Living with Partial chromosome Y deletion
A genetic change that can severely reduce sperm production and is a common genetic cause of male infertility.
Understanding Partial chromosome Y deletion
The missing piece leads to a severe shortage of sperm production (spermatogenesis). Chromosome Y deletions are a frequent genetic cause of male infertility. It is typically noticed in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Infertility
- Low sperm count (oligozoospermia)
- No sperm in semen (azoospermia)
- Small testes
- Abnormal sperm production
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 Chromosome Disorder Outreach and other patient organizations
- 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
Changes in the genes (also called variants) cause this condition. The cause is a deletion, which means a piece of the Y chromosome is missing.
Also known as: male sterility due to chromosome y deletion; partial deletion of chromosome y
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Partial chromosome Y deletion.
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