Familial hyperthyroidism due to mutations in TSH receptor- MedGen UID:
- 373154
- •Concept ID:
- C1836706
- •
- Disease or Syndrome
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.
Familial gestational hyperthyroidism- MedGen UID:
- 355106
- •Concept ID:
- C1863959
- •
- Disease or Syndrome
Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).
Thyrotoxic periodic paralysis, susceptibility to, 2- MedGen UID:
- 413851
- •Concept ID:
- C2750473
- •
- Finding
Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 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.
Thyroid hormone metabolism, abnormal 1- MedGen UID:
- 1801974
- •Concept ID:
- C5676891
- •
- Finding
Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018).
Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism
THMA2 (619855) is caused by mutation in the DIO1 gene (147892) on chromosome 1p32. THMA3 (620198) is caused by mutation in the TRU-TCA1-1 gene (165060) on chromosome 19q13.