ArticleAnnals of pediatric endocrinology & metabolism2018
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Article in Annals of pediatric endocrinology & metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Predicting Pathogenicity ofInternational journal of molecular sciences · 2026Article
- Non-Autoimmune Hyperthyroidism Associated With a Novel Germline Mutation (D633N) in the TSH Receptor.Case reports in endocrinology · 2026Article
- Article
- Severe Phenotype of De Novo TSHR Activating Pathogenic Variants.Case reports in endocrinology · 2025Article
- Iodine and Thyroid Maternal and Fetal Metabolism during Pregnancy.Metabolites · 2023Review
- TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case ReviewJournal of clinical research in pediatric endocrinology · 2022Article
- Extrathyroidal Manifestations of Persistent Sporadic Non-Autoimmune Hyperthyroidism in a 6-Year-Old Boy: A Case Report.Life (Basel, Switzerland) · 2021Article
- An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.Annals of pediatric endocrinology & metabolism · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.
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