National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Persistent Mullerian duct syndrome


Other Names:
Female genital ducts in otherwise normal male; Persistent mullerian duct syndrome, types 1 and 2; Hernia uteri inguinale; Female genital ducts in otherwise normal male; Persistent mullerian duct syndrome, types 1 and 2; Hernia uteri inguinale; Persistent oviduct syndrome; PMDS See More
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Persistent Mullerian duct syndrome (PMDS) is a disorder of sexual development that affects males. Males with PMDS have normal male reproductive organs and normal male external genitalia. However, they also have a uterus and fallopian tubes (female reproductive organs). The uterus and fallopian tubes develop from a structure called the Müllerian duct, which is present in both male and female fetuses. It typically breaks down in males, but it remains in those with PMDS. Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are often incidentally noticed during surgery to treat these conditions. Other features of PMDS may include 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). It 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][3] If not treated, undescended testes may degenerate or develop cancer.[1]
Last updated: 6/19/2017
The first apparent features of persistent Müllerian duct syndrome (PMDS) usually are undescended testes (cryptorchidism) or inguinal hernias.[1] In children, it usually is not until surgery to treat one or both of these conditions that the uterus and fallopian tubes are found and PMDS is diagnosed.[1][3] Adults in whom cryptorchidism or inguinal hernia have been ignored may end up being diagnosed because of hematuria (blood in the urine) due to hormonal imbalances.[3]

The testes and female reproductive organs may be located in unusual positions in males with PMDS. In many cases, one testicle is within the scrotum and the other testicle has not descended. In some cases, both testes are undescended and the uterus is in the pelvis. In other cases, the descended testicle pulls the fallopian tube and uterus into the canal through which it descended. It is also possible for the undescended testicle from the other side of the body to be pulled into the same area. This is called transverse testicular ectopia and is common in males with PMDS.[1]

Other signs and symptoms of PMDS may include infertility, blood in the semen (hematospermia), and an increased risk of cancer. Cancer may develop in an undescended testicle that is not treated, or in Mullerian structures that have not been removed.[1][3]

Various other abnormalities have more rarely been reported in association with PMDS including intestinal defects and kidney abnormalities.[3]
Last updated: 6/19/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of male internal genitalia 0000022
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
30%-79% of people have these symptoms
Inguinal hernia 0000023
Male infertility 0003251
Male pseudohermaphroditism 0000037
1%-4% of people have these symptoms
Abnormal circulating hormone level
Abnormality of circulating hormone level
0003117
Bilateral cryptorchidism 0008689
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for persistent Mullerian duct syndrome (PMDS) may involve surgery to place the testes within the scrotum and to remove Müllerian structures. Treatment aims to prevent the two main complications: cancer and infertility.[3]

Surgery to place the testes within the scrotum (orchidopexy) is recommended due to the risk of cancer otherwise. Whether to remove Müllerian structures has been controversial in the past.[3][4] Authors of more recent articles have recommended removing Müllerian structures due to increasing reports of cancer, and because they can also cause discomfort and hematuria (blood in the urine).[3] It has been suggested that surgery should be done between the ages of one and two years to reduce the risk of damaging the vas deferens. Orchidopexy and removal of Mullerian structures should be done at the same time or as a staged procedure if needed.[4]

Some causes of infertility (whether present at birth or due to surgical treatment) may be treatable by extracting sperm from the testicles and using assisted reproductive technology (ART).[3]
Last updated: 6/19/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

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  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.
  3. Picard JY, Cate RL, Racine C, Josso N. The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. Sex Dev. May 20, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28528332.
  4. Saleem M, Ather U, Mirza B, Iqbal S, Sheikh A, Shaukat M, Sheikh MT, Ahmad F, Rehan T. Persistent mullerian duct syndrome: A 24-year experience. J Pediatr Surg. October, 2016; 51(10):1721-1724. https://www.ncbi.nlm.nih.gov/labs/articles/27329391/.