In part 3 of this Exclusive Interview, Rhoda Cobin talks with Diabetes in Control Medical Editor Joy Pape about looking at the genetics of PCOS and when the risk for PCOS can actually begin.
Rhoda H. Cobin, MD, MACE is Clinical Professor of Medicine at the Ichan School of Medicine at Mount Sinai in New York.
Transcript of this video segment:
Pape: And so, when does this risk begin?
Cobin: Early in life. Very early in life. So, there are some studies that have been done on people who we think we are genetically at risk because they’re members of the family. And they’ve been studied with interesting techniques to demonstrate insulin resistance over the course of their lives. And it looks as if that insulin resistance in people — in the family setting, at least, starts probably in late puberty. So, even before girls are fully developed in menstruating or could be identified as having PCOS by some of the other reproductive features, they may already have insulin resistance.
Pape: Sometimes there are mothers that will ask me about like their two-year old or three-year old, “You know, she’s overweight. She doesn’t eat that different, or may be hungrier than my other children.” What have we have found in toddlers and — or have we found anything?
Cobin: Yeah, I don’t think we found too much in that age group. Again, if you look at young children and actually if you look at newborns, there are some disorders, I’ll put it that way, that are really only detectable by very elaborate biochemical means that would not be done in the general population or would not even — I don’t think at this point, be done even in a youngster, but that may indicate that, yes, this may be genetically programmed. And that early on we’re seeing some things that might be clues. But not something that somebody is going to do in the doctor’s office or say, “Oh, I’m going to send you for this fancy test.” And again, stay tuned, because these tests, procedures and these studies of populations change over time. And so, in five years I might come to you and say, “Well, maybe we’ve got a test for that to see if that person is programmed.” And with that, I should just say that PCOS often occurs in familial settings. And there have been studies that show an increased risk of diabetes, an increased risk of hypertension, an increased risk of metabolic syndrome, and probably an increased risk of cardiovascular events in family members of women with PCOS. And not just women.
Cobin: So, men — so, fathers and brothers have been studied, sisters and daughters have been studied, and many of them show these defects. So, now some of the genetic studies and some of the family studies are focused at looking at these people and seeing, well, yes, “When can you pick this up and what would you do about it?” But to answer your question about a two-year old, the routine evaluation — pardon me — in a pediatrician’s office would be looking for thyroid disorders or other metabolic disorders, and hypothalamic obesity, some genetic disorders that can manifest themselves in children which are quite rare. But, yes, someday we might be able to say, “Yes, here’s a marker for PCOS.” Dr. Andrea Dunaif, who presented at our conference this week, actually showed some studies where they were measuring certain chemicals, certain abnormalities and chemicals that come from tissue that’s abnormal in PCOS people in wet diapers. So, they were bringing out diapers and sending the diapers to the lab, and wringing it out and measuring some urine metabolites of some steroid hormones, and showing that they might be abnormal even in babies. But right now, that’s not a doctor’s office procedure.