Genetic Factors Contribute to Unexplained Infertility

Can Genetic Factors Contribute to Unexplained Infertility?


Infertility may be discouraging for individuals and couples who want children. Someone may be officially diagnosed with infertility after a year of attempting to get pregnant. Common causes of infertility, such as endometriosis, ovulation challenges, and tubal blockages, may explain some patients’ cases. Genetics may play a role in infertility cases, so here is more information about genetic factors and unexplained infertility:

Genetic factors like mutations and variations may cause unexplained infertility. Genetic mutations may affect the ovaries and the malfunction of DNA repair mechanisms for eggs and sperm, increasing the risk of infertility. FMR1 gene variations may also be connected to ovarian dysfunction. The fluorescence in situ hybridization techniques used to interphase cells and assess sperm genetic components in miscarriage cases have shown chromosomal aberrations. Physical issues like lacking the vas deferens duct or having small testicles may indicate another link between genetics and infertility.

Polycystic Ovary Syndrome

Polycystic Ovary Syndrome (PCOS) is a genetic condition that may cause infertility. The condition occurs when insulin resistance in women leads to a hormonal imbalance, causing the overproduction of male hormones. Women diagnosed with PCOS may have difficulty becoming pregnant due to irregular or missed periods. PCOS is a complex condition connected to environmental factors and several inherited genes that may cause infertility.

Premature Ovarian Failure

Defects in X chromosomes, including aneuploidies and rearrangements, may lead to premature ovarian failure (POF). Women with Turner syndrome may be less likely to experience menstruation, potentially indicating POF. Before reaching puberty, this group loses ovarian reserves since oocytes need two working X chromosomes. The Ubiquitin-specific Protease 9 gene is among the genes contributing to POF in women with Turner syndrome. This gene escapes the process of X inactivation and is situated in chromosome Xp11.4, which is needed for ovarian development.

Male Factor Infertility

Males with Klinefelter syndrome have additional X chromosomes, causing infertility. Y chromosome microdeletion may also cause male infertility. Males with low sperm counts possess deletions of sections of the Y chromosome called the DAZ gene. Males experiencing Y chromosome deletion indicated by deletions in the DAZ gene may lack recoverable sperm to facilitate successful conception. Cystic fibrosis (CF) gene mutations may cause the absence of a section of the vas deferens tube. These CF gene mutations inhibit ejaculation, which may be resolved using in vitro fertilization (IVF) treatments to collect sperm from the testicles.


Epigenetics is the study of modifications that affect the expression of genes. These modifications and transformations turn genes on and off when exposed to specific environments and habits such as physical exercise and diet. Men who report unexplained infertility may show contrasting DNA methylations. DNA methylation encompasses an epigenetic change unique to people experiencing unexplained infertility. In these cases, chemical groups added to particular areas in the DNA prevent proteins connected to the DNA from reading the gene.

Genetic Infertility Testing and Treatment

If genetic variations are present in potential parents, a fertility specialist may recommend a preimplantation genetic screening test. Preimplantation screening pinpoints genetic defects in IVF embryos that may cause miscarriage and implantation failure. This preventative approach may protect the offspring from inheriting genetic defects and causing unexplained infertility in the future. IVF using Intracytoplasmic Sperm Injection (ICSI) and other assisted reproductive treatments may be administered to enable conception. In ICSI procedures, the healthcare professional injects sperm into the eggs outside the womb for fertilization. Sperm donation may help a couple facing a genetic male fertility disorder that is untreatable.

Understanding the Role of Genetics in Unexplained Infertility

Genetic factors affecting ovaries, epigenetic factors that alter DNA sequences and lower sperm quality, and genetic variations linked to PCOS show that genes may impact fertility. Physical obstacles causing infertility, such as the absence of a section of the vas deferens, may also arise from genetic factors. Treatment for genetic infertility includes IVF with ICSI to aid conception. A fertility specialist may perform genetic testing and offer guidance on the appropriate infertility treatment for the patients. Information on the role genetics plays in infertility may assist couples in making informed decisions when considering available treatment options. Schedule an appointment with a fertility specialist today to learn more about how your genetics may affect your fertility.

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