Primary Ovarian Insufficiency goes undiagnosed in teenagers. A leading researcher calls for more awareness

Vienna sat quietly holding back tears as her mother Belinda spoke at a parliamentary inquiry into menopause and perimenopause.

She rubbed her mother’s back in a show of support as Belinda shared the toll a rare condition had taken on her daughter.

At 19 years old, Vienna was diagnosed with Primary Ovarian insufficiency (POI) — a condition that affects 1 per cent of women between 15-44.

POI causes the ovaries to stop working normally before the age of 40, producing similar symptoms to early menopause. 

While POI, also known as Premature Ovarian Insufficiency, is not menopause, it’s often confused with it because of the similarity in symptoms, such as; a lack of menstruation, hot flashes, night sweats, and infertility.

After many years of not knowing what was wrong, Vienna received a late diagnosis of POI a year ago which has impacted her plans to conceive a child naturally, causing her and her mother distress and uncertainty. 

Early diagnosis is crucial for women who want to become pregnant through in vitro fertilisation (IVF).

With POI, the ovaries eventually stop working, making it difficult to get pregnant naturally, most women with the condition would need the assistance of donor eggs.

It’s estimated only 5 per cent of people with the condition can conceive using their own eggs, and carry a pregnancy, according to the Australian Journal of General Practice.

‘It was too late’

Vienna’s late diagnosis ruled out the chance of conceiving a child using her biological eggs and now she would need to use donor eggs.

Belinda said she was “very angry” that Vienna’s GP had missed her POI diagnosis for so long. 

“We definitely missed the window for puberty development. Hormone treatment needs to start before the age of 17 for that and the delay had a big impact,” Belinda said about her daughter’s diagnosis.

Belinda said it would be hard to know if Vienna would have had any success had her doctor recognised what was happening earlier “but we would have appreciated the opportunity to try”.

“There was hormone testing on her file that showed what was happening, but he told us it was normal,” Belinda said.

In her submission to the Senate inquiry,  she said 13 of Vienna’s symptoms matched 15 for early menopause, but Veinna’s GP didn’t test her for it.

Instead, he told her to “get back into surfing” and “breathing exercises”.

Despite not having a regular menstrual cycle, and dozens of consultations with her GP, Vienna’s POI had been mistaken for chronic fatigue syndrome, anxiety and depression.

Many times, Vienna went to her doctor suffering from severe symptoms, including, panic attacks and hot flashes.

She stopped going to school because she couldn’t get out of bed. 

After seeing numerous specialists over many years she finally received her late POI diagnosis, which felt like a “relief”.

“I was told for so long, oh yeah, no, it’s fine. It’s fine,” she said.

“Once I started thinking about all those times [that I was sick] I was pretty mad [at the GP].”

Calls for more awareness to avoid risk factors 

Receiving a late diagnosis of POI isn’t uncommon for women.

Physician and scientist, Lawrence M Nelson has been researching POI for 30 years, leading a team at the National Institutes of Health (NIH) in the US.

Dr Nelson said healthcare professionals needed more general awareness about POI and its effects.

He said POI is a deficiency of the essential ovarian hormone 17 beta-estradiol, a hormone that induced puberty in girls.

“In most cases, no cause for POI can be identified even after a thorough evaluation,” Dr Nelson said.

However the scientific understanding of the 17 beta-estradiol hormone “surpasses clinical expertise in managing patients with the deficiency”.

Dr Nelson said those with the deficiency were at a higher risk of cardiovascular disease, osteoporosis, and a shortened life expectancy. 

In Vienna’s case, her late diagnosis meant she didn’t have early access to hormone replacement therapy (HRT) which at the age of puberty can be crucial to regulate hormone levels.

HRT gives the body the estrogen and other hormones that their ovaries are not making, helping to make symptoms — like hot flashes and night sweats — more manageable. 

Hope in dark places

The prospect of falling pregnant for women with POI might be daunting, but it’s not impossible.

Georgia from NSW was diagnosed with POI at 15 years old.

She was told fertility would be the biggest issue for her which she said was “beyond devastating” to hear.

“I always wanted to be a mum,” she said.

Fortunately, Georgia used her wife, Grace’s donor egg, and she’s now pregnant with their first child.

“I have a wonderful partner. I’ve fallen pregnant, which has been a dream come true, although the journey to get here has been very, very long.”

At first, she said she had to make peace with the fact that she couldn’t use her own biological egg to conceive.

But after working through that “grief” with a therapist she’s looking forward to becoming a mother.

“It’s only really the last couple of weeks that I’ve let myself believe we might actually end up with a baby.”

Georgia said online support networks had “absolutely saved me”.

“I want to share the positive part [of this journey] because it would have been awesome to know that it’s possible when I was diagnosed.”

The Senate Community Affairs References Committee is due to hand down its report on issues related to menopause and perimenopause on September 17.