Amy DiVasta, MD, MMSc
Common symptoms are irregular periods, weight gain (or trouble losing weight), acne and excess facial and body hair.
Severity of symptoms can vary widely in patients and may get progressively worse with age.
The underlying cause is currently unknown, but the condition frequently runs in families.
Symptoms occur due to an imbalance in reproductive hormones and an overproduction of insulin from the pancreas.
Symptoms can often be managed effectively once a diagnosis is made.
Diagnosis is generally made based on medical history and laboratory tests.
Long-term risks include endometrial cancer, cardiovascular disease, diabetes and infertility.
The goals of treatment are to reduce symptoms and prevent long-term health complications of hormonal imbalances.
The most effective treatment for PCOS symptoms involves lifestyle changes, including healthful eating and regular exercise.
Hormonal medications, medications to prevent unwanted hair growth and insulin sensitizing agents frequently control symptoms.
Polycystic ovary syndrome
(PCOS) is the most common reproductive endocrine disease among women of childbearing age. It affects approximately 5 to 10
percent of all women and is a lifelong
condition. Fortunately, there are
treatments for the symptoms of PCOS.
Causes, symptoms and diagnosis
"We don't know what causes PCOS," says Amy DiVasta, MD, MMSc, a clinician in the Divisions of Adolescent Medicine and Gynecology at Children's Hospital Boston. "We know there's a genetic component since it runs in families, but
it hasn't been linked to a single gene."
PCOS occurs in both normal weight and overweight young women but is more common in overweight teens. Bringing weight within a healthy range can improve the symptoms of PCOS.
PCOS is associated with androgen excess, primarily due to ovarian
overproduction of testosterone. Multiple small follicles may develop in the ovary, which can lead to a slightly enlarged ovary or appear like a string of pearls on ultrasound. Many women with PCOS also have significant insulin resistance; these patients are at increased risk for the development of type 2 diabetes.
Symptoms often begin around menarche and include irregular menstrual cycles (oligomenorrhea or amenorrhea) but occasionally presenting with dysfunctional uterine bleeding. Many patients report difficulties maintaining a healthy weight. Other signs include hirsutism and acne. Girls with high insulin levels may have acanthosis nigricans, a rash of darkened skin around their neck or under their arms.
A clinical diagnosis can usually be made based on information obtained from a
medical history. Dr. DiVasta recommends that key screening questions at routine
physical exams should include:
How often do your periods occur?
Are you having problems keeping your weight where you want it to be?
Do you have any unwanted hair growth or acne?
Do you have a family history of menstrual irregularity, infertility or diabetes?
It's also important to pose this question to parents. Often, mothers who have been treated for PCOS or infertility have daughters who are at higher risk.
If clinicians suspect PCOS, they can order several blood tests and often an ultrasound
of the ovaries. These additional diagnostic tests can help eliminate or identify other
conditions that may cause similar symptoms, including thyroid disease, late-onset l
congenital adrenal hyperplasia or (very rarely) tumors.
Whether symptoms are severe or mild, PCOS places patients at risk for developing
long-term health complications, including infertility. Irregular periods can lead to overgrowth of the endometrial lining in the uterus and, if left unresolved, this can act as a risk factor for endometrial cancer later in life. Due to insulin resistance, patients with PCOS are also at a higher risk for developing type 2 diabetes and unfavorable lipid profiles, which increase the risk of cardiovascular disease. Obtaining a diagnosis and starting appropriate treatment early may help prevent some of these later complications.
Managing and treating PCOS
The most effective treatment involves lifestyle changes, such as incorporating healthful nutrition choices and regular exercise. Young women with PCOS who maintain their weight and body mass index within a healthy range may develop ovulatory cycles and improve insulin sensitivity, and may avoid problems with diabetes and infertility in the future.
Birth control pills can suppress androgen overproduction and help regulate menstrual cycles and prevent overgrowth of the lining of the uterus. Also, hormone medication can improve acne and prevent further unwanted hair growth that some girls experience.
In some cases, additional anti-androgen medications can be prescribed to address more extreme hair growth and acne. Furthermore, increasing evidence has shown that an insulin sensitizing agent called metformin, traditionally used by diabetics, may help symptoms in PCOS, improve insulin resistance and prevent the future development of diabetes.
When to refer
Girls with irregular menstrual periods, hirsutism and/or trouble maintaining a normal weight benefit from a referral to define the etiology of their symptoms and offer early treatment. Patients can meet with a Children's nutritionist for advice on dietary changes and fitness.
Schedule an appointment: 617-355-7181
More information: childrenshospital.org/adolescent
Children's Center for Young Women's Health: youngwomenshealth.org