Premature ovarian failure: a diagnosis that comes too soon or too late

Premature ovarian failure is diagnosed when there is a combination, before the age of 40, of amenorrhoea or oligomenorrhoea lasting for at least four months, and of elevated FSH levels, above 25 IU/l, confirmed by two tests taken one month apart. AMH levels are generally very low. The term ‘early menopause’ is common but imprecise: unlike menopause, ovarian function may resume intermittently.

The assessment to be carried out

Identifying the cause influences the management and the information to be provided to the family:

• Karyotype: X chromosome abnormalities, Turner’s syndrome or mosaicism.
• FMR1 gene premutation (Fragile X syndrome), present in 2–5 per cent of isolated cases and more frequently where there is a family history. It has implications for offspring and female relatives: this is a test that must not be omitted.
• Autoimmunity: anti-21-hydroxylase antibodies, thyroid function tests, screening for coeliac disease.
• Medical history: chemotherapy, pelvic radiotherapy, ovarian surgery — particularly for endometrioma. The article on endometriosis covers this point in detail.

In half to two-thirds of cases, no cause is identified.

The chances of a spontaneous pregnancy

They are not zero, and this is what is often overlooked. Around 5 to 10 per cent of affected women conceive spontaneously after diagnosis, sometimes years later, following a temporary resumption of ovarian function. This has two practical implications: contraception remains necessary if pregnancy is not desired, and the diagnosis should never be presented as a definitive impossibility.

On the other hand, no treatment has been shown to increase these chances. Neither high-dose stimulation, nor DHEA, nor so-called ovarian reactivation protocols. Experimental techniques — in vitro activation, intra-ovarian PRP — remain at the research stage and should not be marketed as solutions.

Hormone therapy, which is not optional

This is the most important and most overlooked point. Estrogen deficiency setting in at the age of 30 increases the risk of bone loss, heightened cardiovascular risk and symptoms that affect quality of life. Hormone replacement therapy is recommended until the normal age of the menopause, around 50, unless there are contraindications. This is not the same risk-benefit debate as for a woman who has reached the menopause at 52: in this case, we are replacing what should be there.

Egg donation

This is the approach offering the best chances, with pregnancy rates per transfer of 50–60 per cent, as the uterus normally responds to hormonal preparation. In France, the waiting time is around twenty-two months; in Greece, there is no waiting list and the legal age limit is 54. A comparison of waiting times and the Greek legal framework is detailed elsewhere.

An important caveat: in women with Turner syndrome, even in the mosaic form, pregnancy carries a serious cardiovascular risk. A specialist cardiac assessment and a multidisciplinary consultation are essential before any attempt is made, and certain conditions contraindicate pregnancy. This is non-negotiable.

If the diagnosis is recent

There are two things worth doing straight away. Firstly: if ovarian function persists intermittently and you are young, discuss freezing your eggs without delay, even if the expected success rate is low. The second: do not face this news alone. This is one of the most difficult fertility diagnoses to come to terms with, because it affects your sense of identity as much as your plans to have children, and patient support groups and psychological counselling really do help.

Frequently asked questions

Source: https://fertilitegrece.com/en/blog/premature-ovarian-insufficiency/ — Triada Baloukoudis, IVF patient coordination in Greece. General information, not medical or legal advice. Printed on

Triada Baloukoudis
Independent IVF patient coordinator in Thessaloniki, with 24 years of experience supporting patients travelling from abroad. More · Contact · Facebook