Familial hyperthyroidism due to mutations in TSH receptor

Other Names: Familial non-immune hyperthyroidism; Nonautoimmune hyperthyroidism; Resistance to thyroid stimulating hormone

A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

100% of people have these symptoms

• Activating thyroid-stimulating hormone receptor defect

80%-99% of people have these symptoms

• Diarrhea(Watery stool)
• Goiter(Enlarged thyroid gland in neck)
• Hand tremor(Tremor of hand)
• Small for gestational age(Birth weight less than 10th percentile)
• Thyroid hyperplasia(Large thyroid)
• Thyrotoxicosis with diffuse goiter
• Weight loss

30%-79% of people have these symptoms

• Accelerated skeletal maturation(Advanced bone age)
• Agitation
• Global developmental delay
• Hyperactivity(More active than typical)
• Motor delay
• Sleep disturbance(Difficulty sleeping)

1%-4% of people have these symptoms

• Proptosis(Bulging eye)

NIH genetic and rare disease info

• NIH info on Familial hyperthyroidism due to mutations in TSH receptor

Familial hyperthyroidism due to mutations in TSH receptor is a rare disease.

Familial hyperthyroidism due to mutations in TSH receptor Resources
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