195 results match your criteria Euthyroid Hyperthyroxinemia


The Prevalence of Euthyroid Hypertriiodothyroninemia in Newly Diagnosed Multiple Myeloma and its Clinical Characteristics.

Endocr Pract 2021 Mar 13;27(3):236-240. Epub 2020 Dec 13.

Department of Endocrinology, Beijing Chao-yang Hospital, Capital Medical University, Beijing, China. Electronic address:

Objective: To evaluate the prevalence of euthyroid hypertriiodothyroninemia and/or hyperthyroxinemia and its clinical characteristics in multiple myeloma (MM) patients.

Methods: Previously untreated, newly diagnosed patients with MM were enrolled at the Beijing Chao-yang Hospital between January 2016 and December 2019. Thyroid function and clinical characteristics were analyzed. Read More

View Article and Full-Text PDF

Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function Tests.

J Endocr Soc 2021 Apr 1;5(4):bvab012. Epub 2021 Feb 1.

Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Australia.

Introduction: Discordant thyroid function tests are routinely encountered in clinical practice. Differential diagnoses include acute thyroxine (T4) ingestion, laboratory interference from heterophilic antibodies, thyroid hormone resistance, thyroid-stimulating hormone (TSH)-secreting pituitary adenomas, and T4 protein binding abnormalities. The impact of abnormal binding proteins may be less recognized since widespread use of free T4 (FT4) assays compared to older total T4 assays. Read More

View Article and Full-Text PDF

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor () Gene.

Medicina (Kaunas) 2020 Dec 15;56(12). Epub 2020 Dec 15.

Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta () gene is found. The clinical picture of RTHβ is very diverse; the most common findings are goiter and tachycardia, but the patients might be clinically euthyroid. Read More

View Article and Full-Text PDF
December 2020

A remarkable case of thyrotoxicosis initially caused by graves' disease followed by a probable TSHoma - a case report.

BMC Endocr Disord 2020 Aug 27;20(1):133. Epub 2020 Aug 27.

Department of Diabetes and Endocrinology, Beaumont Hospital and the RCSI, Dublin, Ireland.

Background: Graves' disease is the commonest cause of thyrotoxicosis whilst thyrotropin (TSH)-producing pituitary adenomas (thyrotropinomas, TSHomas) are very rare and account for just 1-2% of all pituitary adenomas. Coexistence of a TSHoma and Graves' disease has been very rarely reported. Here, we report a case of a patient whose initial presentation with primary thyrotoxicosis due to Graves' disease, was subsequently followed by a relapse of thyrotoxicosis due to a probable TSHoma. Read More

View Article and Full-Text PDF

Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.

Thyroid 2020 11 25;30(11):1681-1684. Epub 2020 Aug 25.

eSwiss Medical and Surgical Center, St. Gallen, Switzerland.

A 23-year-old man and his grandmother with hyperthyroxinemia and hypercortisolemia were heterozygous for an mutation (p. Arg218Pro), known to cause familial dysalbuminemic hyperthyroxinemia (FDH). However, serum-free cortisol levels in these individuals were normal and total cortisol concentrations fell markedly after depletion of albumin from their serum. Read More

View Article and Full-Text PDF
November 2020

Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods.

Eur J Endocrinol 2020 Jun;182(6):533-538

University of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.

Objective: Familial dysalbuminaemic hyperthyroxinaemia (FDH), most commonly due to an Arginine to Histidine mutation at residue 218 (R218H) in the albumin gene, causes artefactual elevation of free thyroid hormones in euthyroid individuals. We have evaluated the susceptibility of most current free thyroid hormone immunoassay methods used in the United Kingdom, Europe and Far East to interference by R218H FDH.

Methods: Different, one- and two-step immunoassay methods were tested, measuring free T4 (FT4) and free T3 (FT3) in 37 individuals with genetically proven R218H FDH. Read More

View Article and Full-Text PDF

Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.

Thyroid 2020 01;30(1):37-41

Endocrine Division, Quest Diagnostics Nichols Institute, San Juan Capistrano, California.

Euthyroid individuals with familial dysalbuminemic hyperthyroxinemia (FDH) have often falsely elevated serum free thyroxine (fT4) concentrations determined by different automated immunoassays. We measured serum fT4 using direct dialysis coupled with tandem mass spectrometry (fT4 DDMS) in individuals with the common gene mutation ( R218H) from 14 FDH families and compared them with results obtained by direct immunometric assay (fT4 DIMM) and free thyroxine index (fT4I). While all 14 individuals with FDH had elevated total serum T4, the fT4 measured by DIMM was elevated in 12, by fT4I in 5, and by DDMS in 1. Read More

View Article and Full-Text PDF
January 2020

Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.

J Endocrinol Invest 2020 Jan 27;43(1):31-41. Epub 2019 Jul 27.

Department of Medicine, The University of Chicago MC3090, 5841 South Maryland Avenue, Chicago, IL, 60637, USA.

There are three important thyroid hormone-binding proteins in human serum, thyroxine-binding globulin, transthyretin, and albumin. Genetic variation in these proteins can lead to altered thyroid hormone binding and abnormalities in serum tests of thyroid hormone. Importantly, patients harboring these mutations are euthyroid; thus, the recognition of these conditions is crucial to prevent unnecessary repeated testing and treatment. Read More

View Article and Full-Text PDF
January 2020

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).

Methods Mol Biol 2018 ;1801:225-240

Department of Medicine, The University of Chicago, Chicago, IL, USA.

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have consistently high TH levels and non-suppressed thyrotropin in the absence of acute illness, drugs, or alterations in TH binding proteins. Depending on the tissue, features of TH excess and deficiency may coexist, although most individuals have a euthyroid, normal metabolic state at the expense of high TH levels. Read More

View Article and Full-Text PDF
February 2019

Decreased sensitivity of thyrotropin-thyroid hormone feedback control in hypothyroid and athyreotic patients treated with levothyroxine. Is serum triiodothyronine involved?

Ann Endocrinol (Paris) 2018 Apr 9;79(2):62-66. Epub 2018 Mar 9.

Department of endocrinology, Sisters of Mercy university hospital center, medical school, university of Zagreb, Zagreb, Croatia. Electronic address:

Objectives: The search for optimal therapy for hypothyroidism is challenging and complex and is still going on. We investigated TSH-thyroid hormone feedback control in hypothyroid and athyreotic patients properly treated with levothyroxine (LT4), based on normal TSH values.

Material And Methods: We randomly selected 150 hypothyroid, 110 athyreotic and 210 euthyroid subjects, determined their serum T4, T3 and TSH values and calculated T4/TSH and T3/T4 ratios. Read More

View Article and Full-Text PDF

Puzzling thyroid function test.

BMJ Case Rep 2017 Nov 27;2017. Epub 2017 Nov 27.

Institute of Metabolic Science, University of Cambridge, Cambridge, UK.

A 13-½-year-old boy was referred to the Department of Endocrinology as a case of thyrotoxicosis for initiation of antithyroid medication. His chief complaint was a swelling in front of the neck, which was incidentally noted by his mother 2 weeks prior to presentation. He denied any history of symptoms suggestive of hyperthyroidism or ophthalmological involvement. Read More

View Article and Full-Text PDF
November 2017

Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.

Front Endocrinol (Lausanne) 2017 1;8:297. Epub 2017 Nov 1.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups. Read More

View Article and Full-Text PDF
November 2017

SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE.

Endocr Pract 2017 Nov 17;23(11):1325-1332. Epub 2017 Aug 17.

Objective: Familial dysalbuminemic hyperthyroxinemia (FDH) is caused by abnormal human serum albumin (HSA) with an increased thyroxine (T4) affinity leading to euthyroid hyperthyroxinemia. One- and 2-step immunoassays of serum samples from FDH patients (e.g. Read More

View Article and Full-Text PDF
November 2017

Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.

J Clin Endocrinol Metab 2017 09;102(9):3234-3240

Department of Medicine, The University of Chicago, Chicago, Illinois 60637.

Context: Fetuses exposed to the high thyroid hormone (TH) levels of mothers with resistance to thyroid hormone beta (RTH-β), due to mutations in the THRB gene, have low birth weight and suppressed TSH.

Objective: Determine if such exposure to high TH levels in embryonic life has a long-term effect into adulthood.

Design: Observations in humans with a parallel design on animals to obtain a preliminary information regarding mechanism. Read More

View Article and Full-Text PDF
September 2017

Directional thyroid hormone distribution via the blood stream to target sites.

Mol Cell Endocrinol 2017 Dec 28;458:16-21. Epub 2017 Feb 28.

Department of Internal Medicine, Endokrinologikum Hamburg, Hamburg, Germany. Electronic address:

Thyroid hormones are bound to three major serum transport proteins, thyroxin-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for thyroid hormones, TTR is also found in the cerebrospinal fluid and HSA is the most abundant protein in plasma. Combination defects of either a high affinity TTR or HSA variant do not compensate TBG deficiency, underscoring the dominant role of TBG among the thyroid hormone transport proteins. Read More

View Article and Full-Text PDF
December 2017

Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies.

AACE Clin Case Rep 2017 ;3(1):e22-e25

Department of Medicine, The University of Chicago, Chicago, Illinois; Department of Pediatrics and the Committee on Genetics, The University of Chicago, Chicago, Illinois.

Objective: Assay interference could be the cause of abnormal thyroid function tests. Early recognition prevents inappropriate patient management. The objective of this report is to present a case with discordant thyroid function tests in different thyroid assay platforms due to thyroid autoantibodies. Read More

View Article and Full-Text PDF
January 2017

A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH).

Endocr J 2017 Feb 30;64(2):207-212. Epub 2016 Nov 30.

Department of Internal Medicine, Keio University School of Medicine, Tokyo 160-8582, Japan.

Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition and is the most commonly inherited euthyroid hyperthyroxinemia in Caucasians. However, it is extremely rare in Asian populations. A 30-year-old Japanese woman, who was incidentally found to have apparent thyroid dysfunction, was admitted to our hospital in 2004. Read More

View Article and Full-Text PDF
February 2017

Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation.

Intern Med 2016;55(22):3295-3299. Epub 2016 Nov 15.

Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan.

Resistance to thyroid hormone (RTH) is a genetic disorder characterized by reduced tissue responsiveness to thyroid hormone. We herein describe a 60-year old man who presented with the clinical features of cardiomyopathy, diabetes mellitus and elevated thyroid hormones with unsuppressed thyroid stimulating hormone. A genetic analysis of thyroid hormone receptor (TR) revealed a missense mutation (A268D) in the TRβ gene. Read More

View Article and Full-Text PDF
January 2017

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Thyroid 2017 01 7;27(1):129-131. Epub 2016 Dec 7.

1 Department of Medicine, The University of Chicago , Chicago, Illinois.

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. Read More

View Article and Full-Text PDF
January 2017

Ten-year estimated risk of bone fracture in women with differentiated thyroid cancer under TSH-suppressive levothyroxine therapy.

Endokrynol Pol 2016 8;67(4):350-8. Epub 2016 Jul 8.

Endocrine Unit, Department of Internal Medicine, University of Genoa.

Introduction: After thyroidectomy and radioiodine therapy, patients with differentiated thyroid cancer (DTC) are indefinitely treated with levothyroxine (L-T4). Osteoporosis is a debated consequence of hypothyroxinaemia. The aim of this study was to evaluate bone mineral density (BMD) and fracture risk assessed by FRAX in a cohort of DTC women. Read More

View Article and Full-Text PDF

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

Jpn Clin Med 2016 4;7:9-13. Epub 2016 Apr 4.

Department of Endocrinology and Metabolism, Suifu Hospital, Mito, Japan; Division of Health Care Center, Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Mito, Japan.

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. Read More

View Article and Full-Text PDF

Inherited defects of thyroxine-binding proteins.

Best Pract Res Clin Endocrinol Metab 2015 Oct 30;29(5):735-47. Epub 2015 Sep 30.

The University of Chicago, MC3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address:

Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxine-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatment. Read More

View Article and Full-Text PDF
October 2015

Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis.

Ann Clin Biochem 2016 Jul 13;53(Pt 4):504-7. Epub 2015 Jul 13.

Biochemistry Department, Canterbury Health Laboratories, Christchurch, New Zealand.

Background: Familial dysalbuminaemic hyperthyroxinaemia is an important cause of discordant thyroid function test results (due to an inherited albumin variant); however, the diagnosis can be challenging. A 51-year-old man had persistently elevated free thyroxine (T4), with discordant normal thyroid-stimulating hormone and normal free triiodothyronine. He was clinically euthyroid and had a daughter with similar thyroid function test results. Read More

View Article and Full-Text PDF

Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.

Endocrine 2015 Dec 4;50(3):689-97. Epub 2015 Jun 4.

Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrine and Metabolic Diseases, Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai, 200025, People's Republic of China.

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). However, the most common form of RTH results from minor defects in the ligand-binding domain or hinge domain of the TRβ gene, resulting in impaired T3-induced transcriptional activity, often showing mild presentation. Read More

View Article and Full-Text PDF
December 2015

A case of thyroid hormone resistance: a rare mutation.

Arq Bras Endocrinol Metabol 2014 Dec;58(9):962-6

Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal.

Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Read More

View Article and Full-Text PDF
December 2014

Maternal thyroid dysfunction during gestation, preterm delivery, and birthweight. The Infancia y Medio Ambiente Cohort, Spain.

Paediatr Perinat Epidemiol 2015 Mar 7;29(2):113-22. Epub 2015 Jan 7.

Pharmacy, University Cardenal Herrera-CEU, Valencia, Spain.

Background: Maternal clinical thyroid disorders can cause reproductive complications. However, the effects of mild thyroid dysfunctions are not yet well established. The aim was to evaluate the association of maternal thyroid function during the first half of pregnancy with birthweight and preterm delivery. Read More

View Article and Full-Text PDF

A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.

Endocr J 2015 12;62(3):251-60. Epub 2014 Dec 12.

Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan.

The syndrome of inappropriate secretion of thyrotropin (SITSH) is a hallmark of resistance to thyroid hormone (RTH) due to mutations in the β isoform of the thyroid hormone receptor (TRβ). Here, we report on a family of RTH due to a TRβ mutation (RTHβ) and presenting occasional SITSH. The proband was a 16 year-old girl with a goiter, detected at a school physical examination. Read More

View Article and Full-Text PDF
December 2015

Anesthetic experience in a clinically euthyroid patient with hyperthyroxinemia and suspected impairment of T4 to T3 conversion: a case report.

Korean J Anesthesiol 2014 Aug 26;67(2):144-7. Epub 2014 Aug 26.

Department of Anesthesiology and Pain Medicine, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwasung, Korea.

We report an anesthetic experience in a clinically euthyroid patient with hyperthyroxinemia (elevated free thyroxine, fT4 and normal 3, 5, 3'-L-triiodothyronine, T3) and suspected impairment of conversion from T4 to T3. Despite marked hyperthyroxinemia, this patient's perioperative hemodynamic profile was suspected to be the result of hypothyroidism, in reference to the presence of T4 to T3 conversion disorder. We suspected that pretreatment with antithyroid medication before surgery, surgical stress and anesthesia may have contributed to the decreased T3 level after surgery. Read More

View Article and Full-Text PDF

Lithium-induced transient euthyroid hyperthyroxinemia: a case report.

Prim Care Companion CNS Disord 2014 ;16(2)

Department of Psychiatry, University of Arkansas for Medical Sciences, Little Rock.

View Article and Full-Text PDF

[Thyroid disease caused by receptor abnormality].

Rinsho Byori 2014 Jan;62(1):60-6

Hormone receptor abnormality is a syndrome of an abnormal mechanism caused by defective receptor function in hormone action. Resistance to thyroid hormone is a syndrome in which the responsiveness of the target organ to thyroid hormone is reduced. Resistance to thyroid hormone exhibits unsuppressed thyrotropin(TSH) despite elevated free thyroxin (FT4) and free 3,5,3'-triiodothyronine (FT3), termed the syndrome of the inappropriate secretion of TSH (SITSH). Read More

View Article and Full-Text PDF
January 2014