Women with polycystic ovary syndrome (PCOS) often spend years trying to get the right diagnosis. A new study about the syndrome’s genetic roots may help to change that.
A new study’s results are a step forward in dealing with PCOS, a leading cause of infertility in women. The recent study published in the Journal of Clinical Endocrinology & Metabolism supports what we have thought for years: that PCOS runs in families. Given the genetic link suggested in this study, gene therapy may help not only with managing PCOS, but potentially curing it.
The study revealed 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 early detection. This same study also provided the first genetic evidence of a causal link between PCOS and depression.
PCOS, which affects up to 20 percent of women, is a hormonal disorder that disrupts ovulation function and increases the risk for serious metabolic disorders. Symptoms include irregular periods, unexplained weight gain, excessive body hair growth, oily skin or acne, hair loss and difficulty getting pregnant.
- It is the leading cause of infertility based on ovulation dysfunction.
- The National Institutes of Health estimates that more than half of women with PCOS will become prediabetic or diabetic before age 40.
Delays in Diagnosis
PCOS is notorious for the length of time it often takes to be diagnosed.
In a widely cited medical study, one-third of women reported it took more than two years and more than three healthcare professionals to get a diagnosis. An estimated 50 percent of the women living with the hormonal imbalance are undiagnosed, according to The National Polycystic Ovarian Syndrome Association.
The diagnosis of PCOS is generally based on meeting two out of three criteria from the following clinical guidelines that were established in 2003:
- Ovulation dysfunction (menstrual intervals of more than 35 days, or less than eight cycles/year) or lack of ovulation. A regular monthly menstrual cycle is not proof of ovulation. Blood testing is necessary to determine if ovulation is taking place.
- Elevated androgens (testosterone) or hirsutism (unwanted dark hair in male pattern areas).
- A “string of pearls” appearance of the ovaries, which can be seen in a vaginal pelvic ultrasound.
Signs and symptoms of PCOS
PCOS involves a vicious cycle of hormone imbalance. Hormones are simply proteins produced in one organ that effect other parts of the body. The main hormones involved in PCOS are GnRH, (Gonadotropin Releasing Hormone), FSH (Follicle Stimulating Hormone), LH (Luteinizing Hormone), estradiol (the most common estrogen), progesterone, testosterone and insulin.
PCOS has diverse and often debilitating symptoms, including:
Irregular menstrual cycles, infertility and pregnancy complications. A chronic lack of ovulation results in abnormal vaginal bleeding that can result in anemia. The birth control pill is usually very effective at controlling bleeding. Pregnancy complications from PCOS include miscarriage, diabetes and high blood pressure.
Hirsutism (cosmetically disturbing adult hair growth in male pattern areas). A consequence of elevated androgens resulting in ovulation dysfunction, hirsutism can be seen in up to 70 percent of women with PCOS.
Psychological problems, including depression and anxiety. Health professionals must be vigilant regarding the psychological consequences of PCOS. Given the known association of anxiety and depression with PCOS, clinicians should screen all women for risk factors.
Obstructive sleep apnea. This is most common in obese women.
Additionally, women with PCOS are at higher risk for:
Endometrial cancer. Women with PCOS have a two- to six-fold increased risk of endometrial cancer. This is due to dysfunctional ovulation dysfunction that causes estrogen build up in the uterine lining. Signs of concern are menstrual intervals over 90 days and/or an abnormally thick uterine lining. Treatment begins with progesterone. In extreme cases, a hysterectomy may be necessary.
Metabolic syndrome. Almost 40 percent of women with PCOS also have metabolic syndrome, which is defined as having three or more of the following conditions:
- Excess body fat around the waist
- Elevated blood pressure
- Elevated triglycerides (a type of fat in blood)
- Elevated blood sugar
- Low HDL (good cholesterol)
Metabolic syndrome increases the risk of heart attack, stroke, heart failure and diabetes.
Almost all PCOS symptoms can be improved with lifestyle and behavior modification, particularly maintaining a healthy weight. Even a 5 to 10 percent weight loss has been shown to improve ovulation.
Since there is no cure for PCOS, management depends on the woman’s desire to have children.
- Unless pregnancy is desired, the birth control pill and maintaining an appropriate body weight are the best approaches.
- For fertility, options include ovulation induction with medication or surgery (called ovarian drilling) as well as in vitro fertilization (IVF).
- With early diagnosis, women can consider the option of freezing their eggs in case fertility is compromised.
Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome — https://academic.oup.com/jcem/article-abstract/104/9/3835/5481046 [Link last visited 9/24/2019]
Worldwide Dissatisfaction With the Diagnostic Process and Initial Treatment of PCOS — https://academic.oup.com/jcem/article/102/2/375/2972092?searchresult=1 [Link last visited 9/24/2019]