Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosoma...

Approximately 15% of couples in the reproductive age group worldwide are affected by infertility, and it is estimated that about 40-50% of infertilities are of male origin. Genetic factor accounts for 10-15% of severe male infertility, including chromosomal aberrations and single gene mutations (Ferlin et al, 2006). After the Klinfelter syndrome, Y chromosomal microdeletions are the most freque...

The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches to male infertility. Recombinant DNA technology makes it possible to detect specific chromosomal ...

The choice of adoption over genetic parenthood was investigated in 105 women retrospectively by questionnaire. Participants were divided into four groups: female/male subfertility; female subfertility; male subfertility; and female/male fertility. Half the sample (59/105) answered the question about the importance of a genetic link. Women who failed to adopt thought a genetic link was important...

Progress in the field of assisted reproduction, and particularly micromanipulation, now heralds a new era in the management of severe male factor infertility, not amenable to medical or surgical correction. By overcoming natural barriers to conception, in vitro fertilization and embryo transfer (IVF-ET), subzonal sperm insemination, partial zona dissection, and intracytoplasmatic injection of s...

PURPOSE OF REVIEW The purpose of this review is to highlight the most important advances in the field of genetics of male infertility, with particular attention to primary articles dealing with the identification of new genetic and epigenetic markers that could be translated into clinical practice in the near future. RECENT FINDINGS Copy number variations (CNVs) of the Y chromosome (gr/gr) de...

The introduction of ICSI and testicular sperm extraction (TESE) has allowed many infertile men to father children. The biggest concern about the wide use of these techniques is the health of the resulting offspring, in particular their fertility status. If the spermatogenic defect is genetic in origin, there is potential risk of transmitting this defect to future offspring. The most frequently ...

background: male infertility is a multifactorial disorder, which affects approximately 10% of couples at childbearing age with substantial clinical and social impact. genetic factors are associated with the susceptibility to spermatogenic impairment in humans. recently, sept12 is reported as a critical gene for spermatogenesis. this gene encodes a testis specific member of septin proteins, a fa...

OBJECTIVE To investigate a kallikrein-related peptidase 2 (KLK2) single nucleotide polymorphism (SNP) in relation to male infertility because of its role in semen processing. We investigated the genetic association of the KLK2+255G>A genotype with male infertility. METHODS We genotyped the SNP site located in intron 1 (+255G>A, rs2664155) of KLK2 from 218 men with male infertility (cases) and...

Infertility is a complex human condition and is known to be caused by numerous factors including genetic alterations and abnormalities. Increasing evidence from studies has associated perturbed epigenetic mechanisms with spermatogenesis and infertility. However, there has been no consensus on whether one or a collective of these altered states is responsible for the onset of infertility. Epigen...