Overview
Rare disorder with obstructive azoospermia is an uncommon condition in which a man produces sperm in his testicles, but the sperm cannot reach the ejaculate because of a physical blockage somewhere along the reproductive tract. The term "azoospermia" means that no sperm are found in the semen when tested. In this particular rare form, the obstruction is caused by an underlying genetic or developmental abnormality rather than by infection, injury, or prior surgery. The blockage can occur in the epididymis (the coiled tube where sperm mature), the vas deferens (the tube that carries sperm from the testicle), or the ejaculatory ducts. Because sperm production itself is usually normal, men with this condition often have normal-sized testicles and normal hormone levels, which can make the diagnosis surprising when infertility is discovered. The main symptom is the inability to conceive a child naturally. Men typically feel healthy otherwise and may not know anything is wrong until they undergo a semen analysis during a fertility evaluation. In some cases, the condition may be associated with other features depending on the underlying genetic cause, such as absent vas deferens (as seen in some CFTR-related conditions) or other developmental differences of the reproductive tract. Treatment focuses on retrieving sperm directly from the testicle or epididymis through minor surgical procedures, which can then be used with assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) combined with in vitro fertilization (IVF). In select cases, surgical reconstruction of the blocked area may be possible. Genetic counseling is recommended to understand the underlying cause and any implications for future children.
Also known as:
Key symptoms:
Inability to conceive a child (infertility)No sperm found in semen analysisNormal-sized testiclesNormal sex drive and sexual functionNormal hormone levels in most casesPossible absence of the vas deferens on physical examLow semen volume in some casesPossible associated respiratory or sinus problems if related to CFTR mutations
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Rare disorder with obstructive azoospermia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare disorder with obstructive azoospermia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Rare disorder with obstructive azoospermia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare disorder with obstructive azoospermia.
Community
No community posts yet. Be the first to share your experience with Rare disorder with obstructive azoospermia.
Start the conversation →Latest news about Rare disorder with obstructive azoospermia
No recent news articles for Rare disorder with obstructive azoospermia.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific cause of the blockage in my case?,Should I have genetic testing, and what genes will be tested?,What are my options for having biological children?,What is the success rate of sperm retrieval and IVF/ICSI at your center?,If I carry a CFTR mutation, what does that mean for my future children?,Is surgical reconstruction an option in my case, or is sperm retrieval the best approach?,Are there any other health concerns I should be monitored for based on my genetic results?
Common questions about Rare disorder with obstructive azoospermia
What is Rare disorder with obstructive azoospermia?
Rare disorder with obstructive azoospermia is an uncommon condition in which a man produces sperm in his testicles, but the sperm cannot reach the ejaculate because of a physical blockage somewhere along the reproductive tract. The term "azoospermia" means that no sperm are found in the semen when tested. In this particular rare form, the obstruction is caused by an underlying genetic or developmental abnormality rather than by infection, injury, or prior surgery. The blockage can occur in the epididymis (the coiled tube where sperm mature), the vas deferens (the tube that carries sperm from t
At what age does Rare disorder with obstructive azoospermia typically begin?
Typical onset of Rare disorder with obstructive azoospermia is adult. Age of onset can vary across affected individuals.