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Familial gestational hyperthyroidism
Disease definition
A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.
ORPHA:99819
Classification level: Disorder- Synonym(s): -
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: -
- ICD-10: E05.8
- OMIM: 603373
- UMLS: C1863959
- MeSH: C566384
- GARD: -
- MedDRA: -
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