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Diseases

Genetic and Rare Diseases Information Center (GARD)

Persistent Mullerian duct syndrome


Other Names for this Disease
  • Female genital ducts in otherwise normal male
  • Persistent mullerian duct syndrome, types 1 and 2
  • Hernia uteri inguinale
  • Persistent oviduct syndrome
  • PMDS
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Overview

Persistent Müllerian duct syndrome (PMDS) is a disorder of sexual development that affects males. Affected males have normal male reproductive organs and normal male external genitalia, but also have a uterus and fallopian tubes (female reproductive organs). The uterus and fallopian tubes develop from a structure called the Müllerian duct in the fetus, which normally breaks down in males. In males with PMDS, the Müllerian duct remains. Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are often noticed during surgery to treat these conditions. Other features of PMDS may include unusual or abnormal positioning of the testes and female reproductive organs; transverse testicular ectopia (when both testicles descend on the same side); and infertility. PMDS is caused by mutations in the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2) and is inherited in an autosomal recessive manner. In some cases, the genetic cause is unknown. Treatment may involve surgery to place the testes within the scrotum and remove Müllerian structures.[1][2]
Last updated: 10/20/2015

References

  1. Persistent Müllerian duct syndrome. Genetics Home Reference. March, 2011; http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome.
  2. Jean-Yves Picard. Persistent Müllerian duct syndrome. Orphanet. January, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Persistent Mullerian duct syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Persistent Mullerian duct syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Female genital ducts in otherwise normal male
  • Persistent mullerian duct syndrome, types 1 and 2
  • Hernia uteri inguinale
  • Persistent oviduct syndrome
  • PMDS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.