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

Young syndrome


Other Names:
Azoospermia obstructive and chronic sinopulmonary infections; Azoospermia-sinopulmonary infections syndrome; Sinusitis-infertility syndrome; Azoospermia obstructive and chronic sinopulmonary infections; Azoospermia-sinopulmonary infections syndrome; Sinusitis-infertility syndrome; Barry Perkins Young syndrome See More
Categories:
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]
Last updated: 10/4/2016

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
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
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Last updated: 7/1/2020
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. 
Last updated: 10/4/2016

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The major differential diagnoses include CF and congenital bilateral absence of the vas deferens (CBAVD, see these terms), but sweat-gland and pancreatic function are normal.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I need to find out more about Young syndrome. I have nasal polyps and have had 3 surgeries in the past 10 years. I have other medical problems as well. I read that there are many diseases that can cause these polyps. Please send me information on Young syndrome. See answer


  1. Victor A. McKusick. Young Syndrome. OMIM (Online Mendelian Inheritance in Man). 8/9/2010; http://www.omim.org/entry/279000. Accessed 10/4/2016.
  2. Pr Pierre Sarda. Young syndrome. Orphanet. March 2007; http://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/.