| H01699 | |
| H number | H01699 |
| Name | Isolated TSH deficiency |
| Description | Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant corticotropin deficiency should be excluded prior to starting therapy in order to avoid an adrenal crisis. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | TSHB [HSA:7252] [KO:K05251] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Paricalcitol [DR:D00930] |
| Comment | See also H00250 Congenital nongoitrous hypothyroidism (CHNG). |
| Other DBs | ICD-11: 5A61.4 ICD-10: E23.0 MeSH: C536917 OMIM: 275100 |
| Reference | PMID:15292359 AUTHORS Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J TITLE Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. JOURNAL J Clin Endocrinol Metab 89:4136-41 (2004) DOI:10.1210/jc.2004-0494 PMID:1971148 AUTHORS Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC TITLE Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. JOURNAL Am J Hum Genet 46:988-93 (1990) PMID:17077946 AUTHORS Ascoli P, Cavagnini F TITLE Hypopituitarism. JOURNAL Pituitary 9:335-42 (2006) DOI:10.1007/s11102-006-0416-5 |