Living with Female infertility due to zona pellucida defect
A rare genetic cause of female infertility in which egg cells lack their protective outer coat (zona pellucida).
Understanding Female infertility due to zona pellucida defect
Affected women can't conceive despite normal periods and hormone levels, and no blockage in the fallopian tubes or problem with the uterus. It is listed as starting in adulthood.
Signs & symptoms
GARD lists this finding:
- Female infertility
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.
- 3Consider genetic testing
Changes in ZP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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
Changes in the ZP1 gene cause it. It can be passed down in an autosomal dominant or autosomal recessive way.
Also known as: oocyte maturation defect 1; oocyte/zygote/embryo maturation arrest 1; ozema1
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 Female infertility due to zona pellucida defect.
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