102 results match your criteria Thyroxine-Binding Globulin Deficiency


Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.

Mol Genet Genomic Med 2021 02 7;9(2):e1571. Epub 2021 Feb 7.

Pediatric Department, The 1st Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.

Sub-heading: Compound hemizygous variants in SERPINA7 gene.

Background: Thyroxine-binding globulin (TBG) is encoded by SERPINA7 (OMIM. 314200) which is located on Xq22. Read More

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February 2021

Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.

J Endocrinol Invest 2020 Dec 7;43(12):1703-1710. Epub 2020 Apr 7.

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Shatai Road 1023, Guangzhou, 510515, Guangdong, China.

Purpose: T4-binding globulin (TBG) is the main thyroid hormone (TH) transporter present in human serum. Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the TBG (SERPINA7) gene, which is located on the X chromosome. This study was performed to report and evaluate coding region mutations in TBG gene for partial thyroxine-binding globulin deficiency. Read More

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December 2020

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report.

World J Clin Cases 2019 Nov;7(22):3887-3894

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China.

Background: Thyroxine-binding globulin (TBG; the gene product of ) is the main transporter of thyroid hormones in humans. Mutations in the gene may lead to inherited TBG deficiency. There have been 28 reported mutations that associate with complete TBG deficiency (TBG-CD). Read More

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November 2019

Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.

Gene 2018 Aug 4;666:58-63. Epub 2018 May 4.

Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasília, Brasília, DF, Brazil; Endocrinology Unit, University Hospital of Brasília, University of Brasília, Brasília, DF, Brazil. Electronic address:

Objective: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We aim to investigate the molecular basis of partial TBG deficiency (TBG-PD) in a female, by evaluating the X-chromosome inactivation pattern as well as the mutant protein structural modeling. Read More

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Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency.

Horm Res Paediatr 2017 14;88(5):331-338. Epub 2017 Sep 14.

Background/aims: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. Read More

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A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.

Eur Thyroid J 2017 Jul 2;6(3):138-142. Epub 2017 Feb 2.

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

Background: Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein in serum. Located on the long arm of the X chromosome, () gene mutations most commonly produce inherited partial TBG deficiency (TBG-PD).

Objective: We report a novel TBG variant associated with TBG-PD identified in 2 different families of Ashkenazi origin residing in greater Chicago. Read More

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Challenges in interpretation of thyroid hormone test results.

Srp Arh Celok Lek 2016 Mar-Apr;144(3-4):200-3

Introduction: In interpreting thyroid hormones results it is preferable to think of interference and changes in concentration of their carrier proteins.

Outline Of Cases: We present two patients with discrepancy between the results of thyroid function tests and clinical status. The first case presents a 62-year-old patient with a nodular goiter and Hashimoto thyroiditis. Read More

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First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7.

Mol Genet Metab Rep 2016 Sep 11;8:13-6. Epub 2016 Jun 11.

Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran, Iran; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, MD, USA.

Background: Thyroxine-binding globulin (TBG) is the main transporter of thyroid hormones in human serum, encoded by the gene TBG (SERPINA7), located in long arm of X-chromosome (Xq21-q22). Deficiency of SERPINA7 (serum protease inhibitor, clade A [alpha-1 antiproteinase, antitrypsin], member 7) leads to inherited TBG deficiency. Several mutations have been reported in the coding and noncoding regions of SERPINA7 in association with TGB deficiency. Read More

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September 2016

[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review].

Zhonghua Er Ke Za Zhi 2016 Jun;54(6):428-32

Department of Pediatrics, First Affiliated Hospital of College of Medicine, Zhejiang University, Hangzhou 310003, China.

Objective: To investigate the clinical characteristics of twins with thyroxine binding globulin (TBG) deficiency and to find SERPINA7 gene mutations.

Method: Data(2015) related to clinical characteristics, serum biochemistry, gene mutations and pedigree of two children with TBG deficiency were collected in the First Affiliated Hospital of College of Medicine, Zhejiang University. The related literature was searched form China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2015) by using search terms "Thyroxine binding globulin deficiency, gene, mutation" . Read More

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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.

J Clin Endocrinol Metab 2015 Jan;100(1):E173-81

Departments of Medicine (A.M.F., T.P., J.F., A.P., V.T., R.E.W., A.M.D., S.R.), Pediatrics (R.E.W., S.R.), and Human Genetics (C.D.B., A.P., K.P.W., M.N.), and Committee on Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637; Department of Endocrinology and Metabolic Diseases (L.C.M.), University of Duisburg-Essen, Essen 45147, Germany; and Department of Medicine (K.W.), Weill Cornell Medical College, The Methodist Hospital, Houston, Texas 77030.

Context: T4-binding globulin (TBG), a protein secreted by the liver, is the main thyroid hormone (TH) transporter in human serum. TBG deficiency is characterized by reduced serum TH levels, but normal free TH and TSH and absent clinical manifestations. The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. Read More

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January 2015

Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene.

Horm Metab Res 2014 Feb 19;46(2):100-8. Epub 2013 Dec 19.

Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San -Martín", C1120AAR Buenos Aires, Argentina.

Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome, most familial TBG defects follow an X-linked inheritance pattern. Abnormal T4 binding to T4-binding prealbumin (TTR) is a rare cause of euthyroid hyperthyroxinemia, which is transmitted by autosomal dominant inheritance. Read More

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February 2014

A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.

Endocrine 2009 Aug 5;36(1):83-6. Epub 2009 May 5.

Portuguese Institute of Oncology of Lisbon Francisco Gentil, Lisbon, Portugal.

Thyroxine-binding globulin (TBG) carries approximately 75% of serum T4 and T3. This protein is encoded by serpina7 gene, formerly known as TBG gene, localized on X-chromosome (Xq22.2). Read More

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Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan.

Clin Endocrinol (Oxf) 2003 Apr;58(4):409-14

Division of Endocrinology and Metabolism, Department of Medicine, Veterans General Hospital, Taipei, Taiwan, ROC.

Objective: Thyroxine-binding globulin (TBG) encoded by the TBG gene on chromosome Xq22 is the major transport protein, carrying approximately 75% of circulating T4. Inherited defects in TBG are associated with three phenotypes based on the level of TBG in serum of affected hemizygous males: complete TBG deficiency (TBG-CD), partial TBG deficiency (TBG-PD) and TBG excess (TBG-E). In this study, we report two unrelated Han Chinese males with complete TBG deficiency who carry different mutations in the TBG gene. Read More

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A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.

J Clin Endocrinol Metab 2000 Oct;85(10):3687-9

First Department of Internal Medicine, Nagoya University School of Medicine, Japan.

T4-binding globulin (TBG) is the major thyroid hormone transport protein in human serum. Inherited TBG abnormalities do not usually alter the metabolic status and are transmitted in X-linked inheritance. A high prevalence of complete TBG deficiency (TBG-CD) has been reported among the Bedouin population in the Negev (southern Israel). Read More

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October 2000

Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency.

Pediatrics 1999 Aug;104(2 Pt 1):312-4

University of Wisconsin Children's Hospital, 600 Highland, Avenue, Madison, WI 53792, USA.

An infant diagnosed with thyroid-binding globulin (TBG) deficiency after newborn screening demonstrated persistent elevation of thyroid-stimulating hormone (TSH) and abnormally low free thyroxine (fT4) levels. Treatment with thyroxine (T4) normalized fT4 and TSH levels during the first 5 years of life, but withdrawal of T4 supplementation at that time was associated with return of hyperthyrotropinemic hypothyroidism. To our knowledge, this patient is the first reported case of TBG deficiency-associated hypothyroidism. Read More

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Congenital thyroxine-binding globulin deficiency detected by newborn screening for hypothyroidism.

Ann Saudi Med 1996 Nov;16(6):704-6

Al-Hasa Specialty Services Division, Saudi ARAMCO-Al-Hasa Health Center, Mubarraz, Saudi Arabia.

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November 1996

Type II glycogenosis and thyroxine binding globulin deficiency in the same family.

Funct Neurol 1996 Mar-Jun;11(2-3):105-10

Department of Neurology, University of Athens, Greece.

An eight-member family is presented with two female members suffering from the juvenile form of acid maltase deficiency (AMD), the diagnosis confirmed by biochemical study of muscle. Biochemical leucocyte investigation revealed reduced a-glucosidase activity in both patients, a brother and the parents. Endocrinological study of the family disclosed reduced levels of thyroxine binding globulin (TBG) in the father and the three daughters. Read More

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October 1996

Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta.

Exp Clin Endocrinol Diabetes 1996 ;104(4):339-43

Third Dept. of Internal Medicine, School of Medicine, Showa University (Tokyo), Japan.

Recent studies have revealed mutations in the thyroid hormone receptor beta (TR beta) gene as a cause of the most cases of the thyroid hormone resistance syndrome. We have identified a novel nonsense mutation in codon 449 in the 3' end of exon 10 in the TR beta gene in a 16-year-old male patient with generalized resistance to thyroid hormone who also had familial thyroxine binding globulin deficiency. Receptor protein generated from this gene is thought to be 13 amino acid deficient at carboxy-terminus. Read More

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February 1997

High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.

Isr J Med Sci 1995 Aug;31(8):500-2

Pediatric Endocrine Unit, Soroka University Hospital, Beer Sheva, Israel.

A high prevalence of thyroxine-binding globulin deficiency was found among Bedouin newborns in the Negev area (southern Israel) during a study lasting 2 years. This prevalence is significantly higher than those reported in other populations. Moreover, thyroxine-binding globulin deficiency was found to be more common than congenital hypothyroidism among the Bedouin. Read More

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Familial thyroxine-binding globulin deficiency associated with hyperthyroidism.

Intern Med 1995 May;34(5):413-7

Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.

A 24-year-old woman with familial thyroxine-binding globulin (TBG) deficiency associated with hyperthyroidism is reported. Thyroid-stimulating hormone (TSH)-binding inhibitor immunoglobulin (TBII) was negative, whereas thyroid-stimulating antibody (TSAb) was positive. Serum thyroxine-binding globulin (TBG) levels were extremely low, and remained low even after the normalization of thyroid function with methimazole (MMI) treatment. Read More

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Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family.

J Clin Endocrinol Metab 1994 Sep;79(3):740-4

First Department of Internal Medicine, Nagoya University School of Medicine, Japan.

We have previously reported a Japanese family manifesting partial TBG deficiency (TBG-PDJ). This variant was characterized by a decreased level of serum TBG concentration, heat lability, and normal isoelectric focussing pattern, but the affinity to iodothyronine is unknown. The TBG-PDJ gene possesses a single nucleotide substitution replacing the normal Pro363(CCT) with Leu(CTT); however, the precise mechanism that results in the reduction of the TBG concentration in the serum of the subjects harboring this mutation remains unknown. Read More

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September 1994

Familial dysalbuminaemic hyperthyroxinaemia and inherited partial TBG deficiency: first report.

Clin Endocrinol (Oxf) 1994 Jun;40(6):751-8

Department of Internal Medicine, Hospital Barmherzige Brüder, Graz-Eggenberg, Austria.

Background: Abnormalities of the serum thyroid hormone binding proteins are not uncommon but, when properly assessed, they do not present diagnostic difficulties. In contrast, the presence of two inherited defects of thyroid hormone transport, of the type presented in the family described here, may cause a major problem in diagnosis and has not been described previously.

Methods: All conventional thyroid function tests were carried out. Read More

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A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: a possible mechanism of complete thyroxine-binding globulin deficiency in Japanese.

J Clin Endocrinol Metab 1994 Feb;78(2):283-7

First Department of Internal Medicine, Nagoya University School of Medicine, Japan.

We have previously reported six unrelated Japanese families having the same mutation in the TBG gene and manifesting complete TBG deficiency (TBG-CDJ). The deficiency consists of a single nucleotide deletion resulting in the production of C-terminal truncation due to a frameshift and premature termination. However, the reason for the failure to detect TBG in the serum of subjects harboring this mutation remains unknown. Read More

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February 1994

Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause.

Endocr J 1993 Oct;40(5):563-9

First Department of Internal Medicine, Nagoya University, School of Medicine, Japan.

Thyroxine-binding globulin (TBG) is a major thyroid hormone transport protein in human serum. Its complete deficiency (TBG-CD) is one of inherited TBG abnormalities that transmit on X-chromosome. We previously reported a nucleotide deletion at codon 352 of the TBG gene (TBG-CDJ) in Japanese families with TBG-CD. Read More

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October 1993

Thyroxine-binding globulin deficiency detected by newborn screening.

J Pediatr 1993 Feb;122(2):227-30

Department of Pediatrics, Oregon Health Sciences University, Portland 97201.

We examined the results of the Northwest Regional Screening Program from May 1975 to June 1991 to determine the prevalence of inherited thyroxine-binding globulin (TBG) deficiency and its effect on thyroid hormone concentrations in infants. Serum thyroxine (T4), triiodothyronine resin uptake (T3RU), and thyrotropin values were requested of physicians caring for all infants with a single filter paper T4 level < 38.6 nmol/L (3 micrograms/dl) or a T4 level < 3rd percentile on two filter paper tests (at birth and 2 to 6 weeks of age). Read More

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February 1993

Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis.

Intern Med 1993 Jan;32(1):6-9

Sakuragaoka Hospitel, Hyogo, Japan.

Complete thyroxine-binding globulin deficiency (TBG-CD) was uncovered in a subject receiving a comprehensive health examination. The subject had an abnormally high T3 resin uptake. A family study showed that the TBG abnormality had been inherited by X-chromosome linkage. Read More

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January 1993

[Familial thyroxine-binding globulin deficiency].

Authors:
S Iino

Ryoikibetsu Shokogun Shirizu 1993 (1):194-5

Department of Internal Medicine, Showa University Fujigaoka Hospital.

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