Living with PCOS (polycystic ovary syndrome) can feel overwhelming. Irregular cycles, difficulty conceiving, weight changes and the constant frustration of not having clear answers are a reality for up to one in ten women worldwide. For years, researchers have known PCOS runs in families, but the genetic explanation has never quite fit. Until now.

In this episode Dr Renee White explores groundbreaking PCOS research from China that could transform how we understand PCOS inheritance. The study suggests it may not just be our DNA, but epigenetics, the chemical tags that sit on top of our genes and influence how they are expressed, that play a role in how PCOS is passed from mother to daughter.

This early research could be the missing piece in explaining why PCOS is so common in families and what it may mean for prevention, fertility treatment and long-term health.

You’ll hear about:

• How PCOS is currently diagnosed and why genetics alone do not explain the condition
• What epigenetics means and how it may influence PCOS inheritance
• Key findings from a study of eggs and embryos in women with PCOS
• Why this new PCOS research is exciting but still very preliminary
• What this could mean for future fertility treatment, risk assessment and support for women living with PCOS

Science is always evolving. While there is no cure for PCOS yet, research like this brings us closer to better answers, better care and more hope for women navigating this condition.

Resources and Links:

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Disclaimer: The information on this podcast presented by Fill Your Cup is not a substitute for independent professional advice.

Nothing contained in this episode is intended to be used as medical advice and it is not intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professional's advice.

[00:00:27] Dr Renee White: I'm Dr. Renee White, and this is the. [00:00:30] Science of motherhood. Hello and welcome to episode 191 of The Science of Motherhood. I am your host, Dr. Renee White. Thank you so much for joining me today. Today's episode is proudly brought to you by Fill Your [00:00:45] Cup, Australia's leading doula village now. If you don't know what a doula is, it's not a jeweler.

[00:01:16] Dr Renee White: So for all those playing at home, you probably, some of you might think, what is a doula? A doula is essentially, we're the Mary Poppins of mothers. In a nutshell, we're non-medical professionals. [00:01:30] We are your birth BFFs. We support you during IVF. I did that last year. During pregnancy, during birth, during postpartum, [00:01:45] we hold your hand.

[00:02:17] Dr Renee White: Not the chaos. And we have been supporting mums across Australia for the past five years now, which is just amazing. If you are [00:02:30] new, you might, you might be thinking, hold on a minute. I like the sound of this doula thing. Can I have a doula? Well, if you are in Hobart, Melbourne, [00:02:45] Geelong. Newcastle, Sydney, Perth, Brisbane, the Gold Coast, and now Central Coast.

[00:03:21] Dr Renee White: If this sounds amazing to you, if you wanna take the mental load off birth and pregnancy and postpartum. You [00:03:30] want someone who you trust, who you know can answer all those questions. When you're feeling overwhelmed, stressed out, you might not have friends and family close by. Your partner might be running their own business and they just [00:03:45] cannot take a extended leave when bubby arrive.

[00:04:12] Dr Renee White: Alright. Today [00:04:15] we are diving into groundbreaking research that could revolutionize how we understand and potentially prevent one of the most common hormonal disorders affecting women of reproductive age. [00:04:30] We are talking about polycystic ovary syndrome or PCOS as it's typically, uh, referred to as now.

[00:05:10] Dr Renee White: We've never quite fit together up until recently. Maybe [00:05:15] let's dive into it now researchers in China think they have found a missing piece of that puzzle, and it's not in our DNA sequence itself. So it's actually in chemical [00:05:30] tags that sit on top of our genes controlling which ones get turned on and turned off.

[00:06:08] Dr Renee White: We're gonna put our research caps on. We're gonna talk about, uh, what did they actually [00:06:15] find in this study? What does it mean for women with PCOS? And I guess we always need to look at what the limitations are that we need to consider. Always, there is always gonna be limitations to research. If you are [00:06:30] new to the podcast, hello and welcome, so you will, you'll know for after today's episode that we are not just fairy floss and lollipops here.

[00:07:03] Dr Renee White: Now, though these are actually immature eggs that haven't been released. Now, PCOS clearly runs in [00:07:15] families. If your mother has it, your risk increases significantly. If you're an identical twin and your twin has PCOS, your chance of having it is too is, it's about 70%. [00:07:30] Now, this strong, familial kind of clustering suggests genetic, you know, there are genetics at play, right?

[00:08:24] Dr Renee White: Now, this is where epigenetics comes in. We're gonna get a little [00:08:30] sciencey here, people, so here we go. Think of your DNA as a massive library of books. Okay, so they are your genes. Now the epigenetic [00:08:45] markers are like little post-it notes stuck on those books telling the cell. Which books to read and which to ignore.

[00:09:32] Dr Renee White: But some markers survive this, you know, erasing process and could potentially be passed from mum to child. And in previous [00:09:45] studies in mice, this is what we have to do in research. We have to start with mice and then work our way up to humans. In previous studies, it's was suggested that this might happen with PCOS, but until now.[00:10:00]

[00:10:41] Dr Renee White: Now the team from China [00:10:45] analyzed biological material from 228 donors, 133 women with PCOS and 95 without. And they looked at, they looked at the eggs and [00:11:00] three day old embryos examining three specific types of epigenetic markers that I guess control that gene activity. So whether they're turning it on, turning it off, now what [00:11:15] they found was striking.

[00:11:50] Dr Renee White: You know those cotton reels that we have and they wind up and that's what you have for sewing machines. So the DNA is the cotton and the histones are the actual cotton reels [00:12:00] that actually have the DNA wound around them. So that's just the visual. So they found that the DNA coil more tightly around the, histones essentially silencing them.

[00:12:36] Dr Renee White: So mothers with PCOS might be passing on epigenetic instructions that [00:12:45] essentially predispose their daughters to developing the condition. But here's where it gets really interesting from a potential treatment perspective. The team used a drug to [00:13:00] reverse these epigenetic changes in the lab, and this suggests that if we could identify the right interventions, we might be able to prevent PCOS [00:13:15] inheritance, which is kind of cool.

[00:13:45] Dr Renee White: So that is a cool kind of add, value add as well. All right guys. Here comes the critical analysis, Baba ba. Uh, so let's pump the brakes a bit, okay [00:14:00] cause this is all sounding really fab, but we need to look at this, you know, with a fine lens and examine this research critically. Now, while these findings are very intriguing, there are several important limitations and concerns we need [00:14:15] to address.

[00:14:37] Dr Renee White: People jump on correlation and just go, bam, okay that that's what causes that. So we don't yet [00:14:45] have evidence that these epigenetic differences actually cause PCOS in the next generation. And again, Dr. Stenner Virin, who wasn't involved in the study, points this out clearly and she quotes for now, [00:15:00] we just know that those markers are different.

[00:15:30] Dr Renee White: Now, this study was actually presented at a conference. Okay, not published in a peer review journal and while conference presentations can highlight important preliminary findings, they often lack the detailed [00:15:45] methodology, the statistical analysis, the critical review that comes with publications. Now we're missing key information about sample sizes, statistical significance, effect sizes, potential confounding [00:16:00] factors, and all of those things.

[00:16:25] Dr Renee White: The third, I guess the leap to, to [00:16:30] treatment, the jump from, we found different epigenetic markers to we could prevent PCOS with drugs. It's a bit premature, guys. Okay. So like as scientists, we always. Wanna be able to do that and say we're gonna cure the world. But you know, pump, [00:16:45] pump the brakes, guys. So they showed they could reverse epigenetic changes in a lab dish, but this is vastly different from safely and effectively modifying epigenetic markers in living human beings, especially in the context of [00:17:00] reproduction like that is a big, big feat.

[00:17:38] Dr Renee White: But I guess, you know the bigger picture, PCOS is a really complex [00:17:45] condition. We know that it's influenced by genetics, it's influenced by environment, lifestyle, all other factors. Even if epigenetic inheritance plays a role, it's unlikely [00:18:00] to be the whole story. So I guess despite these limitations, this research, it, it really does open up like an important avenue for investigation and that's what we always love from research.

[00:19:08] Dr Renee White: It represents a really exciting frontier in reproductive health research. It could [00:19:15] explain the missing heritability puzzle and potentially open doors to prevention strategies we never imagined possible. Alright, guys. Until next week, I will see you. [00:19:30] Bye.

[00:19:55] Dr Renee White: Head to our website I fill your cup.com to learn more about [00:20:00] our birth and postpartum doula offerings where every mother, we pledge to be the steady hand that guides you back to yourself, ensuring you feel nurtured, informed, and empowered, so you can fully embrace the joy of motherhood with confidence. [00:20:15] Until next time, bye.