Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI)

What you should know about POI and Galactosemia

Most women with galactosemia will face primary ovarian insufficiency (POI) at some point in their lives. Some young women with galactosemia and their families find POI to be one of the most worrisome complications of galactosemia. This guide is designed to help you better understand what POI means and learn ways that you can cope with it.

If you were told you or your daughter have POI, you are not alone. Most girls or women with galactosemia experience POI at some point in their lives. Young women with galactosemia and their families sometimes have a hard time coping with POI. You likely have a lot of questions about POI and what it means to you. You will find answers to some of your questions in this guide. If you have other questions or need more information, ask your doctor or contact some of the resources listed in the “Other Resources” section of this guide.

Three key things to remember

1) Neither galactosemia nor POI define who you are.

2)Getting support from family, close friends, and other people with galactosemia can help you cope with POI.

3) If you have POI, it is important to take hormone replacement to prevent future health problems.

What is POI?

POI (sometimes called premature ovarian failure or POF) is a term used by doctors when a woman is under 40 and her ovaries are not working normally. This means that her ovaries are not making estrogen and other hormones that are important to her health. Galactosemia is one of the few known causes of POI. About 1 in 1,000 women without galactosemia have POI. Most women with POI do not know what caused it. Almost all women with galactosemia have POI or develop it at some point in their lives.

What health problems are caused by POI?

Estrogen helps women’s bones and heart stay strong and healthy. Since their bodies do not produce estrogen, women with POI may be more likely to get the bone disease osteoporosis or have problems with their hearts. This is why it is important to treat POI right away. POI can also cause infertility. This means it is very hard for women with POI to have children. However, some women with galactosemia and POI are able to have children at some point in their lives.

What are some symptoms of POI?

When a teenage girl or young women with galactosemia develops POI, she may feel one or more of these symptoms:

Not starting her period
Period stopping all of a sudden
Breasts not growing
Hot flashes
Feeling moody or irritable
Not being able to sleep
Vaginal dryness

How is POI different from menopause?

You may hear the term “premature menopause,” but this is not correct. The main difference is that menopause describes a permanent loss of ovarian activity but POI may not always be permanent. Some women with POI may produce estrogen or ovulate on and off.

How is POI monitored and when should girls and women with galactosemia be tested?

Your doctor will test your follicle stimulating hormone (FSH) levels to test for POI. Your doctor will work with you to determine when to start monitoring FSH levels. Many doctors monitor FSH levels in females with galactosemia at one year of age, at the time of puberty (or if there is a delay in puberty), and if menstrual periods become irregular or stop.

Why is a woman’s FSH level high and what does that have to do with her ovaries?

To understand FSH, you first need to know that the ovaries produce an important hormone called estrogen. FSH is released by the pituitary gland. The pituitary gland is in the brain and can sense if the ovaries are making the right amount of estrogen. When the pituitary gland senses that there is not enough estrogen being made, it will release FSH to the ovaries signaling them to make more estrogen.

When a woman’s ovaries are working normally, they will make estrogen. When estrogen is released, the pituitary gland will stop releasing so much FSH. When a woman has POI, her ovaries cannot produce estrogen. This means her pituitary gland keeps making FSH and her levels of FSH stay very high.

How is POI treated?

A girl or woman with POI is treated with medicine that replaces the estrogen and other hormones that her body is not making. This type of treatment is called hormone replacement therapy, or HRT. Your doctor may start you or your daughter on HRT if there are signs of POI or if puberty is delayed.

When a young woman with POI begins HRT, her breasts and hips may grow if they were not already fully grown. Her period may start for the first time or may start again. She may also have pre-menstrual syndrome (PMS) symptoms, such as mood swings. Simply put, her body will act just as if she was making hormones naturally.

There are many types of HRT, such as:

Pills that a woman will take every day
Skin patches that deliver hormones though a woman’s skin
Shots that a woman receives on a regular basis
Soft rings that a woman inserts in her vagina

Most HRT pills contain lactose as a filler. It is important that a woman with galactosemia consults with her doctor to find an HRT that works for her. If she feels any side effects from HRT, she should speak with her doctor right away! Every woman is different. A woman may need to try a couple forms of HRT to find one that works for her.

POI can also be hard to cope with emotionally. If you or your daughter are having a hard time coping with POI, think about speaking to a social worker, a psychologist, a psychiatrist, or another type of mental health expert. You may also want to think about joining a support group or talking to someone else with galactosemia that has been through this situation. If you are not sure where to turn, look at the “Other Resources” section of this guide.

Is HRT safe?

You may have heard that hormone therapy causes health problems in middle-aged women who take it after they have menopause. HRT does not cause these problems in young women with POI. The nature of hormone therapy in women with POI is not the same as in women after menopause. Young women with POI are replacing hormones that their bodies should be making on their own during pubertal development or during their early reproductive years. Women who take hormone therapy after menopause are extending the amount of time that their bodies take in estrogen.

One way to think of this is to compare HRT to insulin therapy for people with diabetes. When a woman has diabetes, she takes insulin to replace a hormone her body should be creating naturally. Like the person with diabetes, a woman with POI uses HRT to replace the hormones that her body should be creating on its own.

If you still have questions about the safety of HRT, make sure to talk to your doctor. He or she can talk about HRT in terms of your or your daughter’s unique situation.

Can a woman with POI ever have a child?

Most women with POI find it very hard to become pregnant. However, there are some women with POI (around 5% to 10%) who have been able to have children. There is no way to tell which women with POI will be able to get pregnant.

There are many types of families. There are some choices for women with galactosemia and POI who want to have a child. Some women with POI and galactosemia may choose to adopt a child. Other women may want to try in-vitro fertilization (IVF), gamete intrafallopian transfer (GIFT) or other alternative reproductive therapies. Some women with galactosemia and POI may decide that they will wait to try to have children or that they do not want to have children. Children can still play a key role in a woman’s life, even if she does not have children of her own. Every woman with POI and galactosemia is unique and how she (and in some cases her partner) chooses to deal with infertility will depend on her personal situation.

Most doctors say that women with POI should deal with the emotional and other health problems caused by POI before they think about having children. This is one important reason why the parents of an adolescent with galactosemia should not make decisions about their daughters’ body or reproduction. Instead, they should wait until their daughter is old enough to make her own decision. If you are ready to learn more, talk to your doctor about the options that you have. Or visit some of the resources listed in the “Other Resources” section of this guide.