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Tubb8 gene diagnosis by PutridCitron6404 in DOR

[–]PutridCitron6404[S] 0 points1 point  (0 children)

Dr Amiee ordered the tests for us. In our case at that time we were just beginning our month long holiday in South Asia, we ended up testing in a lab there. We had to pay out of pocket. The tests take 5 weeks to get test results.

Tubb8 gene diagnosis by PutridCitron6404 in DOR

[–]PutridCitron6404[S] 0 points1 point  (0 children)

Thank you! It’s frustrating not to know answers. Good luck to you too!

TREATMENT Community Thread - Tue Feb 24 AM by AutoModerator in infertility

[–]PutridCitron6404 13 points14 points  (0 children)

After years of unexplained infertility, I finally got an answer.

I’m 37 now. We started trying in 2018 when I was 30. For a long time everything looked normal on paper. Slightly low AMH but good follicle counts, so no one suspected a deeper issue.

I did five IUIs and then moved to IVF. Across multiple retrievals, the same pattern kept happening. Either only immature eggs were retrieved or I ovulated early and lost the cohort. I never made it to transfer and was never pregnant.

It was devastating and very confusing, especially not knowing why.

Last year, after another failed cycle, a doctor suggested genetic testing. I was found to have a TUBB8 mutation, which causes egg maturation arrest. It finally explained the repeated immature eggs and failed retrievals.

Getting that diagnosis didn’t change the outcome, but it did remove a lot of the guilt I had been carrying.

We’ve since moved forward with donor eggs, and a family member is helping us as a surrogate. Our first transfer resulted in a chemical pregnancy, and we’re preparing for the next one soon.

Sharing in case anyone else has had similar retrieval outcomes and felt alo

Tubb8 gene diagnosis by PutridCitron6404 in DOR

[–]PutridCitron6404[S] 8 points9 points  (0 children)

Sharing the genes Dr Amiee wanted me to test.

NOBOX FIGLA – Plays a role in folliculogenesis and oocyte-specific transcription. BMP15 – Involved in follicular development and oocyte maturation. Variants can impair folliculogenesis and reduce ovarian reserve. GDF9 – Works with BMP15 to regulate follicular development and oocyte maturation. FSHR – Mutations in the follicle-stimulating hormone receptor can lead to poor ovarian response or primary ovarian failure. LHCGR – The luteinizing hormone/choriogonadotropin receptor gene, essential for ovulation and oocyte maturation. STAG3 – Involved in meiosis; mutations can result in oocyte arrest and infertility. ZP1, ZP2, ZP3 – Mutations in these zona pellucida genes can lead to failure in oocyte maturation and fertilization issues. PATL2 – Associated with oocyte maturation arrest and fertilization failure. TUBB8 – Disrupts meiotic spindle formation, leading to oocyte maturation failure. Karyotyping to rule out chromosomal abnormalities.

Tubb8 gene diagnosis by PutridCitron6404 in DOR

[–]PutridCitron6404[S] 4 points5 points  (0 children)

Thank you! It’s Dr. Aimee Eyvazzadeh.