Female infertility due to oocyte meiotic arrest

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ORPHA:488191OMIM:620154N97.8
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Overview

Female infertility due to oocyte meiotic arrest is a rare genetic condition that prevents women from having biological children. In a healthy reproductive cycle, egg cells (called oocytes) go through a process called meiosis — a special type of cell division that prepares the egg to be fertilized by sperm. In this condition, the eggs get 'stuck' partway through that process and cannot complete the division needed for fertilization to happen. This is sometimes called oocyte maturation arrest or meiotic arrest infertility. Women with this condition typically have normal menstrual cycles and appear healthy in most other ways. The problem is only discovered when they try to conceive, either naturally or through in vitro fertilization (IVF). During IVF, doctors retrieve eggs from the ovaries, but the eggs fail to mature properly in the lab and cannot be fertilized. This is often the first clear sign that something is wrong at the cellular level. The condition is caused by changes (mutations) in specific genes that control how eggs develop and divide. Several genes have been identified, including TUBB8, PATL2, CDC20, and others. There is currently no treatment that can fix the underlying genetic problem. However, some women may have options such as using donor eggs to achieve pregnancy. Genetic counseling is an important part of care, especially for women who want to understand their chances of passing the condition to future children.

Key symptoms:

Unable to get pregnant despite tryingEggs retrieved during IVF fail to mature or fertilizeNormal menstrual periods in most casesNormal hormone levels in most casesNo eggs reaching the final stage of maturation needed for fertilizationRepeated failed IVF cycles due to immature eggsNo other obvious physical symptoms in daily life

Clinical phenotype terms (6)— hover any for plain English
Female infertilityHP:0008222Abnormal meiosisHP:0031515Metaphase I oocyte maturation arrestHP:0031516Abnormal oocyte morphologyHP:0020155Abnormal spermatogenesisHP:0008669
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Female infertility due to oocyte meiotic arrest.

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No actively recruiting trials found for Female infertility due to oocyte meiotic arrest at this time.

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No specialists are currently listed for Female infertility due to oocyte meiotic arrest.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Latest news about Female infertility due to oocyte meiotic arrest

1 articles
Clinical trialCLINICALTRIALSApr 15, 2026
Trial Now Recruiting: IntelliWell: An AI-Assisted Imaging Platform for Detection and Location of Ultra-Rare Testicular Sperm in Surgical Specimens (NCT07074015)
Researchers are testing a new AI-powered tool called IntelliWell that can find sperm cells in testicular tissue samples that appeared to have no sperm when chec
See all news about Female infertility due to oocyte meiotic arrest

Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific gene or genes are causing my condition, and what does that mean for my treatment options?,Is donor egg IVF likely to work for me, and what are my chances of a successful pregnancy?,Should my sisters or other female relatives be tested for this condition?,Are there any clinical trials or new treatments I should know about?,What type of genetic counseling is available to help me and my partner understand our options?,Are there any modified IVF protocols that might work better for my specific genetic variant?,What mental health or emotional support resources do you recommend for people going through infertility?

Common questions about Female infertility due to oocyte meiotic arrest

What is Female infertility due to oocyte meiotic arrest?

Female infertility due to oocyte meiotic arrest is a rare genetic condition that prevents women from having biological children. In a healthy reproductive cycle, egg cells (called oocytes) go through a process called meiosis — a special type of cell division that prepares the egg to be fertilized by sperm. In this condition, the eggs get 'stuck' partway through that process and cannot complete the division needed for fertilization to happen. This is sometimes called oocyte maturation arrest or meiotic arrest infertility. Women with this condition typically have normal menstrual cycles and app

How is Female infertility due to oocyte meiotic arrest inherited?

Female infertility due to oocyte meiotic arrest follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Female infertility due to oocyte meiotic arrest typically begin?

Typical onset of Female infertility due to oocyte meiotic arrest is adult. Age of onset can vary across affected individuals.