| H00608 | |
| H number | H00608 |
| Name | 46,XY disorder of sex development due to testosterone secretion defect |
| Description | 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. |
| Category | Reproductive system disease |
| Network | nt06019(H00608) Steroid hormone biosynthesis |
| Gene | LHCGR [HSA:3973] [KO:K04248] HSD17B3 [HSA:3293] [KO:K10207] SRD5A2 [HSA:6716] [KO:K12344] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2A.3 ICD-10: Q56.1 MeSH: D058490 OMIM: 201710 264300 264600 |
| Reference | PMID:18279784 AUTHORS Hughes IA TITLE Disorders of sex development: a new definition and classification. JOURNAL Best Pract Res Clin Endocrinol Metab 22:119-34 (2008) DOI:10.1016/j.beem.2007.11.001 PMID:18811725 AUTHORS Mendonca BB, Domenice S, Arnhold IJ, Costa EM TITLE 46,XY disorders of sex development (DSD). JOURNAL Clin Endocrinol (Oxf) 70:173-87 (2009) DOI:10.1111/j.1365-2265.2008.03392.x |