Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Familial thyroxine-binding globulin deficiency associated with hyperthyroidism

K Tojo1, Y Miura, Y Mori

  • 1Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.

Internal Medicine (Tokyo, Japan)
|May 1, 1995
PubMed
Summary

Familial thyroxine-binding globulin deficiency can present with hyperthyroidism. Genetic analysis confirmed a mutation common in Japanese individuals with complete TBG deficiency.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Differentiation-inducing activity of retinoic acid isomers and their oxidized analogs on human promyelocytic leukemia HL-60 cells.

Biochemical and biophysical research communications·1992
Same author

Synthesis and antiviral activity of deoxy analogs of 1-[(2-hydroxyethoxy)methyl]-6-(phenylthio)thymine (HEPT) as potent and selective anti-HIV-1 agents.

Journal of medicinal chemistry·1992
Same author

Substance P induces intracellular calcium increase and translocation of protein kinase C in epidermis.

The British journal of dermatology·1992
Same author

Interleukin-2 production by primary adult T cell leukemia tumor cells is macrophage dependent.

American journal of hematology·1992
Same author

Deletion of mitochondrial DNA in the endomyocardial biopsy sample from a patient with Kearns-Sayre syndrome.

European heart journal·1992
Same author

Entrainment to external Ca2+ oscillation in ionophore-treated Physarum plasmodium.

Cell structure and function·1992

Area of Science:

  • Endocrinology
  • Genetics
  • Thyroidology

Background:

  • Familial thyroxine-binding globulin (TBG) deficiency is a rare genetic disorder affecting thyroid hormone transport.
  • Hyperthyroidism can be associated with TBG deficiency, presenting diagnostic challenges.

Observation:

  • A 24-year-old woman presented with hyperthyroidism and extremely low serum thyroxine-binding globulin (TBG) levels.
  • Thyroid-stimulating hormone (TSH)-binding inhibitor immunoglobulin (TBII) was negative, but thyroid-stimulating antibody (TSAb) was positive.
  • Low TBG levels persisted despite methimazole treatment for hyperthyroidism, and were also noted in the patient's mother.

Findings:

  • Genetic analysis identified a single nucleotide deletion in the TBG gene, consistent with complete TBG deficiency (TBG-CD).

Related Experiment Videos

  • This specific mutation is prevalent among the Japanese population with TBG-CD.
  • The patient's clinical presentation and genetic findings confirm familial TBG deficiency as the cause of her thyroid dysfunction.

    • Implications:

    • This case highlights the importance of considering genetic TBG deficiency in the differential diagnosis of hyperthyroidism, especially in familial contexts.
    • Accurate diagnosis requires genetic confirmation, as standard thyroid function tests can be misleading.
    • Understanding the genetic basis of TBG deficiency is crucial for appropriate patient management and genetic counseling.