Definition and diagnosis of premature ovarian insufficiency and early menopause

Premature ovarian insufficiency (POI) is defined as the loss of ovarian function in people younger than 40 years; this term is preferred over ‘premature ovarian failure’ or ‘premature menopause’. POI may be:

  • spontaneous (affecting 1 to 2% of females); usually idiopathic, but may be caused by genetic disorders (eg abnormalities in the FMR1 gene1), X chromosome abnormalities (eg Turner syndrome), enzyme deficiencies and autoimmune causes
  • secondary to bilateral oophorectomy (eg in individuals with endometriosis or undergoing preventive surgery due to high risk of ovarian or endometrial cancer), chemotherapy or radiotherapy.

POI should be considered in anyone presenting with primary amenorrhoea, or secondary amenorrhoea occurring before age 40 years. POI is diagnosed if all the following criteria are met:

  • serum follicle stimulating hormone (FSH) concentration is elevated into the menopausal range on two occasions at least 4 to 6 weeks apart
  • hormonal contraception is not being used
  • amenorrhoea has been present for at least 4 months.

Specialist referral is recommended to determine the cause of POI and for further management. See also the Healthtalk Australia website for a range of resources, including algorithms for diagnosis, an international guideline on the diagnosis and management of early menopause and POI, and patient information.

Menopause occurring between ages 40 to 45 years is considered early menopause. Early menopause affects over 10% of females, of whom half report that it is spontaneous. Suspected early menopause should be investigated and managed as for premature ovarian insufficiency.

1 For more information on the FMR1 gene in fragile X, see the Royal Australian College of General Practitioners (RACGP) guideline Genomics in General Practice.Return