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Related Experiment Videos

[Thyroglobulin gene abnormalities].

Akira Hishinuma1

  • 1Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321-0293.

Rinsho Byori. the Japanese Journal of Clinical Pathology
|November 22, 2005
PubMed
Summary
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Clinical case reports·2020

Thyroglobulin mutations cause congenital hypothyroidism, leading to developmental issues or goiters. Many Japanese patients were identified through neonatal screening or goiter growth, with a significant portion developing thyroid cancer, some linked to BRAF mutations.

Area of Science:

  • Endocrinology
  • Genetics
  • Pathology

Context:

  • Congenital hypothyroidism (CH) results from thyroid gland development issues or inborn errors in thyroid hormone synthesis.
  • Thyroglobulin (Tg) mutations, once thought rare causes of severe CH (cretinism), are now recognized in milder forms.
  • Neonatal screening programs have improved the identification of CH cases.

Purpose:

  • To investigate the prevalence and clinical manifestations of thyroglobulin mutations in Japanese patients with congenital hypothyroidism.
  • To identify specific thyroglobulin mutation hotspots and their geographical distribution.
  • To explore the association between thyroglobulin mutations, thyroid cancer development, and BRAF gene mutations.

Summary:

  • This study identified 54 cases from 43 families in Japan with thyroglobulin mutations causing CH.

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  • Patients presented with transient elevated thyroid-stimulating hormone (TSH) in infancy or progressive goiters.
  • Specific mutations (Cys1264Arg, Cys1077Arg) were identified as hotspots, with distinct geographical patterns.
  • Pathogenesis involves defective intracellular transport of abnormal thyroglobulin, leading to impaired hormone secretion.
  • Surgical intervention was necessary for persistent goiters, revealing thyroid cancers in 40% of cases, some with BRAF mutations.

    • Impact:

    • Highlights the significant, previously underestimated, role of thyroglobulin mutations in congenital hypothyroidism.
    • Demonstrates the utility of neonatal screening in detecting CH due to thyroglobulin defects.
    • Reveals a notable association between thyroglobulin mutations and the development of thyroid cancer, including BRAF-mutated papillary thyroid carcinoma.
    • Provides crucial insights into the genetic and molecular basis of CH and associated thyroid pathologies.