Optimizing Diagnosis and Management of PCOS in Pediatric Patients

Symptoms of PCOS typically manifest during the early pubertal years, though diagnosing this condition in adolescence remains a clinical challenge.

Polycystic ovary syndrome (PCOS) affects approximately 6% to 20% of women of reproductive age depending on diagnostic criteria.1 Though symptoms typically manifest during early pubertal years, diagnosing this condition in adolescent girls remains a clinical challenge.

Despite numerous studies aimed at determining a proximate origin for PCOS, clinicians are still unsure of the exact factors that contribute to PCOS development. Often, by the time a diagnosis is made, PCOS has become a “self-perpetuating vicious cycle” involving the neuroendocrine, metabolic, and ovarian systems, according to Selma Feldman Witchel, MD, of the University of Pittsburgh Medical Center Children’s Hospital in Pittsburgh, Pennsylvania, and colleagues in a mini review published in the Journal of the Endocrine Society.1

Furthermore, although PCOS typically develops during puberty, adolescent girls are underrepresented in research. “[M]ost relevant information has been accrued through clinical studies involving adult women,” noted Dr Witchel and colleagues, adding that these investigations typically focus on more severe PCOS phenotypes.1

In their review, the investigators provided clinicians with a general overview of PCOS diagnosis and management strategies in adolescents, as well as suggestions for developing individualized treatment plans.

Diagnosing PCOS

Based on Rotterdam criteria developed in 2003, after the exclusion of related disorders, patients must meet 2 of the following features to be diagnosed with PCOS: 1) oligo-ovulation or anovulation, 2) clinical and/or biochemical hyperandrogenism, or 3) polycystic ovaries.1

The 2012 Evidence-Based Methodology PCOS Workshop, which was sponsored by the National Institutes of Health, aimed to clarify these diagnostic criteria. The panel categorized PCOS into 4 phenotypes, which exist on a spectrum of decreasing specificity and severity:1-3

  • Phenotype A: hyperandrogenism, ovulatory dysfunction, and polycystic ovary morphology
  • Phenotype B: hyperandrogenism and ovulatory dysfunction
  • Phenotype C: hyperandrogenism and polycystic ovary morphology
  • Phenotype D: ovulatory dysfunction and polycystic ovary morphology

Nonetheless, use of the Rotterdam criteria in adolescents is challenging, noted Dr Witchel and colleagues, because irregular menses, cystic acne, mild hyperandrogenism, and multifollicular ovarian morphology are all typical of pubertal maturation.1 In addition, these symptoms mimic other potentially confounding diagnoses — including Cushing syndrome, congenital adrenal hyperplasia, androgen-secreting tumors, and thyroid dysfunction — which must be excluded before a diagnosis of PCOS can be made.

Classic features of PCOS that should be considered when investigating a possible diagnosis include:

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Irregular Menses

According to a longitudinal study, the median age of menarche for American adolescent girls is 12.25 years.1 The adult menstrual cyclicity can take 3 to 4 years postmenarche to mature, but by the third year, 90% of adolescent girls should naturally experience 10 or more menses annually.1 Current data drawn from a 2018 systematic review of adolescent menstrual patterns indicated that frequent or prolonged menstrual bleeding occurred in 23% and 33% of included adolescents, respectively.1,4 Investigators of another pilot study found that the coordinated development of all parts of the hypothalamic-pituitary-ovarian axis can take up to 5 years postmenarche to fully develop.1

Irregular menses in adolescents can be defined as:1

  • Normal in first year postmenarche
  • <21 days or >45 days from year 1 to 3 postmenarche
  • <21 days or >35 days (<8 cycles per year) from year 3 postmenarche onward
  • >90 days for any single cycle after first year postmenarche
  • Primary amenorrhea by age 15 years or >3 years after thelarche


The primary clinical sign of hyperandrogenism is hirsutism. Currently, the modified semisubjective Ferriman-Gallwey scoring system is widely used in assessing hyperandrogenism.1 Biochemical hyperandrogenism can be confirmed with documentation of elevated serum androgen concentrations; laboratory values for calculated free testosterone, free androgen index, calculated bioavailable testosterone, androstenedione, and dehydroepiandrosterone sulfate (DHEAS) should be measured in cases of suspected PCOS. However, direct free testosterone assays should not be used given limited reproducibility and inadequate accuracy.1