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    96 results match your criteria Thyroxine-Binding Globulin Deficiency

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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, TBG (SERPINA7) 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

    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

    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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
    Endocrinol Jpn 1992 Dec;39(6):577-84
    Department of Metabolic Medicine, Kumamoto University Medical School, Japan.
    Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein. Several inherited TBG variants resulting in partial or complete TBG deficiencies have been shown to be caused by either one or two nucleotide substitutions, or one nucleotide deletion in the coding regions of the TBG gene. In this report, a Japanese female patient (proband) with hyperthyroid state, whose lower TBG levels did not return to normal under the euthyroid state after treatment was examined. Read More

    Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families.
    J Clin Endocrinol Metab 1991 Aug;73(2):262-7
    Department of Internal Medicine, Nagoya University School of Medicine, Japan.
    Complete T4-binding globulin deficiency (TBG-CD) is inherited in an X-linked fashion. A nucleotide substitution has been shown to cause this hereditary condition in caucasians of French Canadian origin. Heterogeneity in molecular mechanisms for TBG-CD has also been reported. Read More

    Graves' disease and thyroxine-binding globulin deficiency.
    Arch Intern Med 1988 Jun;148(6):1445-6
    Cattedra di Endocrinologia e Patologia Costituzionale, Universita di Parma, Italy.
    Thyroxine-binding globulin (TBG) deficiency has been frequently described in single patients and in many families. Most people with abnormal TBG concentrations are euthyroid. Cases of Graves' disease and TBG deficit have rarely been reported. Read More

    A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
    Clin Invest Med 1988 Feb;11(1):34-9
    Réseau de Médecine Génétique du Québec, Centre Hospitalier de l'Université Laval.
    Thirteen families with thyroxine-binding globulin deficiency, detected through probands screened by the Quebec Network of Genetic Medicine, were investigated. These families were divided into two groups, depending on whether hemizygous males had low or undetectable serum thyroxine-binding globulin levels. Five families belonged to the low (hypo-TBGnemic) type while the remaining 8 families belonged to the absent (a-TBGnemic) type. Read More

    Thyroxine-binding globulin deficiency re-examined.
    Clin Endocrinol (Oxf) 1988 Jan;28(1):45-50
    Endocrinology Research Group, Clinical Research Centre, Harrow, UK.
    Seven sera, previously categorised as completely deficient in thyroxine-binding globulin (TBG) by an immunoelectrophoretic technique, were re-examined with a sensitive ELISA method. Only one of the sera was confirmed completely deficient by ELISA. The remaining six contained 0. Read More

    Congenital thyroxine binding globulin deficiency: incidence and inheritance.
    Hum Genet 1987 Sep;77(1):80-4
    Ninety-nine cases of thyroxine binding globulin (TBG) deficiency (90 males and 9 females) were identified among low-T4 infants after newborn hypothyroid screening. The data indicate that inherited TBG deficiency occurs in at least 1:5,000 newborns (1:2,800 males) and that mild and more pronounced forms are found in approximately equal proportions. Genetic analysis indicates that X-linked inheritance is the usual mode with no suggestion of autosomal inheritance. Read More

    Radioelectrophoresis for determination of thyroid hormone binding abnormalities in human serum.
    J Clin Chem Clin Biochem 1987 Jul;25(7):431-5
    Institut für Medizinische Biochemie Universität Graz.
    This paper describes a rapid and accurate method for determining binding abilities of thyroid hormones to their corresponding serum proteins: prealbumin, albumin and thyroxine binding globulin. A tube cell agarose gel electrophoresis is used with radioactive labelled triiodothyronine or thyroxine. The distribution curve shows characteristic peaks for prealbumin, albumin and thyroxine binding globulin. Read More

    A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio.
    Jpn J Med 1986 May;25(2):186-90
    A 37-year-old male with total thyroxine-binding globulin (TBG) deficiency associated with Graves' disease is described. Both TBG immunoreactivity and TBG capacity were not detectable in his serum. Serum concentrations of thyroxine-binding prealbumin and albumin were normal. Read More

    Genetics and clinical significance of thyroxine binding globulin deficiency, an analysis of seven families.
    Acta Endocrinol (Copenh) 1985 May;109(1):83-9
    Seven families, ascertained through probands with undetectable levels of thyroxine binding globulin (TBG) were studied from clinical and genetic points of view. The blood levels of TBG, thyroxine binding prealbumin (TBPA), thyroid-stimulating hormone (TSH), triiodothyronine (T3), and thyroxine (T4) were determined in altogether 128 family members. The concentration of free thyroxine (FT4) was calculated from the concentrations of T4, TBG and TBPA. Read More

    [Thyroxine-binding globulin deficiency in a family].
    Nihon Naibunpi Gakkai Zasshi 1983 Sep;59(9):1213-8
    Partial thyroxine-binding globulin (TBG) deficiency in a family is described. A 43-year-old male was admitted because of the association of low thyroxine level but markedly elevated triiodothyronine resin-uptake despite his complaints of palpitation and excessive sweating. TBG was low (6 micrograms/ml) by radioimmunoassay. Read More

    Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency.
    J Clin Endocrinol Metab 1983 Sep;57(3):665-7
    Serum thyroglobulin (TG) is normally under TSH control. Serum TG levels are elevated during increased thyroid gland stimulation and suppressed by exogenous thyroid hormone. High serum TG levels are also found with thyroid gland damage and in patients with differentiated thyroid neoplasms. Read More

    Thyroid function in goitrous subjects with thyroxine binding globulin deficiency.
    Acta Endocrinol (Copenh) 1983 Apr;102(4):527-30
    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. Read More

    Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism.
    J Endocrinol Invest 1982 Jan-Feb;5(1):21-5
    During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage. Read More

    The Mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease.
    Hum Genet 1982 ;60(3):222-6
    A recombinant DNA sequence, lambda RB6, was isolated from a human X chromosome library and shown to be X-specific by hybridisation to DNA from a human-mouse somatic cell hybrid containing X as the only human chromosome. The cloned sequence was located on the long arm distal to Xq13 using a human-mouse somatic cell hybrid containing a partial human X chromosome. DNA samples isolated from control human females were digested with the restriction enzyme MspI, and analysed by "blotting" and hybridisation to the radioactive cloned DNA. Read More

    Value of the determination of "true' free thyroxine in screening the newborn with possible congenital TBG-deficiency for congenital hypothyroidism.
    Ann Clin Biochem 1981 Nov;18(Pt 6):361-3
    The results of investigation on a family after a screening programme for congenital hypothyroidism are presented. The newborn child and her father appeared to have a congenital thyroxine binding globulin deficiency. Problem regarding standard thyroid hormone tests are discussed. Read More

    Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency.
    J Clin Endocrinol Metab 1981 Nov;53(5):917-22
    The mean serum total T4 (3.2 +/- 1.0 micrograms/100 ml) and T3 levels (83 +/- 29 ng/100 ml) in eight euthyroid patients with T4-binding globulin (TBG) deficiency from two families were significantly lower than those in either the unaffected relatives (P less than 0. Read More

    [Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].
    Pediatr Med Chir 1981 Mar-Jun;3(2-3):239-42
    Thyroxine-binding globulin deficiency is a well-known condition transmitted as a X-linked dominant trait or as autosomal dominant trait. This condition is benign and hypothyroidism is never associated. Values of T4 in the serum are abnormally low, TSH values are normal, RT3U values are high. Read More

    Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins.
    Acta Paediatr Scand 1981 Mar;70(2):155-9
    Serial determinations of serum thyroxine (T4), triiodothyronine (T3), thyrotropin (TSH), thyroid hormone-binding globulin (TBG), prealbumin (TBPA) and albumin were performed in a euthyroid girl with TBG deficiency and in her mother for a period of 22 months after delivery. At 8 days old the child had a serum TBG concentration around 50% of normal level which remained essentially unchanged during infancy. Total serum T4 and T3 concentrations were low, the free serum T4, free serum T3 and serum TSH concentrations were normal. Read More

    Measurement of triiodothyronine in urine.
    Tohoku J Exp Med 1980 Dec;132(4):389-95
    A radioimmunoassay procedure to measure triiodothyronine (T3) in unextracted urine is described. One hundred microliter of T3 standards or samples were incubated with 100 microliter of T3 antiserum (1:40,000), 100 microliter of tracer 125I-T3 and 700 microliter of 0.05 M borate buffer, pH 8. Read More

    Thyroxine-binding globulin capacity and concentration evaluated from blood spots on filter-paper in a screening program for neonatal hypothyroidism.
    Clin Chem 1980 Mar;26(3):463-5
    We describe a simple method for evaluating thyroxine-binding globulin capacity and concentration from a single 1-cm blood spot on filter-paper used in a screening program for neonatal hypothyroidism. This method permits prompt diagnosis of about 90% of the infants with thyroxine-binding globulin deficiency in our abnormal low-thyroxine, low-thyrotropin population. There was excellent equivalence between results obtained by our method and by the method of Chopra et al. Read More

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