Living with Male infertility with teratozoospermia due to single gene mutation
A rare genetic cause of male infertility in which most sperm have an abnormal shape.
Understanding Male infertility with teratozoospermia due to single gene mutation
In over 85% of sperm, the shape is abnormal. It is a group of conditions that can affect the sperm head, neck, midpiece, or tail. It is described in teens and adults.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormally shaped sperm
- Abnormal sperm tail shape
- Round-headed sperm (globozoospermia)
- No sperm in semen (azoospermia)
- Smaller testes
- Higher levels of gonadotropin hormones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
A change in a single gene known to cause teratozoospermia leads to this condition. GARD does not name the gene in this record.
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Male infertility with teratozoospermia due to single gene mutation.
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