Uterine factor infertility (UFI) leaves women unable to conceive causing them intense emotional distress.

Overview

Uterine factor infertility (UFI) is described as a condition caused either by a complete lack of a uterus or a non-functioning uterus due to a variety of factors. It could potentially impact 3% of people assigned female at birth (AFAB) with a uterus who have not yet entered menopause.¹ 

In this article, we explore uterine factor infertility, a condition that imposes a heavy emotional burden on AFABs. In the following paragraphs, we aim to provide insights and support, addressing the complexities of UFI. We'll discuss its causes, emotional impact, and potential solutions, including uterine transplantation. 

What are the types of uterine factor infertility?

There are two types of uterine factor infertility: congenital (in-born) and acquired.

If you have a congenital UFI, it means that you were born with a non-functional uterus or even without a uterus. This is caused by abnormal development before birth, meaning that certain structures, the Müllerian ducts (an embryonic structure) for example, did not develop correctly during the early stages of pregnancy.

If you have an acquired UFI, it means that the condition was not present at birth but was developed at some point in your life.

Whether congenital or acquired, AFABs with UFI are unable to bear children.

Other uterine conditions affecting your fertility could include:

• Postpartum Hysterectomy – removal of the uterus after giving birth
• Removal of the uterus due to benign conditions such as a uterus with multiple fibroids, severe endometriosis, or adenomyosis, a condition when the endometrium is found deep in the myometrium
• Removal of the uterus as a result of cancers (ovarian, endometrial or cervical)¹ 

However, it is possible to have uterine factor infertility and still have a uterus. For example, being exposed to radiation during cancer treatment, polyps, scar tissue, uterine fibroids, or injuries can prevent pregnancy from happening but do not require removal of the uterus. 

Infertility caused by Asherman’s syndrome can also be a cause of uterine factor infertility. Asherman’s syndrome is a rare condition where scar tissue forms within the uterine cavity, often as a result of surgery in the uterus. Infections, radiation and procedures like dilation and curettage, can all be causes of this acquired condition.^1,2 

The congenital absence of uterus 

What is mayer-rokitansky-küster-hauser (MRKH) syndrome?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects 1 in every 4,500 AFAB individuals. People with this condition have their vagina and uterus underdeveloped, meaning that their vagina is shortened and the uterus is absent or smaller. They have an AFAB chromosome pattern, functioning ovaries, and a urethra. The outer reproductive organs and other traits associated with sexual maturity such as pubic hair and breast develop normally.

There are two types of MRKH Syndrome:

• MRKH Syndrome type 1 – in this type of syndrome, the uterus and the upper vagina develop abnormally while other organs are not affected.
• MRKH Syndrome type 2 – AFABs may exhibit abnormalities in organs like the kidneys or fallopian tubes, as well as in the spine. 

MRKH is often discovered during adolescence by the absence of the menstrual cycle. Other times, intercourse is painful due to the vagina being shorter and narrow. Due to a smaller or absent uterus, individuals with MRKH cannot become pregnant and for this reason have uterine factor infertility.

How is uterine factor infertility diagnosed?

Healthcare professionals will perform a pelvic exam and ultrasound, or MRI, if needed, to check your uterus size or shape or if it’s missing. Independently of the cause, the diagnosis of uterine factor infertility is often sudden, coming after investigating why a person never experienced a menstrual period or when the menstrual flow is unusually light, or following an urgent and unplanned hysterectomy. For those having severe Asherman’s syndrome, the diagnosis arrives years after experiencing reproductive issues, necessitating tests that involve cameras to look at the inside of the uterus.²

Psychological aspects of uterine factor infertility

After receiving the diagnosis of either being born without a uterus or having one with significant malformations (absolute UFI), AFABs must understand that their infertility is permanent and irreversible, which could cause them long-term emotional stress. 

In such circumstances, a team of experts, including psychologists, nurses and obstetricians, needs to work together to help these AFABs deal with this emotional turmoil. In conditions such as MRKH especially, when the diagnosis is made during adolescence, therapy and patient support groups are particularly beneficial.²

However, AFABs with absolute UFI who still wanted to become parents – until recently – had no option but to change their plans to have babies and either reconcile with the idea of not having children or become parents through adoption or surrogacy. These individuals may soon be able to access an alternative pathway for becoming parents that would allow them to conceive, gestate and give birth to their own children.²

Can uterine factor infertility be treated? 

A patient AFAB with uterine factor infertility is unable to become pregnant. Their uterus is either absent at birth or removed through a hysterectomy or is non-functioning. Until now, the only option these individuals had was adoption or surrogacy.

Uterus transplantation is a new treatment approach for people suffering from UFI. The procedure started as an experiment in animals and is now being tested in humans, leading to successful outcomes. In December 2017, a woman in Brazil was the first in the world to give birth to a healthy baby girl after receiving a transplanted uterus. In 2023, more than 100 uterus transplants have been performed worldwide, leading to the birth of approximately 50 babies.

Donor options for uterus transplantation

Just like with many other organ transplants, the uterus is taken from a donor and placed into the recipient’s body. There are two types of donors -living and deceased. A living donor is a person who chooses to give their uterus for transplantation to an AFAB recipient. The donor can be known (directed donor), often a family member, a mother or sister, or anonymous (non-directed). 

Anonymous donors are AFABs between 30 and 50 years of age, who are generally in good health, have stopped having children and have decided that they want to donate their uterus. A deceased donor is an individual who has expressed a wish to donate their uterus after death. In this form of organ donation, the donor has no relationship with the recipient.

Preparing for uterus transplantation

Before being added to the waiting list to receive a uterus transplant, AFABs undergo in-vitro fertilization (IVF) treatment to create embryos. The embryos are then frozen and stored until the AFAB receives the transplant.

Uterus transplant - a temporary solution

Unlike a typical organ transplant, a uterus transplant is not intended to be a lifelong solution. The transplanted uterus is removed after the patient AFAB has one or two babies, or in case there are any transplant complications or worries about the possibility of rejection. This approach ensures that AFABs no longer require immunosuppressant medications, thereby sparing them from the long-term risks of taking immunocompromising drugs.  

Even though uterine transplantation is still considered a new kind of treatment, there is hope for this infertility solution to be available as more clinical trials are carried out in the upcoming years. Given the significant interest in uterine transplantation, the number of this procedure is expected to rise.³

Coping with uterine factor infertility

Getting a diagnosis of uterine factor infertility can be tough. Remember, you are not alone and many sources for reading are available, helping you make decisions and discover your alternatives. Though some AFABs may consider uterus transplantation as the only remedy for their fertility problems, there could be other treatment options available for them.

Conclusion

Uterine factor infertility (UFI) is a condition that affects some individuals assigned female at birth (AFAB), either due to the absence of a uterus or a non-functioning one. This condition can impact about 3% of AFABs with a uterus who haven't reached menopause. There are two main types of UFI: congenital and acquired.

Dealing with UFI can be emotionally burdensome, and individuals may require support from a team of experts, including psychologists, nurses, and obstetricians. AFABs with UFI have traditionally faced limited options for parenthood, such as adoption or surrogacy.

However, uterine transplantation, a relatively new procedure, offers hope for AFABs with UFI. It involves transplanting a uterus from either a living or deceased donor. After successful transplantation, AFABs can attempt to conceive through in-vitro fertilization (IVF). The transplanted uterus is usually removed after one or two successful pregnancies to avoid long-term medication use and potential complications.

Although uterine transplantation shows promise, it's still considered experimental, and more data from clinical trials is needed. Nonetheless, it presents a potentially transformative option for AFABs with UFI.