Hormone testing

Blood tests to measure hormone levels can help identify hormonal imbalances that may affect fertility.
To ensure these tests are as accurate as possible, they must be taken before 10am in the morning and fasting

Hormones commonly tested include:

• Testosterone: Low levels (below 12nmol/l) can affect sperm production.
• Follicle-stimulating hormone (FSH): High levels may indicate problems with sperm production(as opposed to when there is obstruction and then I would expect the FSH to be below the level of 8 IU
• Luteinizing hormone (LH): High levels may suggest problems with testosterone production.
• Prolactin: Elevated levels might interfere with testosterone production.
• Thyroid hormones: Thyroid disorders can affect fertility

Genetic testing:

These tests will be performed if the sperm count is low (typically less than 5million/ ml to identify any genetic abnormalities that could contribute to infertility. They will include:

• Karyotype analysis to check for chromosomal abnormalities
• AZF microdeletion

An AZF (Azoospermia Factor) microdeletion refers to a genetic condition where the area that codes for sperm production on the Y chromosome has been deleted.
There are three main types of microdeletion:

• • AZFa
  • AZFb
  • AZFc

When these regions are deleted or disrupted it can lead to azoospermia (a complete absence of sperm in semen, or severe oligospermia, where sperm count is significantly reduced)

• Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.

This CFTR protein is also involved in the development and function of the reproductive tract, particularly the vas deferens, which is the tube that carries sperm from the testes to the urethra.

Mutations in the CFTR gene can lead to a condition called congenital bilateral absence of the vas deferens (CBAVD), where the vas deferens fails to develop properly or is absent altogether.
This will lead to obstructive azoospermia. The testicle continues to produce sperm, it just cannot leave the testicles to reach the ejaculate.

Men who carry one of the genes (so have the trait not the disease and therefore would not know unless they had the specific genetic test ) or men who actually have cystic fibrosis can have problems with their fertility.

It’s important to note that not all males with cystic fibrosis mutations will experience infertility, as the severity of the mutations and their impact on CFTR function can vary. However, infertility due to CBAVD is relatively common among men with CF gene mutations.