107 results match your criteria: "Thyroxine-Binding Globulin Deficiency"
A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency.
Clin Pediatr Endocrinol
November 2023
Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.
Article Synopsis
- - The case report discusses a 13-year-old male with TBG-CD who had an asymptomatic follicular adenoma that unexpectedly shrank without treatment.
- - Despite low levels of thyroxin and TBG, the patient presented with a swollen thyroid gland and a nodule detected through ultrasonography.
- - Genetic testing confirmed a variant leading to TBG deficiency; the findings suggest that monitoring via ultrasound may be sufficient for similar cases rather than immediate treatment.
Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
Endocrinol Metab (Seoul)
December 2022
Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Article Synopsis
- This study investigates TBG deficiency in five unrelated Korean adults by analyzing the SERPINA7 gene, which produces the thyroxine-binding globulin protein responsible for transporting thyroid hormones.
- Four out of the five patients were found to have SERPINA7 gene mutations, with one novel mutation identified and three cases of a previously known mutation linked to complete TBG deficiency (TBG-CDJ) in Japan.
- The research highlights the importance of accurately diagnosing TBG deficiency to avoid mismanagement, and emphasizes the need for further genetic analysis of SERPINA7 in the Korean population.
Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.
J Endocrinol Invest
April 2022
Radiation Medicine Centre, Bhabha Atomic Research Centre, TMH Annexe Building, Parel, Mumbai, 400012, India.
Article Synopsis
- * Genetic analysis revealed a specific mutation (S353Q, 354fs3X) linked to TBG deficiency and showed that one of the affected female family members had selective X-chromosomal inactivation.
- * Although initial thyroid function tests showed normal results, changes over time indicated an autoimmune cause, highlighting the need for further testing to clarify the relationship between TBG mutations and thyroid function for better diagnosis and treatment.
A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity.
Horm Res Paediatr
December 2021
Department of Pediatric Endocrinology, Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Article Synopsis
- Neonatal screening for congenital hypothyroidism (CH) globally uses T4 measurement, with the Dutch program specifically assessing TBG to minimize false positives from benign TBG deficiencies.
- A case is presented where a patient showed low T4 levels, leading to a potential false diagnosis of CH due to a rare functional TBG deficiency linked to a novel mutation in the SERPINA7 gene.
- Identifying TBG defects is crucial to avoid unnecessary and invasive follow-up tests or treatments for patients who do not actually have CH.
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Mol Genet Genomic Med
February 2021
Pediatric Department, The 1st Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Article Synopsis
- * Researchers sequenced the SERPINA7 genes of 32 individuals from 10 families, identifying 2 novel and 4 known variants, with 26 out of 30 subjects having the p.L303F variant.
- * Findings suggest that the p.L303F variant decreases protein stability and function, especially when combined with other variants, potentially leading to lower TBG secretion overall.
Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
J Endocrinol Invest
December 2020
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Shatai Road 1023, Guangzhou, 510515, Guangdong, China.
Article Synopsis
- This study investigates mutations in the TBG gene, which is crucial for transporting thyroid hormones, to understand the inherited deficiency in thyroxine-binding globulin.
- A four-generation family was examined, focusing on a female who displayed partial TBG deficiency, utilizing methods like Sanger sequencing to identify gene mutations and analyzing their effects on thyroid function.
- Findings revealed a new mutation (p.A27V) and a previously known mutation (p.L283F), both linked to lower T4 serum levels, highlighting their potential impact on thyroid health.
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
November 2019
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.
Article Synopsis
- - A novel frameshift mutation in the TBG gene was discovered in a Chinese family, resulting in complete TBG deficiency (TBG-CD) and a truncated TBG protein.
- - The patient, a 46-year-old man, showed normal thyroid hormone levels except for undetectable serum TBG, which led to further genetic analysis.
- - Additionally, a known polymorphism (-Poly (L283F)) was found in the patient's father, with a frequency of 21.37% among unrelated Han Chinese men.
Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
Gene
August 2018
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:
Article Synopsis
- The study investigates a woman with partial thyroxine-binding globulin (TBG) deficiency caused by a mutant SERPINA7 gene and explores X-chromosome inactivation and protein modeling.
- Researchers sequenced the SERPINA7 gene and found a novel mutation (p.R35W) linked to TBG-PD, along with abnormal thyroid hormone levels in the affected individual and her siblings.
- The identified mutation creates structural changes that could lead to protein misfolding, impacting hormone transport and causing the observed thyroid hormone deficiency.
TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism.
J Clin Endocrinol Metab
April 2018
TNO, Department of Child Health, Leiden, Netherlands.
Article Synopsis
- The study investigates the characteristics of thyrotropin (TSH) and free thyroxine (FT4) levels in children with congenital central hypothyroidism (CCeH), comparing those with multiple pituitary hormone deficiencies (MPHD) to those with isolated CCeH.
- Results show that TSH levels in children with CCeH follow a more U-shaped distribution and are higher in cases with MPHD compared to isolated CCeH, while FT4 levels are significantly lower in CCeH than in mild congenital hypothyroidism of thyroidal origin (CH-T).
- The findings suggest that TSH and FT4 levels can help differentiate between CCeH and CH-T,
Article Synopsis
- Congenital central hypothyroidism (CH-C) can be identified through newborn screening programs that use a thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach, but it needs to be differentiated from T4-binding globulin (TBG) deficiency.
- A study evaluated thyroid function tests of infants to see if CH-C and TBG deficiency could be reliably distinguished, analyzing data from the Northwest Regional NBS Program between 2008 and 2015.
- The results showed that while serum free T4 levels were lower in CH-C cases, there was significant overlap with TBG deficiency, suggesting that serum TBG or T3 resin uptake levels aren't useful for diagnosing CH-C,
A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.
Eur Thyroid J
July 2017
Department of Medicine, The University of Chicago, Chicago, IL, USA.
Article Synopsis
- Thyroxine-binding globulin (TBG) is essential for thyroid hormone transport, and mutations in its gene can lead to conditions like partial TBG deficiency (TBG-PD).
- A new TBG variant linked to TBG-PD was discovered in two Ashkenazi families from Chicago, affecting a 12-year-old girl with delayed puberty and a 71-year-old man with a pituitary adenoma.
- Genetic analysis revealed a specific missense mutation (c.751T>G) in the TBG gene, which results in a protein that has a reduced ability to bind thyroid hormones, leading to low serum levels despite normal levels of thyroid-stimulating hormone (TSH).
Article Synopsis
- Interpretation of thyroid hormone results requires consideration of factors like carrier proteins and potential interferences, particularly in cases where test results don't match clinical symptoms.
- Two cases are presented: one patient showed falsely low TSH due to heterophile antibodies, despite normal thyroid hormone levels, while the other had low thyroid hormones due to a hereditary TBG deficiency, which was clinically insignificant.
- The conclusion emphasizes the importance of investigating discrepancies in thyroid function tests to prevent misdiagnosis and inappropriate treatment.
First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7.
Mol Genet Metab Rep
September 2016
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.
Article Synopsis
- Thyroxine-binding globulin (TBG) is crucial for transporting thyroid hormones, and its deficiency is linked to mutations in the SERPINA7 gene on the X chromosome.
- A case study of a premature boy misdiagnosed with hypothyroidism revealed he actually had TBG deficiency due to a specific mutation in the SERPINA7 gene.
- This case highlights the importance of recognizing inherited TBG deficiency to avoid unnecessary treatments in patients with abnormal thyroid hormone levels.
[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review].
Zhonghua Er Ke Za Zhi
June 2016
Department of Pediatrics, First Affiliated Hospital of College of Medicine, Zhejiang University, Hangzhou 310003, China.
Article Synopsis
- The study aimed to explore the clinical features and genetic mutations related to thyroxine binding globulin (TBG) deficiency in twins.
- Researchers examined two children diagnosed with central hypothyroidism and found a new mutation in the SERPINA7 gene that hasn't been reported before.
- The conclusion indicated that TBG deficiency can be misdiagnosed as central hypothyroidism, as affected individuals show normal TSH levels but reduced total thyroid hormone levels in their blood.
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
J Clin Endocrinol Metab
January 2015
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.
Article Synopsis
- T4-binding globulin (TBG) is crucial for transporting thyroid hormones in the blood, and deficiencies can occur without showing significant symptoms or gene mutations in some families.
- This study investigated four families with TBG deficiency lacking recognizable mutations in the TBG gene, using advanced genetic and biochemical analyses.
- Researchers discovered a novel genetic variant near the TBG gene that reduces enhancer activity, marking the first documented case of an endocrine disorder linked to a mutation in an enhancer region.
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
February 2014
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.
Article Synopsis
- Partial thyroxine-binding globulin deficiency (TBG-PD) is a rare endocrine disorder, occurring in about 1 in 4,000 newborns, primarily inherited in an X-linked manner due to the TBG gene's location on the X chromosome.
- This study aimed to find and characterize new mutations in the Serpina7 and TTR genes in a family with TBG-PD, using various genetic analysis techniques.
- Researchers identified a novel mutation in the Serpina7 gene and a previously known mutation in the TTR gene, marking the first case of TBG-PD linked to these specific genetic changes, potentially aiding in better diagnosis and management of thyroid hormone transport issues.
Article Synopsis
- Thyroxine-binding globulin (TBG) is a protein that carries about 75% of the thyroid hormones T4 and T3, and it is encoded by the serpina7 gene located on the X chromosome.
- A deficiency in TBG can be suspected when there's low serum levels of T4 and T3 but normal thyroid-stimulating hormone (TSH) levels, often due to mutations in the serpina7 gene.
- A new variant of the serpina7 gene was identified in a family, causing a specific amino acid change that leads to undetectable TBG levels, suggesting it as the cause of TBG deficiency in the studied individual.
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan.
Clin Endocrinol (Oxf)
April 2003
Division of Endocrinology and Metabolism, Department of Medicine, Veterans General Hospital, Taipei, Taiwan, ROC.
Article Synopsis
- The study investigates thyroxine-binding globulin (TBG) deficiency in two unrelated Han Chinese males, focusing on their different mutations in the TBG gene, which is essential for transporting thyroid hormone T4.
- Both patients were diagnosed with complete TBG deficiency, confirmed by undetectable serum TBG levels, and a broader group of 75 normal individuals was analyzed for comparison.
- Genetic analysis revealed one patient had a missense mutation affecting protein structure, while the other had a nonsense mutation leading to a truncated protein, marking the first identification of such deficiencies due to genetic mutations in Taiwan.
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.
J Clin Endocrinol Metab
October 2000
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).
View Article and Find Full Text PDFPersistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency.
Pediatrics
August 1999
University of Wisconsin Children's Hospital, 600 Highland, Avenue, Madison, WI 53792, USA.
Article Synopsis
- An infant with thyroid-binding globulin (TBG) deficiency was identified through newborn screening, showing high thyroid-stimulating hormone (TSH) and low free thyroxine (fT4) levels.
- Treatment with thyroxine (T4) successfully normalized the infant's hormone levels for the first 5 years.
- After stopping T4 treatment, the infant experienced a return of hypothyroidism, indicating that TBG deficiency can sometimes require hormone therapy.
Congenital thyroxine-binding globulin deficiency detected by newborn screening for hypothyroidism.
Ann Saudi Med
November 1996
Al-Hasa Specialty Services Division, Saudi ARAMCO-Al-Hasa Health Center, Mubarraz, Saudi Arabia.
Type II glycogenosis and thyroxine binding globulin deficiency in the same family.
Funct Neurol
October 1996
Department of Neurology, University of Athens, Greece.
Article Synopsis
- An eight-member family has two female members diagnosed with juvenile acid maltase deficiency (AMD), confirmed through muscle biochemical studies.
- Biochemical tests showed reduced levels of a-glucosidase activity in the affected siblings and their parents, indicating a genetic link.
- Additionally, the family exhibited low levels of thyroxine binding globulin (TBG) in the father and daughters, suggesting a possible connection between TBG deficiency and AMD, as thyroxine may activate acid maltase.
Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta.
Exp Clin Endocrinol Diabetes
February 1997
Third Dept. of Internal Medicine, School of Medicine, Showa University (Tokyo), Japan.
Article Synopsis
- A new nonsense mutation was found in a 16-year-old male with mild thyroid hormone resistance and a related thyroxine binding globulin deficiency.
- This case highlights that not all TR beta gene mutations lead to serious hormone resistance, as seen in patients with substantial receptor truncations.
High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
Isr J Med Sci
August 1995
Pediatric Endocrine Unit, Soroka University Hospital, Beer Sheva, Israel.
Article Synopsis
- A study over 2 years revealed a high prevalence of thyroxine-binding globulin deficiency in Bedouin newborns from the Negev area in southern Israel.
- This deficiency is notably higher than that found in other populations and is more common than congenital hypothyroidism in this group.
- Analysis of four patients indicated the possibility of at least two distinct mutations contributing to this condition among the Bedouin population.