Research Article

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chromosome; Klinefelter’s syndrome; Male infertility; Preimplantation genetic diagnosis; Prenatal diagnosis

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping ... more

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Gene polymorphism; Male infertility; Methylenetetrahydrofolate reductase; Prospective study

The aim of this study was to explore the relationship between 2 genetic polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR), C677T and A1298C, and determine the long-term reproductive outcome in infertile men. This was a prospective study conducted in an andrology clinic. Men with a 1-year history of infertility were assessed for the MTHFR polymorphisms ... more

S.S. Li; J. Li; Z. Xiao; A.G. Ren; L. Jin
Genetic polymorphism; Male infertility; MDR1 (ABCB1); P-glycoprotein

Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired repro­ductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug re­sistance1 (MDR1) gene encodes a P-glycoprotein which has ... more

S.E. Aydos; A. Karadağ; T. Özkan; B. Altınok; M. Bunsuz; S. Heidargholizadeh; K. Aydos; A. Sunguroĝlu
Male infertility; Methionine synthase; Methionine synthase reductase; Methylenetetrahydrofolate reductase; Single-nucleotide polymorphism

We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or ... more

X.Y. Li; J.Z. Ye; X.P. Ding; X.H. Zhang; T.J. Ma; R. Zhong; H.Y. Ren
Assisted human reproduction; AZF; Male infertility; Y microdeletions

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 ... more

J.T. Arruda; B.M. Bordin; P.R. Santos; W.E.J.C. Mesquita; R.C.P.C. Silva; M.C.S. Maia; M.S. Approbato; R.S. Florêncio; W.N. Amaral; M.A.Rocha Filho; K.K.V.O. Moura
Androgen receptor; AR gene; Male infertility; Spermatogenesis; Teratozoospermia

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), ... more

W.E.J.C. Mesquita; M.S. Approbato; K.K.V.O. Moura; R.S.A. Jesuíno
GSTM1; GSTT1; Male infertility; Xenobiotics

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 ... more

A.C.F. Finotti; R.C.P.Costa e Silva; B.M. Bordin; C.T.X. Silva; K.K.V.O. Moura
Azoospermia; Chromosomal abnormality; Male infertility; Severe oligozoospermia; Y chromosome microdeletion

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 ... more

G.G. Ceylan; C. Ceylan; H. Elyas
Male infertility; vertical transmission; Y chromosome

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 ... more

R.G. Rodovalho; J.T. Arruda; K.K.V.O. Moura
AZF regions; Male infertility; STS markers; Y-chromosome microdeletion

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 ... more

L.K. Pandey; S. Pandey; J. Gupta; A.K. Saxena