KEGG   DISEASE: Persistent Mullerian duct syndromeHelp
Entry
H00609                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H00609  Persistent Mullerian duct syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H00609  Persistent Mullerian duct syndrome
BRITE hierarchy
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
Gene
(Type I) AMH [HSA:268] [KO:K04665]
(Type II) AMHR2 [HSA:269] [KO:K04672]
Other DBs
ICD-11: LD2A.Y
ICD-10: Q55.8
MeSH: C536665
OMIM: 261550
Reference
  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
Reference
  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
Reference
  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

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