| H01699 | |
| H番号 | H01699 |
| 名称 | TSH 単独欠損症 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | TSHB [HSA:7252] [KO:K05251] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00250 Congenital nongoitrous hypothyroidism (CHNG). |
| リンク | ICD-11: 5A61.4 ICD-10: E23.0 MeSH: C536917 OMIM: 275100 |
| 文献 | PMID:15292359 著者 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 タイトル Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. 雑誌 J Clin Endocrinol Metab 89:4136-41 (2004) DOI:10.1210/jc.2004-0494 PMID:1971148 著者 Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC タイトル Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. 雑誌 Am J Hum Genet 46:988-93 (1990) PMID:17077946 著者 Ascoli P, Cavagnini F タイトル Hypopituitarism. 雑誌 Pituitary 9:335-42 (2006) DOI:10.1007/s11102-006-0416-5 |