmol/1), the corresponding limit for referred subjects (young or adult) was 3.5–3.8 pmol/1. Broadening of the FT3 reference range was probably brought about by a significant number of patients in the hospital-referred group with the “1OW-T3 syndrome” of mild non-thyroidal illness. Accordingly, FT3 was inferior to FT4 in the discrimination of hypothyroidism, as FT4 was unaffected by this phenomenon. Effects of age and non-thyroidal illness on serum FT3 concentrations require great care when selecting subjects for a laboratory euthyroid reference range typical of the routine workload. Constraints on the choice of subjects for FT4 reference ranges are less stringent.

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