Genetic causes of male infertility

Özçelik

2010

J Assist Reprod Genet

Purpose To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population. Methods and patients A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted. Results The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter's Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p<0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p<0.05) Conclusions The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Özçelik

2010

J Assist Reprod Genet

“…Klinefelter's syndrome (47, XXY) is the major sex chromosomal/numerical defect detected in newborn males (0.1-0.2 %) [22]. The prevalence of KS among infertile men is very high, up to 5 % in severe oligozoospermia and 10 % in azoospermia [23].…”

Section: Klinefelter's Syndrome (Ks)mentioning

confidence: 99%

“…The ES signaling is known to be mediated by at least two functional isoforms of estrogen receptors (ER) known as ERα and ERβ that are encoded by two different genes on the long arm of chromosomes six (6q25) and 14 (14q23-24), respectively [22]. In human testis, ERα and ERβ were also found in ejaculated spermatozoa, early meiotic spermatocytes and elongated spermatids-independent ERα signaling is important for concentrating epididymal sperm, whereas estrogen-mediated ERβ signaling is essential for germ cell progression or viability [96].…”

Section: The Estrogen Receptors (Esr) Genes Mutationsmentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

109

Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

“…13 To date it has been estimated that genetic factors including chromosome aberrations and single gene defects account for approximately 10%-15% of severe male factor infertility. 14 It is inevitable that as our understanding of genetic and molecular mechanisms of gamete formation, transport, fertilization and implantation improves that most, if not all male infertility will have some identifiable genetic component. One such example includes a study that reports up to 6% of male patients presenting to infertility clinics with a normal somatic karyotype have been found to have meiotic alterations in their spermatogenic cells.…”

Section: Known Genetic Factors Associated With Male Factor Infertilitymentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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 synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.