Living with Young syndrome
A condition in men with infertility from blocked sperm flow, along with damaged airways in the lungs and sinus infections.
Understanding Young syndrome
Sperm are made but can't mix with the other fluid in semen because of a blockage in the epididymis, so no sperm are found in semen. It is usually found when men are checked for infertility. Because it looks like cystic fibrosis (CF), doctors may need to rule out CF.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Male infertility (no sperm in semen)
- Chronic cough
- Damaged airways in the lungs (bronchiectasis)
- Chronic sinus and nose inflammation
- Repeated sinus and lung infections
- Repeated ear infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, lung and breathing specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CFAP221 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the exact cause hasn't been identified, but lists the CFAP221 gene. It is listed as autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: azoospermia-sinopulmonary infections syndrome; azoospermia, obstructive and chronic sinopulmonary infections; azoospermia, obstructive, and chronic sinopulmonary infections; barry-perkins-young syndrome; cild55; ciliary dyskinesia, primary, 55
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Young syndrome.
Explore research for Young syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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