Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
MONDO:0700478A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
2 clinical trials for this condition and its sub-types, 1 tagged with Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
-
Scientists watch thyroid conditions unfold in 2,500 patients
Knowledge-focused Recruiting nowThis study follows up to 2,500 people with thyroid problems like hyperthyroidism, hypothyroidism, or Graves' disease. Researchers will track how these conditions develop over time using standard medical tests and genetic samples. The goal is to better understand the natural histo…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
-
New study aims to unlock mysteries of rare thyroid condition
Knowledge-focused Recruiting nowThis observational study will enroll 150 people to better understand thyroid hormone resistance syndromes, rare conditions where the body does not respond properly to thyroid hormone. Researchers will use genetic testing, blood analysis, and lab-grown cells to find better ways to…
Sponsor: Istituto Auxologico Italiano • Aim: Knowledge-focused
Last updated Jun 26, 2026 12:55 UTC