Polycystic ovary syndrome (PCOS), the most common hormonal disorder among women of reproductive age, affects an estimated 8%-13% of women worldwide. Once viewed primarily as a reproductive disorder, PCOS is now recognized as a complex endocrine-metabolic condition with wide-ranging health consequences. Beyond infertility, PCOS increases the risk for type 2 diabetes (T2D), pregnancy complications, cardiovascular disease, metabolic dysfunction-associated steatotic liver disease (MASLD), and psychiatric conditions.

At the DGIM Endocrinology Essentials session, Andrea Martini, MD, Department of Endocrinology and Metabolism, Charité – Universitätsmedizin Berlin, Berlin, Germany, highlighted that “at least 1 in 10 women worldwide is affected; PCOS is a cardiometabolic risk factor, independent of patient age or body mass index.”

The syndrome often presents with prolonged menstrual cycles, lack of ovulation, and reduced fertility. On ultrasound, ovaries typically contain multiple small, unruptured follicles that appear as cyst-like structures.

Pathogenesis involves disruption of the hypothalamic-pituitary-ovarian axis, leading to increased androgen production from the ovaries and adrenal glands in some patients. Clinically, this may manifest as hirsutism, acne, or alopecia in some cases.

Up to two thirds of women with PCOS exhibit insulin resistance, and approximately half are overweight or obese.

“Although PCOS is relatively easy to diagnose, almost 70% of affected women actually go undiagnosed,” Martini emphasized.

Delayed diagnosis increases the risk for T2D, gestational diabetes, hypertension, metabolic syndrome, MASLD, and mood disorders.

Diagnostic Standards

According to Martini, a PCOS diagnosis requires meeting two of the three Rotterdam criteria.

• Oligo- or amenorrhea: Menstrual cycle disorders characterized by infrequent or absent menstrual bleeding
• Hyperandrogenism or hyperandrogenemia: Elevated androgens in the blood or clinical signs such as acne, excess body hair (hirsutism), or scalp hair loss (alopecia)
• Polycystic ovaries on ultrasound: Multiple small ovarian follicles often mistaken for cysts, which are benign

Martini highlighted the importance of measuring thyroid-stimulating hormone, 17-hydroxyprogesterone, and prolactin levels as part of the basic diagnostic workup. Differential diagnosis should consider late-onset congenital adrenal hyperplasia, prolactinoma, thyroid disorders, ovarian insufficiency, Cushing syndrome, and androgen-secreting tumors.

He added, “If a patient develops rapid or severe hyperandrogenism, a tumor must always be ruled out”; hirsutism can be evaluated using the modified Ferriman-Gallwey score.

Cardiometabolic Risk

PCOS significantly increases cardiometabolic risks, and Martini reported that women with PCOS have a 3.2-fold higher risk for T2D.

Pregnancy complications were also elevated: gestational diabetes (odds ratio [OR], 2.4), pregnancy-induced hypertension (OR, 2.2), and preeclampsia (OR, 2.3).

Metabolic syndrome risk doubles, and arterial hypertension risk increases 1.7-fold.

Patients with PCOS have higher low-density lipoprotein (LDL) cholesterol than age-matched controls; cardiovascular risks include myocardial infarction (OR, 2.1-2.5), atrial fibrillation (OR, 2.2), heart failure (OR, 1.3), and stroke (OR, 1.3-1.7).

The risk for MASLD is approximately 2.2-fold higher; “even very slim patients show increased MASLD risk, and sleep apnea occurs independently of BMI,” Martini noted.

Screening

Premenopausal women with type 1 diabetes or T2D should be screened for PCOS.

The S2k guideline “Diagnosis and Treatment of PCOS” recommends cardiometabolic evaluations for patients with PCOS, as listed below.

• T2D, prediabetes, or insulin resistance: Measure A1c and/or fasting blood glucose and perform an oral glucose tolerance test at diagnosis, with repeat testing every 1-3 years.
• Lipid disorders: Obtain a full lipid profile, including total cholesterol, LDL, high-density lipoprotein (HDL), triglycerides, non-HDL cholesterol, and lipoprotein(a), at baseline and follow-up.
• Arterial hypertension: Monitor blood pressure at least once a year.
• MASLD: If alanine aminotransferase (formerly glutamate pyruvate transaminase) is elevated, refer to hepatology evaluation with imaging, laboratory tests, and scoring systems.
• Obstructive sleep apnea: Screen with validated tools, such as the Berlin questionnaire, followed by pulmonary function testing or sleep studies, as indicated.
• Mental illnesses are frequently associated with PCOS and should be addressed directly during consultation.

Treatment

For patients who are overweight or obese, weight loss is recommended. A balanced diet, regular exercise, and physical activity remain the cornerstones of diabetes prevention and lipid control.

Treatment is tailored to the phenotype of PCOS; for patients primarily seeking fertility, without significant hair loss or acne, the first-line therapy is letrozole, with clomiphene or metformin as alternatives; second-line therapy is gonadotropins; and third-line therapy is in vitro fertilization if indicated.

Martini added, “If full-blown PCOS with hyperandrogenism is present, the first-line treatment is always an oral contraceptive”; in cases of severe hyperandrogenism, an oral contraceptive may be combined with spironolactone.

In the presence of peripheral insulin resistance, the insulin sensitizer metformin can reduce insulin requirements, improve menstrual cycle regularity, support weight loss, and potentially increase pregnancy rates.

For the local treatment of hyperandrogenism, eflornithine and epilation are options for hirsutism, and minoxidil can be used for androgenetic alopecia.

Mild acne can be treated with benzoyl peroxide or topical retinoids; moderate acne can include antimicrobials such as doxycycline; and for severe acne, supplemental treatment with isotretinoin can be considered. Metformin may be used regardless of acne severity when clinically appropriate.

This story was translated from Medscape’s German edition.