Could this be Premature Ovarian Insufficiency?

5 minute read

These practice points are designed to aid in the timely diagnosis of POI in primary care.

Premature Ovarian Insufficiency (POI) can be a distressing diagnosis with long-term impacts on health and fertility.

POI can occur spontaneously in up to 4% of women, with 90% of the cases having no explained cause (primary ovarian insufficiency). POI can also be iatrogenic (secondary) due to bilateral oophorectomy, chemotherapy and radiotherapy.

This overview of relevant practice points is designed to aid timely diagnosis of POI in primary care.

POI is defined as the loss of ovarian function before the age of 40, with the following consequences:

  • Gradual or sudden onset of symptoms of oestrogen deficiency, which may occur even while the woman is still having menstrual periods. These include hot flushes, mood changes, sleep disturbance, joint aches, dry vagina or poor lubrication during sexual arousal
  • Infertility
  • Psychological distress with increased rates of depression and anxiety
  • Long-term consequences including osteoporosis and cardiovascular disease

The following factors can be associated with idiopathic POI:

  • Family history
  • X-linked chromosomal abnormalities, such as Turner’s syndrome and Fragile X syndrome, and other X-linked and autosomal mutations
  • Autoimmune diseases (Hashimoto’s thyroiditis, DN+M Type 1, adrenal insufficiency, Sjogren’s syndrome, RA, MS, inflammatory bowel disease)
  • Infections (mumps, HIV, CMV)
  • Metabolic conditions (galactosaemia)
  • Exposure to toxins, such as polycyclic aromatic hydrocarbons (cigarette smoke) and other environmental pollutants

There is no evidence that POI is associated with the use of oral contraceptives, fertility drugs or artificial hormones in the environment.

Idiopathic POI is usually a retrospective diagnosis, with the diagnostic criteria including >4 months of amenorrhea, with a follicle stimulating hormone (FSH) level in the menopausal range (>25IU) on two occasions at least 4-6 weeks apart.

For women with menstrual periods, these tests should be performed on day 2-3 of the cycle. For women with amenorrhea using hormonal methods of contraception, such as a contraceptive pill, contraceptive implant or intrauterine hormonal method, amenorrhea can be difficult to interpret because it may be associated with the method itself. For women using combined hormonal contraception, FSH measurement is not useful due to the negative feedback effect of oestrogen on FSH.

The presence of the symptoms of menopause cannot be used as a reliable predictor of POI, nor is there a biological marker that defines the precise moment of cessation of fertility in women with POI. It has been postulated that AMH could be used to predict the timing of spontaneous POI but the utility for AMH testing in diagnosing POI has not been confirmed.

For sexually active women diagnosed with POI, there remains a very small possibility of spontaneous ovarian activity, therefore potential risks of an unintended pregnancy should be discussed as part of the consultation. For women who would like to have children, assisted fertility options should also be discussed as part of the consultation.

If the diagnosis of spontaneous POI appears likely, the following testing should be offered:

  • The assessment of the karyotype and the FMR1 gene premutation
  • Autoantibody testing for adrenal cortex or 21-hydroxylase antibodies in peripheral blood; if positive, adrenal function tests should then be performed
  • Thyroid peroxidase autoantibodies and thyroid function test
  • A baseline HbA1C, a lipid profile and DEXA scan

Ovarian antibody testing is not recommended due to poor correlation with clinical symptoms and hormone biomarkers and the high rate of false-positive results.

Women with POI will require medical treatment and ongoing follow-up and may also need psychological counselling around the time of the diagnosis and beyond. The AMS Fact Sheet Menopause before 40 and spontaneous premature ovarian insufficiency provides accessible consumer information about POI, including risk factors, symptoms and management options. The AMS Information Sheet Spontaneous premature ovarian insufficiency provides the clinical framework for health professionals dealing with a suspected case of POI.

The International Menopause Society White Paper on premature ovarian insufficiency (POI) details the latest understanding of aetiology, relevant investigations and practical management strategies of this complex condition.

Early Menopause: Experiences and Perspectives of Women and Health Practitioners is another highly recommended digital resource for GPs and their patients navigating the challenges of the diagnosis of POI.

In women with cancer or another illness which has necessitated the use of chemotherapy or radiotherapy, a diagnosis of resulting POI can further exacerbate the stress of coming to terms with a life-threatening illness. The AMS Information Sheet for health professionals Early menopause due to chemotherapy and radiotherapy provides detailed information on the impact of chemotherapy and radiotherapy on the ovaries.

The following online platforms offer useful information and supportive resources for women affected by POI:

Dr Elina Safro works as a clinician and medical educator at Family Planning NSW Newington, Penrith and Dubbo clinics. She is Visiting Medical Officer at Royal Prince Alfred Hospital Sexual Assault service and has also worked as a researcher at the National Centre for HIV Epidemiology and Clinical Research (now the Kirby Institute at the University of NSW). She is currently serving as chair of the Education subcommittee of Australasian Menopause Society. 

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