| H01269 | |
| H number | H01269 |
| Name | Congenital hyperthyroidism |
| Description | 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 |
| Network | nt06322(H01269) TRH-TSH-TH signaling nt06531(H01269) lipid and insulin related signaling |
| Gene | TSHR [HSA:7253] [KO:K04249] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A02 ICD-10: E05.8 MeSH: C563786 C566384 OMIM: 603373 609152 |
| Reference | PMID:22371259 AUTHORS Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M TITLE Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene. JOURNAL Eur J Pediatr 171:1133-7 (2012) DOI:10.1007/s00431-012-1702-z PMID:10427147 AUTHORS Asteria C TITLE TSH receptor gene mutations and familial gestational hyperthyroidism. JOURNAL Eur J Endocrinol 141:93-4 (1999) DOI:10.1530/eje.0.1410093 PMID:20172477 AUTHORS Leung AM, Pearce EN, Braverman LE TITLE Perchlorate, iodine and the thyroid. JOURNAL Best Pract Res Clin Endocrinol Metab 24:133-41 (2010) DOI:10.1016/j.beem.2009.08.009 |