| H01011 | |
| H番号 | H01011 |
| 名称 | ACTH単独欠損症 |
| 概要 | Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | TBX19 [HSA:9095] [KO:K10184] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | デキサメタゾン [DR:D00292] ヒドロコルチゾン [DR:D00088] ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978] コルチゾン酢酸エステル [DR:D00973] ベタメタゾン [DR:D00244] プレドニゾロン [DR:D00472] プレドニゾロンコハク酸エステルナトリウム [DR:D01239] メチルプレドニゾロン [DR:D00407] |
| コメント | - |
| リンク | ICD-11: 5A61.1 ICD-10: E23.6 MeSH: C535668 OMIM: 201400 |
| 文献 | PMID:16390921 著者 Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M タイトル Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 雑誌 Pediatrics 117:e322-7 (2006) DOI:10.1542/peds.2005-1973 PMID:22170728 著者 Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Fluck CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S タイトル Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. 雑誌 J Clin Endocrinol Metab 97:E486-95 (2012) DOI:10.1210/jc.2011-1659 PMID:22028893 著者 Pham LL, Garot C, Brue T, Brauner R タイトル Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency. 雑誌 PLoS One 6:e26516 (2011) DOI:10.1371/journal.pone.0026516 |