Overview
Rare female infertility due to oocyte maturation defect is a genetic condition that prevents a woman's eggs (oocytes) from developing properly. Normally, eggs go through a series of steps to mature before they can be fertilized by sperm. In women with this condition, the eggs get stuck at an immature stage and cannot complete this process. This means that natural conception is extremely difficult or impossible, and even assisted reproductive technologies like in vitro fertilization (IVF) often fail because the retrieved eggs remain immature and cannot be fertilized successfully. Women with this condition typically have normal menstrual cycles and normal hormone levels, which can make the diagnosis surprising and frustrating. The problem only becomes apparent when a woman tries to conceive and undergoes fertility evaluation or IVF treatment. During IVF, doctors notice that most or all of the eggs retrieved are stuck at an immature stage, usually at the germinal vesicle (GV) stage or metaphase I (MI) stage, and fail to reach the mature metaphase II (MII) stage needed for fertilization. Several genes have been identified that can cause this condition, and research is ongoing. Currently, there is no cure, and treatment options are limited. Some experimental approaches, such as in vitro maturation (IVM) of eggs, have been tried with variable success. Genetic counseling is recommended for affected women and their families to understand the inheritance pattern and implications for family planning.
Key symptoms:
Inability to get pregnant despite tryingRepeated failure of IVF cyclesEggs that remain immature after hormone stimulationNormal menstrual periods despite infertilityNormal hormone levels on blood testsEggs that fail to fertilize during IVFNo other obvious cause of infertility foundEmbryos that fail to develop after fertilization attempts
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Rare female infertility due to oocyte maturation defect.
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Specialists
View all specialists →No specialists are currently listed for Rare female infertility due to oocyte maturation defect.
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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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation is causing my oocyte maturation problem?,Is in vitro maturation (IVM) an option for me, and what are the success rates for my specific genetic cause?,Are there any modified IVF protocols that might improve my chances?,Should my family members be tested for this genetic condition?,What are my options for having children, including egg donation or adoption?,Are there any clinical trials or research studies I could participate in?,Can you recommend a genetic counselor who specializes in reproductive genetics?
Common questions about Rare female infertility due to oocyte maturation defect
What is Rare female infertility due to oocyte maturation defect?
Rare female infertility due to oocyte maturation defect is a genetic condition that prevents a woman's eggs (oocytes) from developing properly. Normally, eggs go through a series of steps to mature before they can be fertilized by sperm. In women with this condition, the eggs get stuck at an immature stage and cannot complete this process. This means that natural conception is extremely difficult or impossible, and even assisted reproductive technologies like in vitro fertilization (IVF) often fail because the retrieved eggs remain immature and cannot be fertilized successfully. Women with th
How is Rare female infertility due to oocyte maturation defect inherited?
Rare female infertility due to oocyte maturation defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rare female infertility due to oocyte maturation defect typically begin?
Typical onset of Rare female infertility due to oocyte maturation defect is adult. Age of onset can vary across affected individuals.