Selective pituitary resistance to thyroid hormone- MedGen UID:
- 333543
- •Concept ID:
- C1840364
- •
- Disease or Syndrome
Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by Adams et al., 1994).
Thyroid hormone resistance, generalized, autosomal dominant- MedGen UID:
- 424846
- •Concept ID:
- C2937288
- •
- Disease or Syndrome
Generalized thyroid hormone resistance is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991).
Congenital nongoitrous hypothryoidism 6- MedGen UID:
- 482447
- •Concept ID:
- C3280817
- •
- Disease or Syndrome
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.
Thyroid hormone resistance, generalized, autosomal recessive- MedGen UID:
- 483749
- •Concept ID:
- C3489796
- •
- Disease or Syndrome
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.