Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M694V, M694I, V726A, P369S, and A744S, in 74 infertile men, 155 men diagnosed with familial Mediterranean fever and 55 healthy fertile men in eastern Turkey.
Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on sequence-tagged site markers and genotype-phenotype correlation. We examined the prevalence of Yq- deletion in 64 clinically diagnosed infertile male patients.
Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infertility who showed deletions in the AZF region. In family 1, the father and a brother did not show microdeletions.
Male infertility is a heterogeneous disorder, with various genetic and environmental factors that contribute to the impairment of spermatogenesis. Genetic causes are responsible for 60% of cases of idiopathic infertility. Polymorphisms of genes that encode detoxifying enzymes of phase II drug metabolism can modify their expression or function, affecting the biotransformation of toxic compounds to which the male reproductive system is exposed.
Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in 90 patients with severe male factor infertility and 75 fertile control men.
The androgen receptor (AR) is a protein encoded by the AR gene, which when mutated may affect spermatogenesis, the process in which spermatozoa are produced; thus, AR mutations could lead to male infertility. We examined exon 1 of the AR gene in men with idiopathic infertility. Blood or semen samples from 111 infertile, oligozoospermic (N = 31), asthenozoospermic (N = 23), teratozoospermic (N = 33), and azoospermic (N = 24) men were analyzed. The extracted DNA was amplified for the exon 1 region of the AR gene.
Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as part of a screening of patients who plan to undergo assisted reproduction. Analysis was made of the AZF region of the Y chromosome in men who had altered spermograms to detect possible microdeletions in Yq.