Polycystic ovary syndrome: definitions, phenotypes and diagnostic approach

Front Horm Res. 2013;40:1-21. doi: 10.1159/000341673. Epub 2012 Oct 18.


Polycystic ovary syndrome (PCOS) constitutes a continuum spectrum of symptoms starting from the early prepubertal years and continuing after menopause. The phenotypic expression varies through time, depending on several internal (e.g. ovarian/adrenal steroidogenesis, insulin resistance) and external factors (e.g. quality and quantity of food, exercise). Moreover, the emergence of new definitions with the use of ovarian morphology, besides chronic anovulation and hyperandrogenism, as diagnostic criteria, increased the phenotypic variety of PCOS presentation. In this review, the clinician is provided with useful information regarding grey zones in assessing anovulation, hyperandrogenism, ovarian morphology and the difficulties in differential diagnosis of PCOS. Furthermore, the lack of substantial data characterizing metabolic/hormonal profile and the potential cardiovascular risk in newer PCOS phenotypes, as well as the absence of longitudinal data questioning a possible shift from one phenotype to another are underlined. These notions indicate that despite the initial presentation of a patient with PCOS, close follow-up and therapeutic interventions aiming to reduce long-term cardiovascular risk are warranted.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Anovulation / diagnosis
  • Cardiovascular Diseases / prevention & control
  • Diagnosis, Differential
  • Female
  • Glycation End Products, Advanced / blood
  • Hirsutism / diagnosis
  • Humans
  • Hyperandrogenism / diagnosis
  • Insulin Resistance
  • Nutrition Assessment
  • Phenotype
  • Polycystic Ovary Syndrome / complications
  • Polycystic Ovary Syndrome / diagnosis*
  • Risk Factors


  • Glycation End Products, Advanced