Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also cause the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the thyroid gland or thyroid hormones system
5A02 Thyrotoxicosis
H01269 Congenital hyperthyroidism
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06322 TRH-TSH-TH signaling
H01269 Congenital hyperthyroidism
