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Kim Ji Won - - 2011
In this report, we describe 10 male cases of complex chromosome rearrangements (CCRs) with fertility problems: seven of them showed impairment of spermatogenesis, oligoasthenoteratozoospermia or azoospermia; in the other three cases, recurrent abortions were observed. The CCRs were characterized by conventional fluorescence in situ hybridization (FISH) and multicolor FISH methods ...
Chen Xueyan - - 2011
This study investigated the underlying chromosomal abnormalities of testicular failure using molecular cytogenetic analysis. We report 2 cases of rare genetic anomalies that resulted in hypogonadism. The first patient presented with severe hypogonadism. Chromosome analysis revealed a mosaic 46,X,r(Y) (p11.3q11.23)/45,X karyotype, with a ring Y chromosome. A Y chromosome microdeletion ...
Wettasinghe Tithila Kalum - - 2010
Many advances have been made in reproductive medicine, yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in ∼7% of men with low sperm counts and, compared with the general ...
Antonelli A - - 2011
Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype-phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of ...
Dul E C - - 2010
Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities. We performed a retrospective cohort study in azoospermic men and men eligible for ICSI. We determined the ...
Shahid Mohammad - - 2011
Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in ∼10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion ...
Hadjkacem-Loukil Lobna - - 2010
The preponderance of experimental data from clinical and animal models demonstrates an adverse effect of varicocele on spermatogenesis. The review of the literature shows that there may be an underlying genetic etiology in varicocele. Here, we explore the Yq microdeletions among infertile men to evaluate their involvement in varicocele development ...
Mirfakhraie Reza - - 2010
Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of ...
Longepied Guy - - 2010
Deletion of the entire AZFb interval from the Y chromosome is strictly associated with azoospermia arising from maturation arrest during meiosis. Here, we describe the exceptional case of an oligozoospermic man, 13-1217, with an AZFb + c (P5/distal-P1) deletion. Through the characterization of this patient, and two AZFb (P5/proximal-P1) patients ...
Shi Y-C - - 2010
Summary We report a case of an infertile man with severe oligoasthenoteratozoospermia with a partial azoospermia factor b (AZFb) deletion and duplication region within chromosome Yp11.2. The hormonal profile was normal for serum concentrations of follicle-stimulating hormone, luteinizing hormone, testosterone and oestradiol. The patient, who showed a 46,XY karyotype, had ...
Zuccarello Daniela - - 2010
A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phenotypically normal individual. Testicular cytological analysis showed hypospermatogenesis with a complete spermatogonial arrest. The majority of subjects with constitutional r(22) are dysmorphic and mentally retarded due to deletion of a sizable segment of the chromosome 22q. ...
Uroz Laia - - 2011
To determine the basal frequencies of meiotic chromosome abnormalities in fertile men. Descriptive design. Research university laboratory and clinical andrology service. Seventeen fertile donors undergoing vasectomy. Analysis of testicular biopsies. Meiotic chromosome abnormalities in metaphase I spermatocytes. A total of 1,407 spermatocytes I was analyzed. The main meiotic abnormality was ...
Sin Ho-Su - - 2010
The relationship between male infertility and gr/gr deletions that remove multiple genes of the Y chromosome varies among countries and populations. The aim of this study was to investigate the association between gr/gr deletions and spermatogenic phenotype in fertile and infertile Japanese men. The subjects were screened by sequence-tagged site ...
Mateu Emilia - - 2010
In patients with Y chromosome microdeletions and high percentage of numeric chromosome abnormalities detected by fluorescence in situ hybridization on sperm, a high percentage of abnormal embryos was observed compared with oligozoospermic patients without Y chromosome microdeletions, with a significant increase in the percentage of embryos with monosomy X. Differences ...
Tüttelmann F - - 2011
The clinical workup of the infertile male with azoospermia aims at determining the aetiology and estimating the chances of finding spermatozoa by testicular sperm extraction (TESE). To establish prognostic criteria, 1583 consecutive patients with azoospermia consulting the Centre of Reproductive Medicine and Andrology, Münster, a tertiary referral centre, between 1976 ...
Khan Faizan Haider - - 2010
Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to ...
Plotton Ingrid - - 2010
To study a transmissible partial AZFb and -c microdeletion. Case report. Service of Reproductive Medicine, Molecular Biology, CHU Lyon, France. A case of oligoasthenospermia with partial spermatogenic failure. Screening for Yq microdeletions revealed the absence of sY143, suggesting an AZFb microdeletion. Sequence-tagged site mapping indicated that the deletion encompassed a ...
Kilic Sevtap - - 2010
The 45,X/46,XY mosaic karyotype is expressed by a spectrum of genital phenotypes, ranging from normal males through to ambiguous genitalia and to normal females. We present three cases of men with azoospermia or severe oligozoospermia, and a 45,X/46,XY mosaic karyotype and two with a Y-chromosome microdeletion. Phenotypically, they appeared as ...
Wang Rui-Xue - - 2010
To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world. 305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. ...
Navarro-Costa Paulo - - 2010
The three azoospermia factor (AZF) regions of the Y chromosome represent genomic niches for spermatogenesis genes. Yet, the most distal region, AZFc, is a major generator of large-scale variation in the human genome. Determining to what extent this variability affects spermatogenesis is a highly contentious topic in human reproduction. In ...
Guo Xuejiang - - 2010
Spermiogenesis is a unique process in mammals during which haploid round spermatids mature into spermatozoa in the testis. Its successful completion is necessary for fertilization and its malfunction is an important cause of male infertility. Here, we report the high-confidence identification of 2116 proteins in mouse haploid germ cells undergoing ...
Yatsenko Alexander N AN Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, - - 2010
The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and ...
Schiff Jonathan D - - 2010
OBJECTIVE: To define the prevalence of low-level sex chromosome mosaicism in a cohort of infertile men. DESIGN: Prospective cohort study of infertile men. SETTING: Tertiary university infertility center. PATIENT(S): One hundred one consecutive men who presented with primary infertility for evaluation. INTERVENTION(S): Fluorescent in situ hybridization for X and Y ...
McLachlan Robert I - - 2010
Intracytoplasmic sperm injection (ICSI) now provides fertility in many cases of severe idiopathic spermatogenic failure and obstructive azoospermia. Genetic causes must be sought by systematic evaluation of infertile men and affected couples informed about the implications of such diagnoses for assisted reproductive technology outcome and their potential offspring. This review ...
Pandey L K - - 2010
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 ...
Navarro-Costa Paulo - - 2010
The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF ...
Koşar Pinar Aslan - - 2010
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. A total of 115 infertile males (92 were azoospermic, ...
Yang Y - - 2010
As a common variation in the azoospermia factor c (AZFc) region of Y chromosome, the gr/gr deletion is regarded as a significant risk factor for spermatogenic impairment, whereas the association of the deletion's phenotypic expression with Y-chromosomal background is still a subject of debate. To further investigate the contribution of ...
Yatsenko A N AN Department of Pathology, Baylor College of Medicine, Houston, TX 77030, - - 2010
Approximately 80 million people worldwide are infertile, and nearly half of all infertility cases are attributed to a male factor. Therefore, progress in reproductive genetics becomes crucial for future diagnosis and treatment of infertility. In recent years, enormous progress has been made in this field. More than 400 mutant mouse ...
Hotaling James M - - 2009
Male infertility lies at the crossroads of genetic determinants and environmental effects. Although the exact genetic mechanisms of male infertility are still unclear, this disorder is associated with a host of medical diseases, including testicular cancer. Testicular dysgenesis syndrome, the Hiwi protein and chromosome 12 aneuploidy, DNA mismatch repair, and ...
Koç Altuğ - - 2009
Supernumerary marker chromosome 15 (sSMC[15]) is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region (PWACR). The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to ...
Stouffs Katrien - - 2009
BACKGROUND: Male infertility is a worldwide problem, keeping many researchers puzzled. Besides environmental factors, much attention is paid to single gene defects. In this view, the sex chromosomes are particularly interesting since men only have a single copy of these chromosomes. The involvement of the Y chromosome in male infertility ...
Wang Wei - - 2009
AIM: To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. METHODS: G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs. RESULTS: The karyotype of this patient was established as ...
Poongothai J - - 2009
Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two years without conception. Approximately 15 percent of couples are infertile, and among these couples, male factor infertility accounts for approximately 50 percent of causes. Male infertility is a multifactorial syndrome encompassing ...
Kumtepe Yakup - - 2009
Male factor infertility is the sole reason in approximately 25% of couples who suffer from infertility. Genetic factors such as numerical and structural chromosomal abnormalities and microdeletions of the Y chromosome might be the cause of poor semen parameters. The results of karyotype analyses and Y-chromosome microdeletions of 1935 patients ...
Avenarius Matthew R - - 2009
Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no CATSPER gene has been identified as causative for human male infertility, male mice deficient for ...
Ferguson Kyle A - - 2009
BACKGROUND: In a previous study on severely infertile men, we observed alterations in the number of meiotic crossovers; however, it is unknown if these men also show alterations in the position of crossovers. METHODS: Spermatocytes from 15 men (5 control men and 10 infertile men) were immunostained to observe the ...
Omrani, Mir Davood
Background: Cytogenetic analysis, Y-chromosome microdeletion screening, FISH techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade. Objective: In the present study, we characterized an abnormal Y-chromosome, detected as a mosaic in an azoospermic male ascertained for ...
Ng Paulina P Y - - 2009
OBJECTIVE: To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL. DESIGN. Retrospective study. SETTING: A reproductive centre in Hong Kong. PARTICIPANTS: A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies ...
Akgul M - - 2009
PURPOSE: In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir. METHODS: The records of a total of 179 cases were evaluated retrospectively. RESULTS: A total of 21 cases (11.74%) showed chromosomal alteration. ...
Salahshourifar I - - 2009
Here we describe a rare case of an apparently balanced karyotype of 46, XY, t(1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex chromosomal rearrangement (CCR) referred to our center because of infertility. We also review reports on 24 males carrying CCRs with spermatogenesis ...
El-Dahtory Faeza - - 2009
47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility. We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of ...
Shaqalaih Ashraf J - - 2009
Infertility is an extraordinary public health problem in the Arab world, as it affects about 15% of couples seeking children. The male partner is responsible for infertility in approximately half of these cases. Classic microdeletions of the Y-chromosome involving the azoospermia factor (AZF) regions are known to be associated with ...
Belangero Síntia Iole Nogueira - - 2009
OBJECTIVE: To report a man with primary infertility and variant karyotype. DESIGN: Case report. SETTING: Private practice. PATIENT(S): A 37-year-old man with 4 years of primary infertility due to oligoasthenozoospermia. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): G- and C-banding. Polymerase chain reaction for SRY, DBY, RBMY, DAZ, AMELX, and AMELY. RESULT(S): ...
Kumar Rakesh - - 2008
BACKGROUND: Chromosomal anomalies have been postulated to be one of the principal genetic factors in reproductive failure. The principal structural anomalies are Robertsonian translocations which occur at a total frequency of rate 1.23 per thousand in newborns. Since most infertile men with Robertsonian translocation are oligospermic, they are good candidates ...
Plaseski Toso - - 2008
The most common genetic causes of spermatogenic failure are sex chromosomal abnormalities (most frequently Klinefelter's syndrome) and deletions of the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) of the Y chromosome. Several studies have proposed that partial AZFc deletions/duplications may be a risk factor for spermatogenic impairment. We describe ...
Malago Roberto - - 2008
OBJECTIVE: Thyroid volume quantification is an important parameter for radiotherapy dosing in cases of major thyroid diseases such as thyroiditis and carcinoma. In clinical practice, this calculation is performed by means of ultrasonography on the basis of an ellipsoid formula obtained from the 3 axes. The aim of our study ...
Ravel Celia - - 2009
OBJECTIVE: To determine if there is a relationship between various forms of partial AZFc deletions and spermatogenic failure. DESIGN: Case-control study. SETTING: Infertility clinic (Tenon Hospital, Paris). PATIENT(S): 557 men, comprising 364 infertile men from mixed ethnic backgrounds, and 193 men with known fertility (n = 84) and/or normospermic (n ...
Zhu Yi-Jian - - 2008
To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. In total, 178 infertile patients with azoospermia (non-obstructed), 134 infertile patients with oligozoospermia as ...
Sadeghi-Nejad Hossein - - 2008
PURPOSE OF REVIEW: Therapies for the treatment of severe male factor infertility have advanced well beyond our knowledge of the conditions we are treating. An intact Y chromosome is necessary for optimal spermatogenesis. It is imperative for the clinician to understand the molecular basis and clinical implications of anomalies that ...
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