Overview
Male infertility due to NANOS1 mutation is a rare genetic condition in which changes (mutations) in the NANOS1 gene lead to problems with sperm production, resulting in the inability to father children naturally. The NANOS1 gene plays an important role in the development and survival of germ cells, which are the cells that eventually become sperm. When this gene does not work properly, the testes may produce very few sperm (severe oligozoospermia) or no sperm at all (azoospermia). Men with this condition typically have normal physical development, normal hormone levels, and no other health problems — the only sign is difficulty conceiving a child. This condition is usually discovered in adulthood when a man and his partner seek medical help for infertility. A semen analysis will show very low or absent sperm counts. Because the condition is genetic, it does not respond to hormonal treatments or lifestyle changes aimed at improving sperm production. However, in some cases where a small number of sperm are still produced, assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) combined with in vitro fertilization (IVF) may offer a chance at biological parenthood. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and implications for future generations.
Key symptoms:
Inability to conceive a child naturallyVery low sperm count (oligozoospermia)Absence of sperm in semen (azoospermia)Normal physical and sexual developmentNormal testosterone levelsNormal-sized testes in some casesReduced testicular volume in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Male infertility due to NANOS1 mutation.
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Specialists
View all specialists →No specialists are currently listed for Male infertility due to NANOS1 mutation.
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
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Is there any chance that sperm can be found in my testes even if my semen analysis shows no sperm?,Would a surgical sperm retrieval procedure like micro-TESE be an option for me?,What are our chances of success with IVF and ICSI given my specific situation?,If we use assisted reproduction, could this mutation be passed on to our sons?,Should my family members be tested for this mutation?,Are there any clinical trials or new research for this type of genetic infertility?,Can you recommend a genetic counselor who specializes in reproductive genetics?
Common questions about Male infertility due to NANOS1 mutation
What is Male infertility due to NANOS1 mutation?
Male infertility due to NANOS1 mutation is a rare genetic condition in which changes (mutations) in the NANOS1 gene lead to problems with sperm production, resulting in the inability to father children naturally. The NANOS1 gene plays an important role in the development and survival of germ cells, which are the cells that eventually become sperm. When this gene does not work properly, the testes may produce very few sperm (severe oligozoospermia) or no sperm at all (azoospermia). Men with this condition typically have normal physical development, normal hormone levels, and no other health pro
How is Male infertility due to NANOS1 mutation inherited?
Male infertility due to NANOS1 mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Male infertility due to NANOS1 mutation typically begin?
Typical onset of Male infertility due to NANOS1 mutation is adult. Age of onset can vary across affected individuals.