Polycystic ovary syndrome (PCOS) diagnostic criteria

Thyroid dysfunction, congenital adrenal hyperplasia, hyperprolactinaemia, androgen-secreting tumours and Cushing’s syndrome must to be excluded before making a diagnosis of PCOS (1).

• in 2003, the Rotterdam European Society for Human Reproduction/American Society of Reproductive Medicine (ESHRE/ASRM)-sponsored PCOS consensus workshop group proposed that the diagnosis include two of the following three criteria: (2)
  • oligo- and/or anovulation
  • clinical and/or biochemical hyperandrogenism
  • and polycystic ovaries on ultrasound; other etiologies must be excluded
  • by adding the polycystic ovaries criterion, the Rotterdam definition extended the diagnosis of PCOS to women with oligo-ovulation and polycystic ovaries (nonhyperandrogenic), as well as to women with hyperandrogenism and polycystic ovaries (ovulatory), both of whom would not have met the narrower NIH criteria for PCOS
    • has been argued that the expanded Rotterdam criteria can result in an overdiagnosis or misdiagnosis of PCOS; also different phenotypes may not have similar risks of long-term metabolic morbidities
      
      
• in 2009, the Androgen Excess and PCOS (AE-PCOS) Society published a task force report emphasizing that PCOS is primarily a hyperandrogenic disorder and proposed revising the definition to (3)
  • hyperandrogenism (hirsutism and/or hyperandrogenemia) and ovarian dysfunction (oligo-anovulation and/or polycystic ovaries)
  • thereby encompassing the Rotterdam ultrasound criteria but requiring hyperandrogenism for the diagnosis
    
    
• PCOS task force recommends to utilize either follicle number per ovary (>=25) when a sophisticated US transducer >= 8MHz is available or, otherwise, an ovarian volume of >=10 ml to define PCOS morphology (4)

Suggested differential diagnoses and screening tests (1)

• pregnancy - pregnancy test
  
  
• hypothyroidism - TSH
  
  
• hyperprolactinemia - PRL
  
  
• late-onset CAH (congenital adrenal hyperplasia) - 17-hydroxyprogesterone
  • an early-morning, early follicular-phase plasma level of 17-hydroxyprogesterone of less than 200 ng per dl effectively rules out 21-hydroxylase deficiency, which is the most common cause of nonclassic congenital adrenal hyperplasia
    
    
• ovarian tumour - total testosterone
  
  
• hyperthecosis - total testosterone
  
  
• adrenal tumour - dehydroepiandrosterone sulfate (DHEAS)
  
  
• Cushing's syndrome - 24-hour urine free cortisol

References:

1. Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome. J. Clin Endocrinol Metab. 2023 Sep 18;108(10):2447-2469
2. Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, authors. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81:19-25.
3. Azziz R, Carmina E, Dewailly D, et al. Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society. The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report. Fertil Steril. 2009;91:456-488.
4. Dewailly D., Lujan M.E., Carmina E., Cedars M.I., Laven J., Norman R.J. Definition and significance of polycystic ovarian morphology: a task force report from the androgen excess and polycystic ovary syndrome society. Hum Reprod Update. 2014;20(3):334-352