| H00608 | |
| H番号 | H00608 |
| 名称 | 46,XY性分化疾患 (テストステロン分泌異常) |
| 概要 | 46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | nt06019(H00608) Steroid hormone biosynthesis |
| 病因遺伝子 | LHCGR [HSA:3973] [KO:K04248] HSD17B3 [HSA:3293] [KO:K10207] SRD5A2 [HSA:6716] [KO:K12344] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2A.3 ICD-10: Q56.1 MeSH: D058490 OMIM: 201710 264300 264600 |
| 文献 | PMID:18279784 著者 Hughes IA タイトル Disorders of sex development: a new definition and classification. 雑誌 Best Pract Res Clin Endocrinol Metab 22:119-34 (2008) DOI:10.1016/j.beem.2007.11.001 PMID:18811725 著者 Mendonca BB, Domenice S, Arnhold IJ, Costa EM タイトル 46,XY disorders of sex development (DSD). 雑誌 Clin Endocrinol (Oxf) 70:173-87 (2009) DOI:10.1111/j.1365-2265.2008.03392.x |