Rare Oncology News

Advertisement

Disease Profile

Duplication of urethra

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

US Estimated

Europe Estimated

Age of onset

-

ICD-10

Q64.7

Inheritance

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

no.svg

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.

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Urethral duplication

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Duplication of urethra is a very rare condition where there is an extra urethra, instead of the normal one. Urethral duplications can be classified into three types: incomplete urethral duplication (type 1), complete urethral duplication (type 2), and urethral duplication as a result of two bladdersThe urethra is the tube that connects the urinary bladder to the genitals for the removal of fluids from the body. In men, the urethra is a long tube that runs through the penis. In women, the urethra is shorter and emerges above the vaginal opening.[1][2] Click here to view a picture of the male urinary tract. Click here to view a picture of the female urinary tract.

Symptoms

There are 3 different types of duplication of urethra. In type 1, the extra urethra arises from the primary urethra and may or may not extend to the external genitals. In type 2, the extra urethra either arises from another opening in the bladder or connects with the primary ureter at the opening of the bladder and then extends to the external genitals. The urethra can also connect with the primary urethra at the opening of the bladder and extend into the perineum (also called the Y-type). Type 3 is when there are two bladders that each give rise to a separate urethra that exits through the external genitals.[2] To view an illustration of these classifications, click here and view Figure 2 on page 2 of this journal article.

The clinical features of this abnormality are variable. People with complete urethral duplication can be asymptomatic or can present with a double stream of urine, incontinence, recurrent infections, or outflow obstructions. A double stream is the most common complaint and can be annoying, depending on where the extra opening in the genitals is located.[2]

Cause

The exact cause of this condition is unknown; but it is probably due to a defect during the development of the embryo.[2]

Treatment

Treatment of this condition depends on the anatomy of the duplication and its clinical features. Some people with mild symptoms do not require surgery. However, sugery might be considered for disturbing symptoms, such as an annoying double stream or incontinence, or for cosmetic reasons.[2]

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.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • 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.
    • 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 Duplication of urethra. Click on the link to view a sample search on this topic.

      References

      1. Urethral Disorders. MedlinePlus. https://www.nlm.nih.gov/medlineplus/urethraldisorders.html. Accessed 7/15/2011.
      2. Erdil H, Mavi A et al. Urethral Duplication. Acta Med. Okayama. 2003; https://www.lib.okayama-u.ac.jp/www/acta/pdf/57_2_91.pdf. Accessed 7/15/2011.

      Rare Oncology News