Struggles with fertility in individuals with cystic fibrosis, affecting both males and females, and potential approaches for fertility treatment
Cystic fibrosis (CF) is a genetic disorder that affects many aspects of a person's health, including reproduction. With proper management and monitoring, many people with CF can carry a fetus without significantly affecting their long-term health. However, infertility is a common issue for individuals with CF, requiring close collaboration with healthcare professionals.
Male Fertility Issues in Cystic Fibrosis
Male fertility problems in CF primarily stem from congenital bilateral absence of the vas deferens (CBAVD), a condition where the tubes that normally carry sperm out of the testes are missing or blocked. This results in azoospermia (no sperm in semen) despite normally functioning testes that produce sperm.
However, it's important to note that men with CF are infertile but not sterile, as sperm can be retrieved directly from the testes for reproductive use. Assisted reproductive techniques (ART), such as testicular sperm extraction (TESE) and in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), can help achieve fertilization.
Female Fertility Issues in Cystic Fibrosis
In females with CF, fertility problems occur in about 20% of cases, mainly due to thickened cervical mucus, which impairs sperm passage, and in severe cases, malnutrition, which can disrupt ovulation and menstruation. However, most women with CF remain generally fertile.
Fertility Treatment Options for Individuals with Cystic Fibrosis
For males with CF experiencing fertility difficulties, ART is often the solution. This includes TESE to retrieve sperm directly from the testes, followed by IVF or ICSI to achieve fertilization. Genetic testing for CFTR mutations is recommended, especially to assess risk if the female partner is also a carrier, with the option of genetic counseling or embryo testing (preimplantation genetic testing, PGT).
For females with CF experiencing fertility challenges due to cervical mucus or ovulation issues, treatments may include addressing nutritional status to restore ovulatory cycles, fertility medications to stimulate ovulation, and ART if natural conception remains problematic.
Considerations for Pregnancy and Family Planning
Becoming pregnant could pose health risks for individuals with CF who have lung function issues or heart disease. Therefore, it's crucial for individuals with CF to consult a doctor if considering starting a family, experiencing fertility concerns, or have irregular or absent periods. Engaging in open communication with healthcare professionals can provide guidance, risk assessment, and necessary health optimizations before attempting conception.
If carrying a pregnancy is not possible or recommended, a person could consider using a gestational carrier or surrogate.
In summary, male CF fertility issues commonly stem from absent vas deferens leading to obstructive azoospermia, while female fertility issues are linked to thick cervical mucus and nutritional/ovulation problems. Both can often achieve biological parenthood through tailored ART combined with genetic counseling.
[1] American Lung Association. (2021). Cystic Fibrosis and Pregnancy. [online] Available at: https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/living-with-cf/cystic-fibrosis-and-pregnancy
[2] Cystic Fibrosis Trust. (2021). Fertility and Cystic Fibrosis. [online] Available at: https://www.cysticfibrosis.org.uk/living-with-cystic-fibrosis/fertility/
[3] Mayo Clinic. (2021). Cystic fibrosis and pregnancy. [online] Available at: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/in-depth/pregnancy/art-20045729
- Cystic fibrosis (CF) is a genetic disease that impacts multiple aspects of an individual's health, extending to reproduction.
- With diligent management and regular check-ups, many people with CF can conceive safely without compromising their long-term health.
- One of the principal fertility issues in CF for males is congenital bilateral absence of the vas deferens (CBAVD), which causes blocked or absent tubes that transport sperm from the testes.
- As a result of CBAVD, males with CF may suffer from azoospermia, meaning they have no sperm in their semen.
- Despite this, men with CF are not sterile since sperm can be retrieved from the testes for reproduction.
- Assisted reproductive techniques (ART), such as testicular sperm extraction (TESE), in vitro fertilization (IVF), or intracytoplasmic sperm injection (ICSI), assist in fertilization for males with CF.
- Female fertility issues in CF are less common but can occur due to thickened cervical mucus that hinders sperm passage and, in severe cases, malnutrition that disrupts ovulation or menstruation.
- The majority of women with CF, however, remain fertile.
- For men with CF encountering fertility challenges, ART often offers a solution by retrieving sperm from the testes and using IVF or ICSI.
- Genetic testing for CFTR mutations is recommended for these men, specifically when the female partner is also a carrier, with options for genetic counseling or embryo testing available.
- Females with CF facing fertility issues due to cervical mucus or ovulation concerns can benefit from addressing their nutritional status, medications to stimulate ovulation, and ART if natural conception becomes problematic.
- Pregnancy poses health risks for people with lung function problems or heart disease, making it essential for those with CF to consult their doctor when considering starting a family, dealing with fertility concerns, or experiencing irregular or absent periods.
- Discussions with healthcare professionals can provide valuable guidance, risk assessment, and health optimizations before attempting conception.
- For those unable to carry a pregnancy or advised against it, using a gestational carrier or surrogate could be an option.
- Addressing nutritional status is crucial for females with CF to restore ovulatory cycles when facing fertility problems.
- With the right ART and genetic counseling, individuals with CF can become biological parents.
- Individuals with CF should educate themselves on reliable resources such as the American Lung Association, Cystic Fibrosis Trust, and Mayo Clinic.
- Women's health and men's health are integral aspects of overall health and wellness, including fitness and exercise, sexual health, and family health.
- Autoimmune disorders like rheumatoid arthritis, skin conditions such as psoriasis, mental health issues, and cardiovascular health should also be closely monitored.
- Screening for medical conditions and chronic diseases, such as type-2 diabetes and chronic kidney disease, is vital for maintaining good health.
- Respiratory conditions, digestive health, eye health, hearing, and hearing loss should also be considered.
- Home-and-garden activities, including interior design and gardening, can promote a healthy lifestyle, creating a sustainable living environment.
- Food-and-drink choices, such as healthy cooking, baking, beverages, and global cuisines, impact overall health, especially with regards to diabetes management and weight loss.
- Proper budgeting, saving, debt management, and wealth management are crucial for financial security, which is an important part of personal and family well-being.
- Lifestyle factors play a pivotal role in maintaining good health, including regular exercise, healthy eating, mental health support, and caring for pets.
- Relationships with family, partners, friends, and pets contribute to mental health and overall quality of life.
- Lifestyle choices can considerably impact health, from maintaining a healthy diet to practicing love and dating safely, even with conditions like CF.
- By making informed decisions about health, diet, and finance, individuals with CF can optimize their well-being and enjoy an enriched life with their loved ones.
