Male Infertility

Question 1

What are spermatogenesis defects?

Answer 1

Genetic mutations affecting genes involved in spermatogenesis can lead to male infertility.

Question 2

Which genes are associated with spermatogenesis defects?

Answer 2

Mutations in genes such as SYCP3, TEX11, and PRDM9 can disrupt meiotic processes and impair sperm development.

Question 3

What role do transcription factors play in spermatogenesis?

Answer 3

Abnormalities in the regulation of transcription factors like SOx9 and DMRT1 can disrupt spermatogenesis and impair sperm production.

Question 4

What is congenital absence of the vas deferens (CAVD)?

Answer 4

CAVD is a disorder affecting sperm transport due to mutations in the CFTR gene, leading to obstructive azoospermia.

Question 5

What factors can impair sperm motility and function?

Answer 5

Defects in mitochondrial function, flagellar proteins (e.g., DNAH1, DNAH5), and ion channels (e.g., CATSPER1) can impair sperm movement and fertilization capability.

Question 6

What are hormonal imbalances in male infertility?

Answer 6

Disorders of hormone production or signaling pathways can disrupt male reproductive function.

Question 7

What is hypogonadotropic hypogonadism?

Answer 7

It is caused by mutations in genes such as GnRH, KISS1R, or GNRHR, leading to low levels of testosterone and impaired sperm production.