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Research Breakthrough May Lead To Early Diagnosis of PCOS

A recent worldwide study has significantly advanced understanding of the possible genetic roots of polycystic ovary syndrome (PCOS), one of the leading causes of infertility in women[1]. Dr. Mark Trolice, Director of Fertility CARE: The IVF Center, notes that the new study also provides the first genetic evidence of a causal link between PCOS and depression[2].

“Infertility is a devastating, paralyzing diagnosis, and the depression that often accompanies PCOS can interact with misplaced guilt, making it even harder to handle,” said Dr. Trolice.

PCOS is an hormonal disorder that disrupts ovulation function and increases the risk for serious metabolic disorders. It is considered the most common cause of ovulation disorders and infertility in women. Health risks associated with PCOS include type 2 diabetes, elevated cholesterol, abnormal uterine bleeding, male pattern hair growth, uterine cancer, high blood pressure, depression and anxiety[3].

PCOS is relatively common—according to the U.S. Department of Health and Human Services Office on Women’s Health it affects up to 20 percent of women[4]. However, patients manifesting symptoms of the condition have experienced significant difficulty obtaining an accurate diagnosis and information about treatment options. In an internet survey of 1,385 women diagnosed with PCOS, more than a third of respondents said they spent more than two years and consulted at least three healthcare providers in the process of seeking a diagnosis[5].

While the recent large-scale genetic analysis did not yield a pinpoint diagnostic tool for PCOS, it did turn up a rare genetic variant on a gene that helps drive testosterone production in the ovaries. Too much testosterone is one of the hormonal abnormalities seen in PCOS patients, so this variant could be a marker for the early detection of PCOS[6].

Despite common perceptions by some patients and physicians, the diagnosis of PCOS is straight forward and occurs when a woman fits two of three criteria:

1. Irregular periods or ovulation dysfunction

2. Male-pattern hair growth or elevated blood levels of male hormones

3. One or both ovaries that are enlarged (greater than 10cm[3]) and/or have an increased number of small ovarian cysts (antral follicles greater than 20).

Since there is no cure for PCOS, the management depends on the woman’s desire for conception. Unless pregnancy is desired, the birth control pill and appropriate body weight are the best approaches. For fertility, options include ovulation induction with medication or surgery (called ovarian drilling) as well as IVF (in vitro fertilization).

“Many women ultimately opt for in vitro fertilization if PCOS keeps them from pregnancy,” said Dr. Trolice. “We encourage addressing their medical health as a priority and then focusing on fertility. Above all, we encourage them not to blame their infertility struggles on themselves. Women will say, ‘I did something wrong,’ to which we respond, no. You did nothing wrong. There are many options; let’s find the best one for you.”

Dr. Trolice will present a seminar on living with PCOS On September 22, at the upcoming PCOS Awareness Symposium in Orlando.

About Fertility CARE: The IVF Center
Fertility CARE (Center of Assisted Reproduction and Endocrinology): The IVF Center provides patient-centered, evidence-based, and individually customized reproductive care in a comfortable and compassionate setting. This Central Florida IVF clinic is the most successful facility of its kind in the Orlando area, and consistently earns 5-star patient ratings in online reviews. Established in 2003 by founder and director Dr. Mark P. Trolice, it is the only fertility clinic in the country to offer both male and female testing, evaluation, and treatment. Today, the practice encompasses the Center for Male Infertility, headed by a fellowship-trained male reproductive specialist; the Mind/Body Institute, overseen by a licensed clinical reproductive psychologist; and the IVF Laboratory of Central Florida, led by a Board-certified high complexity laboratory director. Fertility CARE - The IVF Center offers a comprehensive range of infertility tests and treatment options as well as genetic testing, egg freezing with fertility preservation, egg donation, embryo cryopreservation, surrogacy and other services. For full details, visit

About Dr. Mark P. Trolice
Mark P. Trolice, M.D., is the founder and Director of Fertility CARE - The IVF Center. He also serves as Associate Professor of Obstetrics and Gynecology (OB/GYN) at the University of Central Florida College of Medicine in Orlando and Medical Director of the Egg Donor Program at Cryos International, the world’s largest sperm donor bank. Dr. Trolice is Board-certified in OB/GYN and reproductive endocrinology and infertility (REI), and he is a Fellow of the American Colleges of Obstetrics and Gynecology (FACOG), Surgeons (FACS), and Endocrinology (FACE). Renowned as Orlando’s most successful fertility specialist, Dr. Trolice and his wife battled infertility for over 10 years before adopting their children. This journey gave him unique insights into patients’ struggles and is included in his forthcoming book, “The Fertility Doctor's Guide to Overcoming Infertility—Discovering Your Reproductive Potential and Maximizing Your Odds of Having a Baby” from Harvard Common Press. Dr. Trolice is a sought-after expert with dozens of broadcast and print appearances in addition to national acclaim as one of America’s Top Doctors® and repeat recipient of the American Medical Association’s “Physician’s Recognition Award”. In January 2019, he launched his "Fertility Health" podcast interviewing nationally renowned experts on vital topics in reproductive medicine. Learn why he has earned the trust of patients and physicians alike:

1.    Hager, Rachel, “Genetic Breakthrough Identifies PCOS-Risk Genes,” Utah Public Radio, January 24, 2019.
2.    Day, F. et al., “Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria,” PLOS Genetics, December 19, 2018.
3.    Smith, Lori, “What is polycystic ovary syndrome?”, Medical News Today, January 5, 2018.
4.    Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO. The prevalence and phenotypic features of polycystic ovary syndrome: a systematic review and meta-analysis. Hum Reprod 2016;31:2841–55..
5.    Cree-Green, Melanie, “Worldwide Dissatisfaction With the Diagnostic Process and Initial Treatment of PCOS,” Journal of Clinical Endocrinology & Metabolism, February 1, 2017.
6.    Gordon, Serena, “1st Gene Linked to Polycystic Ovary Syndrome,” WebMD, May 1, 2019.

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