| H00609 | |
| H number | H00609 |
| Name | Persistent Mullerian duct syndrome |
| Description | Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts. |
| Category | Reproductive system disease |
| Network | nt06507(H00609) TGFB signaling |
| Gene | (Type I) AMH [HSA:268] [KO:K04665] (Type II) AMHR2 [HSA:269] [KO:K04672] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2A.Y ICD-10: Q55.8 MeSH: C536665 OMIM: 261550 |
| Reference | 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 PMID:15878900 AUTHORS Josso N, Belville C, di Clemente N, Picard JY TITLE AMH and AMH receptor defects in persistent Mullerian duct syndrome. JOURNAL Hum Reprod Update 11:351-6 (2005) DOI:10.1093/humupd/dmi014 PMID:28742509 AUTHORS Altincik A, Karaca F, Onay H TITLE Persistent Mullerian duct syndrome: A novel mutation in the Alphanti-Mullerian Etaormone gene. JOURNAL Hormones (Athens) 16:205-208 (2017) DOI:10.14310/horm.2002.1735 |