Overview
Rare genetic disorder with obstructive azoospermia is an uncommon inherited condition that affects male fertility. In this disorder, sperm are produced normally in the testicles, but they cannot reach the ejaculate because of a physical blockage somewhere in the reproductive tract. The term "azoospermia" means that no sperm are found in the semen, and "obstructive" means the cause is a blockage rather than a problem with sperm production itself. The blockage can occur in the epididymis (the coiled tube where sperm mature), the vas deferens (the tube that carries sperm from the testicles), or the ejaculatory ducts. Because this is a genetic condition, the blockage is present from birth or develops due to abnormal formation of these reproductive structures during development. Men with this condition typically discover it when they have difficulty conceiving a child. Semen analysis will show no sperm, but hormone levels and testicular size are usually normal, which helps distinguish it from other causes of azoospermia where sperm production itself is impaired. The most well-known genetic cause of obstructive azoospermia is mutations in the CFTR gene, which is also responsible for cystic fibrosis. Some men have a milder form where only the reproductive tract is affected, a condition known as congenital bilateral absence of the vas deferens (CBAVD). Treatment focuses on assisted reproduction techniques, such as surgically retrieving sperm directly from the testicles or epididymis and using it for in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). Genetic counseling is important for affected men and their partners, especially when CFTR mutations are involved, as there may be implications for the health of future children.
Also known as:
Key symptoms:
Inability to conceive a child naturallyNo sperm found in semen analysisNormal-sized testiclesNormal male hormone levelsAbsent or underdeveloped vas deferens (the tubes that carry sperm)Low semen volume in some casesPossible mild respiratory symptoms if related to cystic fibrosis carrier statusNo pain or discomfort in most casesNormal sexual function and libidoPossible swelling or fullness in the epididymis on physical exam
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 genetic disorder with obstructive azoospermia.
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Specialists
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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 genetic disorder with obstructive azoospermia.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific genetic cause of my obstructive azoospermia, and should I have CFTR gene testing?,What are my options for having biological children, and what are the success rates?,Should my partner be tested for CFTR mutations before we pursue assisted reproduction?,What is the risk that our children could have cystic fibrosis or be carriers?,Are there any health concerns for me beyond fertility, given my genetic results?,What sperm retrieval method do you recommend, and can sperm be frozen for future use?,Are there any clinical trials or new treatments I should know about?
Common questions about Rare genetic disorder with obstructive azoospermia
What is Rare genetic disorder with obstructive azoospermia?
Rare genetic disorder with obstructive azoospermia is an uncommon inherited condition that affects male fertility. In this disorder, sperm are produced normally in the testicles, but they cannot reach the ejaculate because of a physical blockage somewhere in the reproductive tract. The term "azoospermia" means that no sperm are found in the semen, and "obstructive" means the cause is a blockage rather than a problem with sperm production itself. The blockage can occur in the epididymis (the coiled tube where sperm mature), the vas deferens (the tube that carries sperm from the testicles), or t
At what age does Rare genetic disorder with obstructive azoospermia typically begin?
Typical onset of Rare genetic disorder with obstructive azoospermia is adult. Age of onset can vary across affected individuals.