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Features include always present findings: Increased circulating T4 concentration, Hyperthyroidism, Decreased thyroid-stimulating hormone level, and Tachycardia and others; and very common findings: Goiter, Weight loss, Diarrhea, and Hand tremor and others. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 4 | Hyperthyroidism, Decreased thyroid-stimulating hormone level, Activating thyroid-stimulating hormone receptor defect |
TSHR function has not been fully characterized.
Familial gestational hyperthyroidism is associated with mutations in the TSHR gene on chromosome 14.
Genetic testing for TSHR is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 6 very common features, 4 common features.
No clinical trials have been registered for familial gestational hyperthyroidism.
2 publications have been identified in PubMed for familial gestational hyperthyroidism. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Buczyńska A (2025). [PMID: 40484893](https://pubmed.ncbi.nlm.nih.gov/40484893/). *Reviews in endocrine & metabolic disorders*. [Review / Meta-Analysis]
Nadeali Z (2025). [PMID: 40391015](https://pubmed.ncbi.nlm.nih.gov/40391015/). *Frontiers in endocrinology*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Lab test results | 2 | Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level |
Brain and nerves | 2 | Hand tremor, Agitation |
Heart and blood vessels | 1 | Tachycardia |
Growth and development | 1 | Weight loss |
Digestive system | 1 | Diarrhea |
Arms and legs | 1 | Hand tremor |
AI-curated news mentioning familial gestational hyperthyroidism
Updated May 20, 2026
A prospective observational study examines the clinical course of Graves' orbitopathy in children with newly diagnosed hyperthyroidism. The findings contribute to understanding the disease's progression and management in pediatric patients.
A case report highlights the challenges of performing coronary artery bypass grafting in patients with severe hyperthyroidism. This study contributes to understanding the surgical risks associated with this endocrine disorder.