Overview
Male infertility with spermatogenesis disorder is a group of rare genetic conditions in which the body has trouble making sperm cells properly. Spermatogenesis is the process by which sperm are produced in the testicles. When this process is disrupted due to genetic changes, a man may produce very few sperm (oligozoospermia), sperm that do not move well or have abnormal shapes, or no sperm at all (azoospermia). This condition is typically discovered in adulthood when a couple has difficulty conceiving a child. The causes of this disorder are varied and can involve changes in many different genes that play roles in sperm cell development, division, and maturation. Some forms are linked to chromosomal abnormalities such as Y-chromosome microdeletions or Klinefelter syndrome, while others involve single-gene mutations. Because many genes are involved, the severity and specific features can differ widely from person to person. Treatment depends on the underlying genetic cause and the degree of sperm production impairment. Options may include hormone therapy to stimulate sperm production, surgical sperm retrieval techniques such as testicular sperm extraction (TESE), and assisted reproductive technologies like intracytoplasmic sperm injection (ICSI). In some cases, donor sperm or adoption may be considered. Genetic counseling is strongly recommended, especially since some genetic causes can be passed to future children.
Key symptoms:
Inability to conceive a child after one year of tryingLow sperm count or no sperm in semenAbnormally shaped spermSperm that do not swim wellSmall or underdeveloped testiclesHormonal imbalances such as low testosteroneReduced facial or body hair in some casesBreast tissue enlargement in some casesHistory of undescended testiclesNormal sexual function but inability to father children
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
3 eventsLomonosov Moscow State University Medical Research and Educational Center — PHASE1, PHASE2
Herlev and Gentofte Hospital — NA
Inception Fertility Research Institute, LLC
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Male infertility with spermatogenesis disorder.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 with spermatogenesis disorder.
Community
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Start the conversation →Latest news about Male infertility with spermatogenesis disorder
Disease timeline:
New recruiting trial: Study of Tolerability, Safety, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of the Medicinal Product MediReg®
A new clinical trial is recruiting patients for Male infertility with spermatogenesis disorder
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.What is the specific genetic cause of my spermatogenesis disorder, and what does it mean for my chances of fathering a biological child?,Would surgical sperm retrieval (micro-TESE) be a reasonable option in my case, and what are the success rates for my specific condition?,Are there any hormonal treatments that might help improve my sperm production?,If I have a son through assisted reproduction, could he inherit this condition?,Should my partner and I undergo genetic counseling before pursuing assisted reproduction?,Are there any clinical trials or experimental treatments I should know about?,Does my genetic condition have any other health implications beyond fertility that I should be monitored for?
Common questions about Male infertility with spermatogenesis disorder
What is Male infertility with spermatogenesis disorder?
Male infertility with spermatogenesis disorder is a group of rare genetic conditions in which the body has trouble making sperm cells properly. Spermatogenesis is the process by which sperm are produced in the testicles. When this process is disrupted due to genetic changes, a man may produce very few sperm (oligozoospermia), sperm that do not move well or have abnormal shapes, or no sperm at all (azoospermia). This condition is typically discovered in adulthood when a couple has difficulty conceiving a child. The causes of this disorder are varied and can involve changes in many different ge
At what age does Male infertility with spermatogenesis disorder typically begin?
Typical onset of Male infertility with spermatogenesis disorder is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Male infertility with spermatogenesis disorder?
Yes — 1 recruiting clinical trial is currently listed for Male infertility with spermatogenesis disorder on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Male infertility with spermatogenesis disorder?
4 specialists and care centers treating Male infertility with spermatogenesis disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.