Overview
Male infertility due to obstructive azoospermia of genetic origin is a condition in which a man produces sperm in his testicles, but the sperm cannot reach the ejaculate because of a physical blockage in the reproductive tract that is caused by a genetic problem. "Azoospermia" means no sperm is found in the semen. The blockage can occur in different parts of the tubes that carry sperm, including the epididymis (a coiled tube next to each testicle) or the vas deferens (the tube that carries sperm from the epididymis toward the urethra). The most well-known genetic cause is mutations in the CFTR gene, which is the same gene responsible for cystic fibrosis. Men who carry certain CFTR mutations may be born without the vas deferens entirely, a condition called congenital bilateral absence of the vas deferens (CBAVD). Other genetic causes can also lead to structural blockages. Men with this condition typically discover the problem when they are unable to conceive a child naturally. Hormone levels and testicle size are usually normal. Treatment does not fix the blockage itself but focuses on retrieving sperm directly from the testicles through procedures like testicular sperm extraction (TESE) or microsurgical epididymal sperm aspiration (MESA), which can then be used with in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) to achieve pregnancy.
Key symptoms:
Inability to conceive a child after trying for a year or moreNo sperm found in semen analysisNormal sex drive and sexual functionNormal-sized testiclesNormal hormone levelsAbsent or underdeveloped vas deferens (may be found on physical exam)Low semen volume in some casesPossible mild respiratory symptoms if related to cystic fibrosis carrier status
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 Male infertility due to obstructive azoospermia of genetic origin.
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Specialists
View all specialists →No specialists are currently listed for Male infertility due to obstructive azoospermia of genetic origin.
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 Male infertility due to obstructive azoospermia of genetic origin.
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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?,Should my partner be tested for CFTR mutations before we pursue fertility treatment?,What are the chances of having a child with cystic fibrosis if we use assisted reproduction?,Which sperm retrieval method is best for my situation — MESA, PESA, or TESE?,What are the success rates for IVF/ICSI with surgically retrieved sperm at your center?,Should we consider preimplantation genetic testing (PGT) for our embryos?,Do I need any monitoring for mild cystic fibrosis-related health issues?
Common questions about Male infertility due to obstructive azoospermia of genetic origin
What is Male infertility due to obstructive azoospermia of genetic origin?
Male infertility due to obstructive azoospermia of genetic origin is a condition in which a man produces sperm in his testicles, but the sperm cannot reach the ejaculate because of a physical blockage in the reproductive tract that is caused by a genetic problem. "Azoospermia" means no sperm is found in the semen. The blockage can occur in different parts of the tubes that carry sperm, including the epididymis (a coiled tube next to each testicle) or the vas deferens (the tube that carries sperm from the epididymis toward the urethra). The most well-known genetic cause is mutations in the CFTR
At what age does Male infertility due to obstructive azoospermia of genetic origin typically begin?
Typical onset of Male infertility due to obstructive azoospermia of genetic origin is adult. Age of onset can vary across affected individuals.