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Disease Profile
Young syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 | ||
0000007 | ||
Azoospermia |
Absent sperm in semen
|
0000027 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
0010959 |
Diagnosis
Related diseases
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
|
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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.
|
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
-
American Society for Reproductive Medicine
1209 Montgomery Highway
Resources for patients page: https://www.asrm.org/Patients/mainpati.html
Birmingham, AL 35216-2809
Telephone: 205-978-5000
Fax: (205) 978-5005
E-mail: [email protected]
Website: https://www.asrm.org -
The InterNational Council on Infertility Information Dissemination, Inc.
5765 F Burke Centre Pkwy
Box 330
Burke, VA 22015
Telephone: 703-379-9178
Fax: 703-379-1593
E-mail: [email protected]
Website: https://www.inciid.org
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
- Victor A. McKusick. Young Syndrome. OMIM (Online Mendelian Inheritance in Man). 8/9/2010; https://www.omim.org/entry/279000. Accessed 10/4/2016.
- 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.
- 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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