August 7th, 2025 | 6 min. read
Ovulatory dysfunction is one of the most common causes of infertility — yet its genetic roots remain largely unexplored. In this article, Senior Embryologist Dr. Erin DiPietro shares what inspired her to investigate this topic and what her research reveals about the intricate role genetics can play in reproductive health.
In this article:
A New Lens on Infertility
As a Senior Embryologist at Illume Fertility, I have the utmost respect and admiration for people who undergo in vitro fertilization (IVF) or any other fertility treatment. I see every day how much physical, emotional, and financial effort is invested in the hope of having a child.
It can be just as frustrating for clinicians and laboratory staff when the tools we already have, such as bloodwork, ultrasounds, and embryo assessment, do not always give us the answers we need.
That is what led me to dig deeper into the root causes of certain infertility diagnoses that remain unexplained. For me, the next frontier was genetics. I believe genetics is the future of medicine, and it is going to become an even larger part of IVF over the coming years.
That idea both excites and motivates me.
Why Focus on Ovulatory Dysfunction?
Ovulatory dysfunction, when a person does not ovulate regularly or at all, is one of the most common causes of infertility.
Conditions such as polycystic ovary syndrome (PCOS) and primary ovarian insufficiency (POI) fall under this umbrella, but there are also many patients whose ovulatory challenges do not fit neatly into either category.
The aim of my research was simple in theory but ambitious in scope: identify all of the genetic variants already established in the literature in humans and compile that information into one place. My hope was that creating this resource would help researchers and clinicians see patterns that may have been invisible when looking at each small study on its own.
Conducting a Scoping Review
This project became an integral part of my doctoral dissertation at Clemson University. I conducted what is called a scoping review, systematically gathering and summarizing every relevant study on the genetics of ovulatory dysfunction in humans.
Much of what exists in this field comes from small scale studies, even single case reports. By compiling them all, I was able to cross reference findings and increase confidence in the results.
I also performed genetic categorization analysis, which revealed that different types of ovulatory dysfunction are associated with unique genetic profiles.
Research Terms, Explained
Scoping Review: A type of research that gathers and organizes all the studies available on a specific topic to see what we already know, where the gaps are, and how future research could address them.
Genetic Categorization Analysis: A research method used to organize and classify genetic variants (changes or mutations in DNA) into meaningful groups based on their characteristics, functions, or associations with specific traits or conditions.
What the Research Says
When I analyzed the genetic data from all the studies, clear patterns began to emerge for different types of ovulatory dysfunction. Here's a simplified summary of what I found:
- Polycystic Ovary Syndrome (PCOS): Many genetic variations found in PCOS were linked to hormone‑related genes. These genes help regulate reproductive hormones like luteinizing hormone (LH) and follicle‑stimulating hormone (FSH), which play a critical role in triggering ovulation. Even small changes in these genes may disrupt hormone balance, making it harder for ovulation to occur regularly.
- Primary Ovarian Insufficiency (POI): In POI, the genetic differences were more often connected to genes that influence how eggs develop (a process called oogenesis) and other essential cellular functions that support ovulation. These changes can cause the ovaries to stop working normally before age 40, sometimes with little warning.
- Other Forms of Ovulatory Dysfunction: For patients whose conditions don’t fit neatly into PCOS or POI, distinct genetic patterns also appeared. While more research is needed to fully understand these variations, they suggest there are additional, unique biological pathways involved in ovulatory problems.
What makes these findings important is that each category of ovulatory dysfunction is tied to different types of genes with specific roles in regulating ovulation.
Recognizing these differences could eventually help doctors design treatments that are more targeted — addressing the root cause rather than applying a one‑size‑fits‑all approach. This could mean more effective therapies, fewer unsuccessful treatment cycles, and a shorter path to pregnancy for many patients.
Is PCOS hereditary?
A PCOS advocate and mother of three daughters with PCOS explores the connection between genetics and the condition.
Why This Matters for You
While this research isn’t something that can be directly applied in the clinic yet, it represents an important step toward more personalized fertility care. Think of it as building the foundation for tools and treatments that could one day make a real difference for patients facing ovulatory disorders.
By compiling all known genetic variants linked to ovulatory dysfunction into one resource, we can push this research forward and identify new ways to individualize treatment plans for patients. The following is a brief glimpse into what this work can accomplish:
1. Guide larger genomics studies and targeted research projects
This comprehensive reference helps scientists identify patterns that might be missed in smaller, isolated studies, accelerating the pace of discovery.
2. Inform the creation of more precise genetic testing panels
In the future, patients with unexplained ovulatory dysfunction may have access to tests that can pinpoint the genetic factors involved in their condition.
3. Pave the way for more tailored treatment strategies
Understanding a patient’s unique genetic profile could allow fertility specialists to choose medications, protocols, and interventions that have the highest chance of success for that individual.
4. Reduce the trial‑and‑error approach in fertility care
Instead of cycling through multiple treatments to see what works, genetic insights could help match patients with the most promising options sooner.
Ultimately, this type of research moves us closer to a future where fertility care is not just reactive, but proactive — informed by each patient’s genetic makeup and designed to give them the best possible chance at success.
The Process Behind the Publication
From concept to publication, this project took about a year and a half to two years.
- The design phase lasted several weeks, followed by months of data gathering and analysis.
- After writing and formatting the review for publication, the process of peer review and acceptance took more than a year.
One reason for the extended timeline was my choice to publish in an open access journal. It was important to me that anyone, patients, clinicians, and researchers, could access these findings without cost or restriction.
Looking to the Future of Fertility Care
Genetics
is already transforming the way we understand health and disease, and reproductive medicine is no exception. I see a future where a patient’s unique genetic profile can help predict which treatments are most likely to work for them, reducing the need for trial and error and shortening the path to success.
Our patients are my inspiration. When the existing tools fall short, I believe it is our responsibility to keep asking questions until we find better answers. This research is one step in that journey.
If you would like to learn more about my work, Illume Fertility’s research efforts, or how we diagnose and treat ovulatory dysfunction, visit our Learning Center or reach out to our team to schedule a consultation.
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