Tests and challenges in the diagnosis of spontaneous early menopause

The diagnosis of spontaneous early menopause (EM) or Premature Ovarian Insufficiency (POI) involves several tests over a period of time. Women will often visit health practitioners with symptoms such as changes to their menstrual cycle, hot flushes, and night sweats (see Symptoms of early menopause and Seeking help and diagnosis for spontaneous early menopause (women’s experiences)).

The health practitioners we interviewed explained that after taking a menstrual and medical history, they conduct a range of blood tests to determine, for example, levels of Anti-Mullerian hormone, and Follicle-stimulating hormone, and a pelvic ultrasound. Women will also commonly undergo tests for the cause of spontaneous EM, although most cases are ‘idiopathic’, meaning there is no known cause. Genetic factors that can cause spontaneous EM or POI include Fragile X syndrome or Turner Syndrome. Other factors associated with spontaneous EM or POI include a family history of spontaneous EM, autoimmune conditions (such as thyroid disease) and galactosaemia.

Tests to diagnose and determine the cause of spontaneous EM are usually followed by screening to assess bone (bone mineral density test or DXA) and cardiovascular health for long-term monitoring (see Long-term health effects of early menopause).

Obstetrician-gynaecologist Dr Baber discussed the different tests conducted to diagnose spontaneous EM.

Dr Goeltom, a general practitioner, explained that spontaneous EM is often diagnosed once other possibilities have been excluded.

Delays in diagnosis

Several health practitioners noted that the diagnosis of spontaneous EM can often be delayed. This can be due to the extensive tests required, or sometimes because of women ignoring the absence of menstrual periods, especially if they have completed their family. Using the example of women who visit her practice for a pap smear, general practitioner Dr Goeltom commented, ‘sometimes [women have asked me] “If I don’t have a period for so many years, do I still need a pap smear?” And then, [I ask] “Why aren’t you [having] a period for so long?”… [They] don’t see it as a problem … especially [women] who have finished trying to have children.’

In addition, some health practitioners noted that women may be dismissed by their health practitioners when they discuss their symptoms, causing further delays in the diagnosis of spontaneous EM.

For endocrinologist Dr W, there is a need for more awareness of spontaneous EM and menopause in general among women and health practitioners.

In obstetrician-gynaecologist Dr Baber ’s experience, it is important to encourage women to investigate their symptoms.

The frustration that women can experience due to delays in the diagnosis of spontaneous EM was acknowledged by health practitioners. Dr D, an endocrinologist, commented that specialists can be ‘very difficult to get into, [this] is another factor of delay, and some women have waited months to get in…’

Investigating the cause of EM

Some health practitioners observed that the range of symptoms and co-existing health conditions that women can experience sometimes leads to other conditions being investigated before spontaneous EM. General practitioner Dr Ee added: ‘for me the biggest barriers were getting the diagnosis right because sometimes you may not even think about it and you start investigating other things.’

In addition, health practitioners explained that depending on women’s medical and family histories, there can be several tests conducted to determine the cause of spontaneous EM. Dr K, a fertility specialist, explained: ‘having a positive family history is a big predictor of premature ovarian insufficiency [and] having serious auto-immune conditions, and women who have Fragile X pre-mutations often have early menopause. So, there’s a wide variety of conditions that lead to premature ovarian insufficiency.’

Obstetrician-gynaecologist Dr C discussed diagnosing spontaneous EM and the co-existing health conditions that can impact on the diagnosis.

Dr D, an endocrinologist, reflected on the complexities of diagnosing spontaneous EM, testing for causes of EM and how the delays can impact women.

For women who are undergoing fertility treatment in particular, health practitioners emphasised the importance of repeated tests over a period of time because, as endocrinologist Dr D explained, ‘ovarian function [in women diagnosed with spontaneous EM] may recover … there is a chance of fertility there…’

Fertility specialist Dr K shared her experience of diagnosing spontaneous EM in the context of caring for women undergoing fertility treatment.

Further Information

Talking Points (Health Practitioners)

Talking Points (Women)

Other resources