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Disease Profile

Persistent Müllerian duct syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q55.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Female genital ducts in otherwise normal male; Persistent mullerian duct syndrome, types 1 and 2; Hernia uteri inguinale;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases;

Summary

Persistent Müllerian duct syndrome (PMDS) is affects the development of the sexual organs in males. Males with PMDS have normal testes and normal male external genitals. However, they also have a uterus and fallopian tubes (female reproductive organs). Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are found by accident during surgery to treat these conditions. Other features of PMDS may include infertility and an increased risk for testicular cancer. PMDS occurs due to genetic variants in either the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2). It is inherited in an autosomal recessive pattern. In some cases, the genetic cause is unknown. Diagnosis of PMDS is based on the symptoms, clinical exam, and imaging studies. The results of genetic testing may also be helpful for diagnosis. Treatment usually involves surgery to correct the undescended testes or inguinal hernia.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in boys with persistent Müllerian duct syndrome (PMDS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:[1][2]

  • Undescended testes
  • Inguinal hernia
  • Normal male genitals

Boys born with persistent Müllerian duct syndrome (PMDS) usually have undescended testes (cryptorchidism) or inguinal hernias. In children, PMDS is usually diagnosed by accident during surgery to treat one or both of these conditions, and a uterus and/or other female organs are found. Adults with PMDS are at increased risk for infertility and for developing testicular cancer.[2]

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.

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

Cause

Persistent Müllerian duct syndrome (PMDS) occurs when the AMH gene or the AMHR2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[2]

Diagnosis

Persistent Müllerian duct syndrome (PMDS) is diagnosed based on the symptoms, clinical exam, and imaging studies. A blood test to check hormone levels may be done. The results of genetic testing may also be helpful.[1][2]

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

    Treatment for persistent Müllerian duct syndrome (PMDS) usually involves surgery to correct the position of the testes and to remove the uterus, fallopian tubes, or other female structures.[1][2]

    Some causes of infertility may be treatable by removing sperm from the testicles and using assisted reproductive technology (ART).[1]

    Specialists involved in the care of someone with PMDS may include:

    • Reproductive surgeon
    • Endocrinologist

    Organizations

    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

      Learn more

      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

      • MedlinePlus Genetics contains information on Persistent Müllerian 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 Müllerian duct syndrome. Click on the link to view a sample search on this topic.

          References

          1. 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.
          2. Picard JY, Josso N. Persistent Müllerian duct syndrome: an update. Reprod Fertil Dev. Jul 2019; 31(7):1240-1245. https://pubmed.ncbi.nlm.nih.gov/32172781.
          3. Alharbi KN, Khushaim A, Alrasheed M, Akhtar M, Neimatallah M. Radiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature. J Radiol Case Rep. Mar 31, 2017; 11(3):7-14. https://pubmed.ncbi.nlm.nih.gov/28584567.
          4. Bugrul F, Abali ZY, Kirkgoz T, Cerit KK, et al. Persistent Mullerian Duct Syndrome: A rare but important etiology of inguinal hernia and cryptorchidism. Sex Dev. 2019; 13(5-6):264-270. https://pubmed.ncbi.nlm.nih.gov/32961540.

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