How to get a diagnosis, make a plan of management, and support teens who have been diagnosed with POI
Being diagnosed with Primary Ovarian Insufficiency (POI) as a teenager can be overwhelming for many reasons. First, most women diagnosed with POI only learn of the disease after having normal pubertal development and then, later, cease having regular periods. However, a teenager’s first symptom of POI may be never starting pubertal development, which leads to no growth spurt, no breast development, and never having their first period. This means they will lag behind their friends and may develop feelings of isolation and stigma. Some teens with POI will start pubertal development and get their first period and then development stalls, which means the periods never become regular or stop completely. Frequently, teens with POI experience a long time interval of estradiol deficiency before diagnosis is established because periods in normal teens can be infrequent for a while before becoming regular. This delay is a serious issue because women build much of their bone density for the rest of their life as a teen, and this is highly dependent on the action of estradiol. Any teen who goes for more than 90 days between periods deserves an evaluation with a physician to determine if they have POI.
Additionally, a teen diagnosis of POI comes with the difficult realization for the teen and her parents that her future fertility is in question. And it happens at a time when teenage girls are focused on school, work, and relationships, as well as all the other typical emotional and mental upheavals that come with maturation into adulthood. Social stress surrounding body image, delayed puberty, or even the added responsibility of taking regular hormone replacement can also exacerbate the mental health impact.
“A diagnosis of POI in teens can impact their physical, emotional, and social health during a time of critical development,” said Dr. Lawrence “Doc” Nelson, founder of My 28 Days and one of the world’s top authorities on POI research. “It’s crucial we recognize the signs early and help this special population through the unique challenges that come with managing life with POI. A family systems approach is best.”
Know the Signs
POI is rare in teenage girls. It may be related to a chromosomal abnormality, a premutation in the FMR1 gene or other genetic abnormalities, a rare autoimmune hormone deficiency, or treatment for malignancy.
POI in teens can generally be attributed to:
- Genetic factors
- Family history
- Autoimmune disorders
- Chemotherapy and radiation therapy
Understanding the timing of a normal menstruation cycle is essential to early diagnosis and treatment. By age 15, 95% of girls will have had menarche, their first menses. Any adolescent who has not had menarche by age 15 should seek a clinical evaluation for primary amenorrhea. Girls who begin their periods but go 90 days or more between cycles should seek evaluation and treatment for secondary amenorrhea. The absence of other signs of pubertal development (eg., breast and pubic hair) by age 13 should also prompt an investigation into delayed puberty.
The ovarian hormone estradiol plays an important role in the normal pubertal growth spurt in height and breast development. Some girls find out they have POI because their bodies are not developing as quickly as their peers.
Here is a summary of symptoms of POI in teenage girls, the range of which may vary:
- No first period
- No growth spurt
- No breast development
- Having menstrual periods more than 90 days apart (this may be the first clue to the presence of POI or other potentially serious conditions and merits investigation)
- Hot flashes/night sweats
- Trouble sleeping
- Vaginal dryness
- Mood changes
Being diagnosed with POI as a teen is challenging. There are clear advantages to finding out about this as early as possible. It gives a young girl time to process the diagnosis, get support from her family, seek guidance, and develop a plan so that — should the time come to have a family — she’s educated, confident, and prepared.
Getting the POI Diagnosis and Making a Plan
Because many clinicians lack awareness of POI, it may take visits to multiple doctors over months or even years to get a proper diagnosis. Many people, including health professionals, may attribute having irregular or periods to other things such as stress, excessive exercise, weight changes, or other gynecological conditions such as Polycystic Ovary Syndrome (PCOS). Current guidelines recommend that further investigations be initiated if periods have stopped or become infrequent after as little as three to four months and to make even more careful observations with teens entering the age of puberty, especially if there’s a family history of POI.
According to the published recommendations, every girl with suspected POI deserves to receive a detailed personal and family medical history. In addition to hormonal testing, the evaluation may include a sonographic assessment of the uterus and ovaries, a bone age, and bone mineral density.
It’s important to note that this diagnosis doesn’t just affect the teenage patient but also her parents and other family members — particularly in regard to the uncertainty surrounding the girl’s fertility. Some teenagers may not have strong feelings about this aspect at the onset, but that may change with age and circumstances. This grieving process may affect the family. Some patients and caregivers often find support in therapy or POI groups, which can help them process the diagnosis, especially since POI can be associated with symptoms of anxiety and depression. (To request to join the private Conover Foundation/My 28 Days Facebook community, please click here.)
Typical steps in a clinical teenage diagnosis include:
- Examination of medical history
- Consideration and ruling out of possible pregnancy
- Physical examination
- Hormone level testing in the blood
- Imaging studies such as ultrasound or MRI (as needed)
- Genetic testing (as needed)
- Measurement of bone mineral density and bone age (as needed)
Management of POI in Teenage Girls
Managing POI at any age includes both lifestyle recommendations and hormonal supplementation. Lifestyle advice should emphasize a balanced diet to help maintain a healthy weight along with the daily recommended amounts of calcium and Vitamin D. It should also include regular exercise that incorporates weight-bearing activity for bone health. Smoking should be avoided. Additionally, due to the small but real possibility of spontaneous and unpredictable ovulation, use of contraceptives is recommended if the teen is sexually active and does not desire pregnancy.
The management protocol typically encompasses an integrated approach that includes:
- Physiologic hormone replacement therapy (P-HRT)
- Parental education (a family systems approach is recommended)
- Age-appropriate patient education
- Psychological support and counseling (as needed)
- Lifestyle modifications (as needed)
Complications of POI in Teenage Girls
A POI diagnosis in teens is often coupled with additional mental and emotional stressors. “The younger the individual at diagnosis, the more profound the confusion as sexuality, fertility, and menopause follow each other in rapid succession,” Dr. Gerry Conway, a medical specialist in the field and a founder of The Daisy Network has said. “Frequent, initial follow-up and access to a clinical psychologist or counselor is vitally important in easing the passage through a particularly devastating diagnosis when it occurs in the second and third decades of life.” He added that young women can also be struggling with concepts of infertility, a sense of betrayal by one’s own body and an increased awareness of aging and even mortality, which can be hard to psychologically accept.
In addition to these concerns, clinicians and family members should be aware of other longer-term complications of POI for any woman with the condition. These include:
- Cardiovascular disease
- Depression, anxiety and isolation
- Shorter life expectancy
As we take steps forward to help teenagers and their families — all of whom are in some ways affected by a POI diagnosis — three things remain crucial.
1. Importance of early diagnosis and management of POI in teenage girls — At My 28 Days, we advocate that if “your period isn’t normal, it isn’t normal.” By understanding menstrual health, the potential implications of genetics or family history on other relatives, and getting the proper care and screenings, you can obtain necessary treatment early, which can lead to a better sense of control and better management.
2. Need for education and advocacy to raise awareness — My 28 Days is working to create the necessary momentum for better management of POI. The goal is to empower all teen girls and women with the needed knowledge to make evidence-based decisions about their health and how to be well. Advocacy involves educating the teen with the diagnosis, the mother and father, the family and clinicians. Management involves providing patients and their family with the resources they need, including a list of important questions patients can ask their doctors.
3. Need for a natural history study and other research on POI — Ideally, a natural history study would follow girls and women with POI from the time of diagnosis for the rest of their life. We have made it our mission at My 28 Days to raise awareness about this disease and to build a community of like-minded people who value research. The hope is to generate more knowledge to improve care and maintain health. We invite you to join this conversation on Instagram or Facebook, by visiting our website, or by contacting us directly here.
Dr. Lawrence M. Nelson, MD, MBA
Director, My 28 Days® Initiative
President, Mary Elizabeth Conover Foundation, Inc.