Overview
Male infertility with spermatogenesis disorder due to single gene mutation is a group of rare genetic conditions in which a change (mutation) in a single gene disrupts the normal production of sperm in the testes. Spermatogenesis is the process by which the body makes mature sperm cells. When a key gene involved in this process is not working properly, it can lead to very low sperm counts (oligozoospermia), no sperm in the semen at all (azoospermia), or sperm that are abnormally shaped or unable to move well. Men with this condition typically appear healthy otherwise and usually discover the problem when they have difficulty conceiving a child with their partner. There are many different genes that can cause this condition, and the specific gene involved determines the exact pattern of inheritance and severity. Some of the most commonly implicated genes include TEX11, SYCP3, NR5A1, DMRT1, and many others. Because so many genes can be responsible, this is considered a genetically heterogeneous group of disorders rather than a single disease. Treatment options are currently limited. Assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) may help some men father biological children if any viable sperm can be retrieved, sometimes through testicular sperm extraction (TESE). Genetic counseling is strongly recommended to understand the risk of passing the condition to future children. Research into gene therapy and other targeted treatments is ongoing but not yet available for clinical use.
Key symptoms:
Inability to conceive a child after one year of tryingVery low sperm countNo sperm found in the semenAbnormally shaped spermSperm that cannot swim properlySmall or underdeveloped testes in some casesNormal sexual function and libido in most casesNormal male physical appearance in most casesPossible history of undescended testes in childhood
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
Treatments
1 availableVIZIMPRO
VIZIMPRO is indicated for the first-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 19 deletion or exon 21 L858R substit…
VIZIMPRO is indicated for the first-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 19 deletion or exon 21 L858R substitution mutations as detected by an FDA-approved test
Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Male infertility with spermatogenesis disorder due to single gene 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
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which specific gene mutation is causing my infertility, and what does it mean for my chances of having biological children?,Is there any chance of finding sperm through surgical retrieval like micro-TESE?,What are my options for assisted reproduction, and what are the success rates?,If I use my own sperm for IVF/ICSI, could my sons inherit this condition?,Should my family members be tested for this gene mutation?,Are there any clinical trials or new treatments being studied for my specific condition?,Can you recommend a genetic counselor who specializes in reproductive genetics?
Common questions about Male infertility with spermatogenesis disorder due to single gene mutation
What is Male infertility with spermatogenesis disorder due to single gene mutation?
Male infertility with spermatogenesis disorder due to single gene mutation is a group of rare genetic conditions in which a change (mutation) in a single gene disrupts the normal production of sperm in the testes. Spermatogenesis is the process by which the body makes mature sperm cells. When a key gene involved in this process is not working properly, it can lead to very low sperm counts (oligozoospermia), no sperm in the semen at all (azoospermia), or sperm that are abnormally shaped or unable to move well. Men with this condition typically appear healthy otherwise and usually discover the p
At what age does Male infertility with spermatogenesis disorder due to single gene mutation typically begin?
Typical onset of Male infertility with spermatogenesis disorder due to single gene mutation is adult. Age of onset can vary across affected individuals.