Polycystic Ovarian Syndrome

Polycystic Ovarian Syndrome

 

Polycystic ovary syndrome (PCOS) is a common endocrinopathy caused by androgen excess and is the leading caused of anovulatory infertility.

Epidemiology

  • Prevalence – 6-8% of adult females

Inheritance

  • Family incidence nears 40%
  • Appears to be autosomal dominant inheritance

Pathophysiology

  • Etiology is unknown
  • Syndrome with excess androgen production (hyperandrogenism)

Clinical Presentation

  • Irregular menses or amenorrhea
  • Infertility
  • Hirsutism, acne, male pattern baldness
  • High rate of diabetes mellitus type 2 and metabolic syndrome

Diagnosis

  • Rotterdam criteria (2003) – diagnosis requires two of three
    1. Oligo/anovulation
    2. Clinical and/or biochemical signs of hyperandrogenism
    3. Polycystic ovaries on ultrasound and exclusion of other etiologies
  • NIH criteria (1990) – diagnosis requires both
    1. Clinical anovulation
    2. Clinical and/or biochemical signs of hyperandrogenism
  • Indications for testing – history and physical exam suspicious for PCOS
  • Laboratory testing
    • Free testosterone level (gold standard by mass spectrometry) along with dehydroepiandrosterone, sulfate (DHEA-S) and androstanediol glucuronide – all elevated
    • LH/FSH levels – do not contribute to diagnosis
    • Rule out the following (diagnosis involves exclusion of other etiologies)
      • Late onset congenital adrenal hyperplasia – 17-hydroxyprogesterone, morning 
        • If result is <2 ng/ml, then referral is not necessary to rule out congenital adrenal hyperplasia
      • Prolactinoma – prolactin  
      • Cushing syndrome  – 24-hour urine cortisol or salivary cortisol  
      • Hypothyroidism – thyroid stimulating hormone  

Differential Diagnosis

  • Cushing syndrome
  • Late onset congenital adrenal hyperplasia
  • Obesity
  • Ovarian failure
  • Androgen secretive tumors
  • Metabolic syndrome
  • Prolactinoma

Disease Monitoring

  • Long-term health consequences associated with PCOS
    • Metabolic syndrome
    • Cardiovascular disease
    • Impaired glucose tolerance and diabetes
  • Laboratory testing (after diagnosis)
    • Evaluate for metabolic complications of PCOS
      • Fasting 2-hour glucose tolerance test
      • Fasting lipid profile
      • Liver function testing (alanine aminotransferase, aspartate aminotransferase)

See Also