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Disease Profile

Young 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

Adult

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ICD-10

N46

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)

Azoospermia obstructive and chronic sinopulmonary infections; Azoospermia-sinopulmonary infections syndrome; Sinusitis-infertility syndrome;

Categories

Congenital and Genetic Diseases; Lung Diseases; Male Reproductive Diseases

Summary

Young syndrome is a condition characterized by male infertility, damaged airways in the lungs (bronchiectasis), and inflammation of the sinuses (sinusitis). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the epididymis (tube through which sperm exit the testis). This results in nonexistent levels of sperm in semen.[1][2][3]

Young syndrome is typically diagnosed in middle-aged men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. Although the exact cause of Young syndrome has not been identified, it is believed to either be related to childhood exposure to mercury or genetic factors. While there is no one treatment for Young syndrome, management involves treatment of sinus and lung infections. Fertility treatment may also be an option, including surgery to remove the obstruction in the epididymis (vasoepididymostomy) or assisted reproduction, such as intracytoplasmic sperm injection (ICSI).[2][3]

Symptoms

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
Decreased fertility
Abnormal fertility
0000144
Obstructive azoospermia
0011962
Recurrent bronchitis
0002837
Recurrent sinopulmonary infections
Recurrent sinus and lung infections
0005425
30%-79% of people have these symptoms
Abnormality of the pancreas
0001732
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Azoospermia
Absent sperm in semen
0000027
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Congenital cystic adenomatoid malformation of the lung
0010959

Diagnosis

The diagnosis of Young syndrome is based on the presence of signs and symptoms and the absence of other similar conditions, such as cystic fibrosis and primary ciliary dyskinesia.[3] The diagnosis process may include a physical examination, lab tests, and referrals to specialists.

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

    • 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 Young syndrome. Click on the link to view a sample search on this topic.

      References

      1. Victor A. McKusick. Young Syndrome. OMIM (Online Mendelian Inheritance in Man). 8/9/2010; https://www.omim.org/entry/279000. Accessed 10/4/2016.
      2. Pr Pierre Sarda. Young syndrome. Orphanet. March 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471. Accessed 10/4/2016.
      3. Alaa J Hamada,I Sandro C Esteves, Ashok AgarwalI. A comprehensive review of genetics and genetic testing in azoospermia. Clinics (Sao Paulo). Feb 2013; 68(Suppl 1):39-60. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583155/.

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