| H00890 | |
| H number | H00890 |
| Name | Azoospermia |
| Description | Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest. |
| Category | Reproductive system disease |
| Network | - |
| Gene | USP9Y [HSA:8287] [KO:K11840] (meiosis) SYCP3 [HSA:50511] [KO:K19528] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB04.0 ICD-10: N46 MeSH: D053713 C536875 OMIM: 415000 270960 |
| Reference | PMID:21195467 AUTHORS Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A TITLE Role of genetics in azoospermia. JOURNAL Urology 77:598-601 (2011) DOI:10.1016/j.urology.2010.10.001 PMID:19246366 AUTHORS Tyler-Smith C, Krausz C TITLE The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene. JOURNAL N Engl J Med 360:925-7 (2009) DOI:10.1056/NEJMe0900301 PMID:19246359 AUTHORS Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P TITLE Spermatogenesis in a man with complete deletion of USP9Y. JOURNAL N Engl J Med 360:881-5 (2009) DOI:10.1056/NEJMoa0806218 PMID:14643120 AUTHORS Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ TITLE Azoospermia in patients heterozygous for a mutation in SYCP3. JOURNAL Lancet 362:1714-9 (2003) DOI:10.1016/S0140-6736(03)14845-3 PMID:19110213 AUTHORS Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H TITLE Mutations of the SYCP3 gene in women with recurrent pregnancy loss. JOURNAL Am J Hum Genet 84:14-20 (2009) DOI:10.1016/j.ajhg.2008.12.002 |