Genetic Disease Variants as an Unexplained Cause of Female Infertility: A review by NEJM
Female infertility is a major concern for couples who wish to have a family but face difficulties conceiving. While some cases of infertility are attributed to lifestyle factors or specific medical conditions, in many cases, the cause of infertility remains unknown. One possible unexplained cause of infertility is genetic disease variants, which can impact a woman’s ability to conceive and carry a pregnancy to term.
What Are Genetic Disease Variants?
Genetic disease variants are changes in the DNA sequence that can cause a gene to malfunction or not function at all. These changes can be inherited from one or both parents or occur spontaneously during a person’s lifetime. There are thousands of known genetic disease variants, many of which are associated with specific medical conditions or diseases, ranging from cancer to neurodevelopmental disorders.
How Can Genetic Disease Variants Impact Female Fertility?
Several genetic disease variants have been linked to female infertility, either through impairing ovulation or disrupting the processes that enable pregnancy to occur. For example, mutations in genes involved in hormonal regulation such as the follicle-stimulating hormone receptor (FSHR) or luteinizing hormone receptor (LHR) can disrupt normal ovulation and lead to irregular menstrual cycles. Other genetic variants can impact the development of the endometrium, the lining of the uterus, making it difficult for a fertilized egg to implant and grow.
Diagnosing Genetic Disease Variants and Their Impact on Female Fertility
Despite the potential impact of genetic disease variants on female fertility, identifying these variants can be challenging. Standard medical tests such as hormone levels and a physical exam may not reveal any specific findings. However, advancements in genetic testing have made it possible to identify certain genetic variants that impact female fertility.
One such test is known as preimplantation genetic testing (PGT), which involves testing embryos prior to implantation in the uterus. This can help identify any genetic abnormalities or disease variants that may impact the embryo’s ability to develop normally.
Conclusion
Genetic disease variants are a potential, though often overlooked, cause of female infertility. While the impact of these variants varies from person to person, understanding their potential impact can help guide medical interventions and improve outcomes for couples struggling with infertility.
#Infertility #FemaleInfertility #GeneticDiseaseVariants #DNASequencing #PreimplantationGeneticTesting
Summary: Genetic disease variants are changes in the DNA sequence that can impact a person in several ways. For women, certain genetic variants can lead to infertility by disrupting ovulation and the processes required for pregnancy. Diagnosing these genetic variants can be difficult, but advancements in genetic testing have made it possible to identify them. Preimplantation genetic testing is one such test, which can help identify any genetic abnormalities in embryos prior to implantation. Understanding the potential impact of genetic disease variants on fertility can help guide medical interventions and improve outcomes for couples struggling with infertility. #HEALTH