Male are the sole cause of infertility in approximately 20% of infertile couples and are an important contributing factor in another 20-40% of couples with reproductive failure. Male infertility can result from a variety of causes. Some, like ductal obstruction and hypogonadotropic hypogonadism, can be accurately defined and effectively treated. Genetic abnormalities can cause infertility by in...

Male factor infertility is a complex disorder, affecting approximately 10-15% of couples worldwide, however many of its aetiologies are unknown [1,2]. With the advent of assisted reproductive technology (ART), men with sub-optimal sperm quality are now able to overcome natural selection mechanisms and produce viable offspring [3]. Since ART is a relatively new phenomenon, the impact of inherita...

Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association b...

A genetic basis of infertility may exist in many men currently classified as having idiopathic infertility. Approximately 7% of infertile men harbour submicroscopic deletions of the Y chromosome that are not detectable on routine karyotype. Two candidate gene families, namely the RNA-binding motif-containing gene family, and the deleted-in-azoospermia gene family, have been cloned by deletion m...

Oxidative stress and reactive oxygen species (ROS) are generated from both endogenous and environmental resources, which in turn may cause defective spermatogenesis and male infertility. Antioxidant genes, which include catalase (CAT), glutathione peroxidase (GPX), glutathione S-transferase (GST), nitric oxide synthase (NOS), nuclear factor erythroid 2-related factor 2 (NRF2), and superoxide di...

Infertility is a major health problem today, affecting about 15.0% of couples trying to have a child. Impaired fertility of the male is causative in 20.0% of infertile couples and contributory in up to another 30.0-40.0%. Infertility already affects about 5.0-7.0% of the general male population and may further increase in the future, considering the apparent trend of declining sperm count in in...

Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome syna...

Men with severe oligospermia (<5 million sperm/mL ejaculate fluid) or azoospermia should receive genetic testing to clarify etiology of male infertility prior to treatment. Categorization by obstructive azoospermia (OA) or non-obstructive azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and follicle-stimulati...