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Primary 4

A 23-year-old woman presents to her primary care physician for a complaint of irregular menstruation. She states she has had 6 menstrual periods during the past 12 months. Prior to last year her menstrual cycles occurred every 28-30 days, lasted for 4-5 days, and had moderate flow. Menarche was at age 13. Past medical history is otherwise negative. The only medication she is currently taking is a daily multivitamin. She does not smoke cigarettes or drink alcohol and currently works as a graduate student. Vital signs are within normal limits except for a body mass index (BMI) of 30 kg/m². Physical examination reveals small hairs on the patient’s upper lip and chin and several small <1 mm comedones scattered around her forehead. A complete blood count (CBC) and chemistry panel are within normal limits. Urine pregnancy test is negative.

Which of the following is required to establish the most likely diagnosis in this patient?

A) Detailed family history
B) No further testing is indicated
C) Pelvic ultrasound
D) Serum fasting blood glucose level
E) Serum testosterone level

B) No further testing is indicated

The Rotterdam criteria, established in 2003, are widely used for diagnosing polycystic ovary syndrome (PCOS). These criteria require the presence of at least two out of three key features:

Evidence of oligo-ovulation (defined as infrequent menstrual cycles and typically characterized by menstrual cycles longer than 35 days); or anovulation (defined as the absence of menstrual periods and in the context of PCOS, this refers to secondary amenorrhea.
Clinical and/or biochemical signs of hyperandrogenism. Clinical signs include: hirsutism, acne, or male-pattern baldness. Biochemical signs include: elevated serum androgen levels (e.g., testosterone, androstenedione).
Polycystic ovaries on ultrasound. This is defined as having at least one ovary with an ovarian volume > 10 mL and/or 12 or more follicles measuring 2-9 mm in diameter.

The patient in this vignette has met two of three of the Rotterdam Criteria since she has oligo-ovulation (6 menstrual cycles in the last year with prior normal cycle length) and clinical signs of hirsutism (hair on upper lip and chin and acne). No further testing is needed to make the diagnosis.

Treatment consists of conservative/lifestyle approaches such as diet and exercise, and pharmacotherapy such as combined oral contraceptive pills (OCPs), metformin for underlying insulin resistance thought to be at the core of the pathophysiology, anti-androgens, and clomiphene citrate and letrozole for infertility.

Answer choice A: Detailed family history, is incorrect. While PCOS does demonstrate a strong hereditary component (8), a detailed family history is not considered necessary to diagnose PCOS.

Answer choice C: Pelvic ultrasound, is incorrect. While a pelvic ultrasound could demonstrate polycystic ovaries, this woman already satisfies the Rotterdam Criteria so a pelvic ultrasound is not necessary for diagnosis.

Answer choice D: Serum fasting blood glucose level, is incorrect. While serum fasting blood glucose may be elevated due to the underlying insulin resistance found in many patients with PCOS, this is not part of the diagnostic criteria. While this value may be helpful to determine if anti-diabetic agents are indicated for this patient, it is not necessary for diagnosis

Answer choice E: Serum testosterone level, is incorrect. While serum testosterone is usually elevated in a patient with PCOS, this woman already has clinical signs of hyperandrogenism, thus biochemical signs are not necessary for diagnosis.

Key Learning Point

The Rotterdam Criteria are considered the gold standard for the diagnosis of PCOS. They require 2 of 3 of the following to make a diagnosis: 1) Oligo or anovulation, 2) clinical or biochemical signs of hyperandrogenism, and 3) polycystic ovaries on ultrasound.