scholarly journals The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients

2014 ◽  
Vol 8 ◽  
pp. CMRH.S15475
Author(s):  
Gleice Cristina dos Santos Godoy ◽  
Bianca Borsatto Galera ◽  
Claudinéia Araujo ◽  
Jacklyne Silva Barbosa ◽  
Max Fernando De Pinho ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Culture Technique ◽  
Common Finding ◽  
Infertile Couple ◽  
Severe Oligozoospermia ◽  
Cross Sectional ◽  
Mato Grosso ◽  
Factor C

Objective To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. Methods This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR). Results With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46, XY, delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%). Conclusions The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).

scholarly journals Prevalence of Abnormal Karyotypes among Males with Non-obstructive Azoospermia and Severe Oligozoospermia: A Retrospective Study

2021 ◽  
Author(s):  
Priya Narayanan ◽  
PR Ashalatha
Keyword(s):  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Marker Chromosome ◽  
Gene Mutations ◽  
Obstructive Azoospermia ◽  
Transmembrane Conductance Regulator ◽  
Severe Oligozoospermia ◽  
Polymorphic Variants ◽  
Specific Disorders

Introduction: Chromosomal abnormalities are one of the important causes of male infertility. Numerical and structural chromosomal abnormalities are seen frequently in men with azoospermia and severe oligospermia. Other abnormalities include Y Chromosome Microdeletions (YCMD), Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations affecting the internal ductal system, genes affecting sperm function and other non-specific disorders. Upto 14% of the men with azoospermia and severe oligospermia have karyotypic abnormalities. Aim: To determine the prevalence of abnormal karyotypes among men with azoospermia and severe oligozoospermia (<5 million/mL). Materials and Methods: The present study was a retrospective observational study carried out at the Fertility Clinic, Institute of Maternal and Child Health, Calicut, Kerala, India, on patients who attended the Infertility Department between January 2016 to December 2019. Semen analysis was done on 232 patients with 100 patients of azoospermia and 132 patients of oligozoospermia. Karyotyping was done from the Cytogenetics Unit, Department of Anatomy. The data was entered in MS excel sheet and analysed and results were expressed in percentage. Results: Chromosomal abnormalities were detected in 35 (35%) of 100 azoospermia and 15 (11.3%) of 132 severe oligospermia cases analysed. Klinefelter syndrome was the most common abnormality detected in azoospermia (22/35). A 46XX was found in two cases. Structural abnormalities were detected in three case (46 X, der X, 46XY der Chr 1 and Chr 9 inversion). Small Y was found in three cases. Polymorphic variants were found in five patients (46XY 15pstk+, 46XY 15ps+, 46XY 1qh+, 46XY 9qh+). Small Y was found in one case. In oligozoospermia, autosomal translocations were found in four cases {46XY, t(11;13)(q21;q21.2), 46XY, t(1;9) (p13;p21), 46XY, t(13;15)(q34;q21), 46XY, t(7,14) (q34:q11)}, Derivative (46XY der 15) and Marker chromosome (47XY+mar) in one case each. Klinefelter syndrome was found in two cases and 48XXYY was found in one patient. Polymorphic variants were found in five cases (46XY 21pstk,46XY 15ps+, 46XY 1qh-, 48XY 9qh+). Small Y was found in one case. Conclusion: Sex chromosomal and autosomal abnormalities are found frequently in azoospermia and severe oligospermia and hence, genetic screening and counseling before Intracytoplasmic Sperm Injection (ICSI) is warranted.

scholarly journals The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

2021 ◽  
pp. 159-164
Author(s):  
Yavuz Onur Danacıoglu ◽  
Mustafa Gürkan Yenice ◽  
Fatih Akkas ◽  
Mustafa Soytas ◽  
Serhat Seyhan ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Assisted Reproductive Techniques ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Genetic Causes ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Reproductive Techniques

Objective: Advances in the science of genetics and the development of assisted reproductive techniques focus on the genetic causes of infertility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneuploidy and Y chromosome microdeletions. Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined. Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 infertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group. Conclusion: The incidence of genetic causes have been increasing with the severity of infertility. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques. Keywords: azospermia, chromosome, infertility, microdeletion, oligozoospermiaage

scholarly journals The frequency of cytogenetic abnormalities in idiopathic oligospermia and azoospermia infertile men in Chaharmahal and Bakhtiari province: a cross-sectional study

2020 ◽  
Vol 22 (1) ◽  
pp. 6-10
Author(s):  
Hamideh Jafari- Ghahfarrokhi ◽  
Delnya Gholami ◽  
Mohammad Rajaie Esfahani ◽  
Hossein Teimori
Keyword(s):  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Structural Type ◽  
Cross Sectional Study ◽  
Peripheral Blood Lymphocytes ◽  
Sectional Study ◽  
Cross Sectional ◽  
Cytogenetic Abnormalities ◽  
Infertile Men ◽  
Complex Correlation

Background and aims: Infertility is one of the main health issues in families worldwide. In addition, there is a complex correlation between genetics and infertility and chromosomal abnormalities are found in 8% of infertile males. The aim of this study was to determine the frequency of cytogenetic abnormalities among idiopathic oligospermia and azoospermia infertile men who were treated in Chaharmahal and Bakhtiari province. Methods: In this cross-sectional study, the records of a total of 100 participants were evaluated retrospectively. The patients who were under careful physical and para-clinical (i.e., hormonal, ultrasound, and spermiogeram) examinations were enrolled in the study. Chromosomal analysis was carried out on the cultures of peripheral blood lymphocytes by Giemsa (G) banding. Eventually, 10 well-spread metaphases were analyzed by G-banding. Result: The chromosome abnormality frequency, the numerical type, and the structural type were 13%, 3%, and 10%, respectively. Among patients with azoospermia, two cases had Klinefelter syndrome with karyotype. Conclusion: This study demonstrated that structural abnormalities are more prevalent than numerical abnormalities in infertile men who were treated in Chaharmahal and Bakhtiari province. This indicates the importance of cytogenetic examination and the relevance of its achievements to the patient’s management in infertility clinics. Therefore, the cytogenetic test is proposed for infertile men, in particular in those who endure azoospermia.

scholarly journals MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

2017 ◽  
Vol 177 (5) ◽  
pp. R249-R259 ◽  
Author(s):  
Albrecht Röpke ◽  
Frank Tüttelmann
Keyword(s):  
Male Infertility ◽  
X Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Genetic Defect ◽  
Point Mutations ◽  
Disorders Of Sex Development ◽  
Infertile Male ◽  
Severe Oligozoospermia ◽  
Chromosomal Genes

Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno’s law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno’s law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

scholarly journals Canine visceral leishmaniasis in riverside communities of the Cuiabá river watershed

2019 ◽  
Vol 40 (6Supl2) ◽  
pp. 3313
Author(s):  
Valéria Régia Franco Sousa ◽  
Álvaro Felipe de Lima Ruy Dias ◽  
Juliana Yuki Rodrigues ◽  
Mariana de Medeiros Torres ◽  
Janaína Marcela Assunção Rosa Moreira ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Visceral Leishmaniasis ◽  
Urban Areas ◽  
Axenic Culture ◽  
Antibody Test ◽  
Enzyme Linked Immunosorbent Assay ◽  
Lutzomyia Longipalpis ◽  
Cross Sectional ◽  
Mato Grosso ◽  
River Watershed

Visceral Leishmaniasis (VL) is a parasitic zoonosis expanding in Brazil. Several municipalities in the state of Mato Grosso including those on the river Cuiabá have reported the incidence of both human and canine cases and the identification of sandfly vector, Lutzomyia longipalpis and Lu. cruzi. Dogs are considered the main reservoir of Leishmania chagasi in the urban areas, hence, we devised a cross-sectional study aimed at assessing the prevalence of the infection in the dogs of riverside communities on Cuiabá River watershed by parasitological (parasitic isolation in culture), serological, and molecular methods. Of the 248 surveyed dogs, 24 were positive in enzyme linked immunosorbent assay (ELISA) or immunofluorescence antibody test (IFAT), with a prevalence of 9.7%. The riverside communities located in the town of Santo Antonio do Leverger displayed a higher prevalence of the disease than the cities of Cuiabá and Várzea Grande; however, the difference was not statistically significant (p > 0.05). Dogs born in the communities had a 3.24-fold higher risk of acquiring the infection. Promastigote were isolated in the axenic culture from the bone marrow samples and intact skin. Further, DNA of Leishmania sp. was detected in the bone marrow samples, lymph nodes, leukocyte cover, and skin of only one examined dog. These samples were sequenced and they showed 99% homology to L. infantum. To conclude, we observed a higher prevalence of infection in Riverside communities of Santo Antonio do Leverger and the confirmation of autochthony in these areas justifies the surveillance actions to minimise the risk of transmission within the riverine community itself, besides its dissemination to other areas by tourism.

scholarly journals Genetic program activity delineates risk, relapse, and therapy responsiveness in multiple myeloma

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Matthew A. Wall ◽  
Serdar Turkarslan ◽  
Wei-Ju Wu ◽  
Samuel A. Danziger ◽  
David J. Reiss ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Chromosomal Abnormalities ◽  
Transcriptional Regulatory Network ◽  
Progression Free Survival ◽  
Cross Sectional ◽  
Free Survival ◽  
Extreme Risk ◽  
Transcriptional Regulatory ◽  
Transcription Regulators ◽  
Immunosuppressive Microenvironment

AbstractDespite recent advancements in the treatment of multiple myeloma (MM), nearly all patients ultimately relapse and many become refractory to multiple lines of therapies. Therefore, we not only need the ability to predict which patients are at high risk for disease progression but also a means to understand the mechanisms underlying their risk. Here, we report a transcriptional regulatory network (TRN) for MM inferred from cross-sectional multi-omics data from 881 patients that predicts how 124 chromosomal abnormalities and somatic mutations causally perturb 392 transcription regulators of 8549 genes to manifest in distinct clinical phenotypes and outcomes. We identified 141 genetic programs whose activity profiles stratify patients into 25 distinct transcriptional states and proved to be more predictive of outcomes than did mutations. The coherence of these programs and accuracy of our network-based risk prediction was validated in two independent datasets. We observed subtype-specific vulnerabilities to interventions with existing drugs and revealed plausible mechanisms for relapse, including the establishment of an immunosuppressive microenvironment. Investigation of the t(4;14) clinical subtype using the TRN revealed that 16% of these patients exhibit an extreme-risk combination of genetic programs (median progression-free survival of 5 months) that create a distinct phenotype with targetable genes and pathways.

scholarly journals Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hassan Osman Alhassan Elsaid ◽  
Tarteel Gadkareim ◽  
Tagwa Abobakr ◽  
Eiman Mubarak ◽  
Mehad A. Abdelrhem ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Control Group ◽  
Male Factor ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Infertile Men ◽  
Significant Difference ◽  
Fisher’S Exact Test

Abstract Background Male factor is the major contributor in roughly half of infertility cases. Genetic factors account for 10–15% of male infertility. Microdeletions of azoospermia factors (AZF) on the Yq region are the second most frequent spermatogenesis disorder among infertile men after Klinefelter syndrome. We detected in our previous study a frequency of 37.5% AZF microdeletions which investigated mainly the AZFb and AZFc. We attempted in this study for the first time to evaluate the frequencies of all AZF sub-regions microdeletions and to analyze reproductive hormonal profiles in idiopathic cases of azoospermic and oligozoospermic men from Sudan. Methods A group of 51 medically fit infertile men were subjected to semen analysis. Four couples have participated in this study as a control group. Semen analysis was performed according to WHO criteria by professionals at Elsir Abu-Elhassan Fertility Centre where samples have been collected. We detected 12 STSs markers of Y chromosome AZF microdeletions using a multiplex polymerase chain reaction. Analysis of reproductive hormone levels including Follicle Stimulating, Luteinizing, and Prolactin hormones was performed using ELISA. Comparisons between outcome groups were performed using Student’s t-test Chi-square test or Fisher’s exact test. Results AZF microdeletion was identified in 16 out of 25 Azoospermic and 14 out of 26 of the Oligozoospermic. Microdeletion in the AZFa region was the most frequent among the 30 patients (N = 11) followed by AZFc, AZFd (N = 4 for each) and AZFb (N = 3). Among the Oligozoospermic participants, the most frequent deletions detected were in the AZFa region (N = 10 out of 14) and was significantly associated with Oligozoospermic phenotype, Fisher's Exact Test (2-sided) p = 0.009. Among the Azoospermic patients, the deletion of the AZFc region was the most frequent (N = 9 out of 16) and was significantly associated with Azoospermia phenotype Fisher's Exact Test p = 0.026. There was a significant difference in Y chromosome microdeletion frequency between the two groups. The hormonal analysis showed that the mean levels of PRL, LH, and FSH in Azoospermic patients were slightly higher than those in oligozoospermic. A weak negative correlation between prolactin higher level and Azoospermic patients was detected. (AZFa r = 0.665 and 0.602, p = 0.000 and 0.0004, AZFb r = 0.636 and 0.409, p = 0.000 and 0.025, and AZFd r = 0.398 and 0.442, p = 0.029 and 0.015). The correlation was positive for AZFa and negative for AZFb and AZFd. Conclusions We concluded in this study that the incidences of microdeletions of the Y chromosome confined to AZF a, b, c and d regions is 58.8% in infertile subjects with 31.4% were Azoospermic and 27.5% were Oligozoospermic. This might provide a piece of evidence that these specified regions of the Y chromosome are essential for controlling spermatogenesis. These findings will be useful for genetic counseling within infertility clinics in Sudan and to adopt appropriate methods for assisted reproduction.

Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length

2008 ◽  
Vol 29 (6) ◽  
pp. 654-660 ◽  
Author(s):  
S. G. Martinez-Garza ◽  
M. C. Gallegos-Rivas ◽  
M. Vargas-Maciel ◽  
J. M. Rubio-Rubio ◽  
M. E. de los Monteros-Rodriguez ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Y Chromosome ◽  
Genetic Screening ◽  
Chromosomal Abnormalities ◽  
Repeat Length ◽  
Cag Repeat ◽  
Chromosome Deletions ◽  
Mexican Men

scholarly journals Prevalence of Hyposalivation in Patients with Systemic Lupus Erythematosus in a Brazilian Subpopulation

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Cristhiane Almeida Leite ◽  
Marcial Francis Galera ◽  
Mariano Martínez Espinosa ◽  
Paulo Ricardo Teles de Lima ◽  
Vander Fernandes ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Salivary Flow ◽  
Cross Sectional Study ◽  
Systemic Lupus ◽  
Cross Sectional ◽  
Mato Grosso ◽  
Significance Level ◽  
Factors Associated ◽  
Study Population

Background.Systemic lupus erythematosus (SLE) is a chronic inflammatory, multisystem, and autoimmune disease.Objective.The aim of this study was to describe the prevalence of hyposalivation in SLE patients and evaluate factors associated.Methods.This is a cross-sectional study developed at the Cuiaba University General Hospital (UNIC-HGU), Mato Grosso, Brazil. The study population consisted of female SLE patients treated at this hospital from 06/2010 to 12/2012. Unstimulated salivary flow rates (SFRs) were measured. Descriptive and inferential analyses were performed in all cases using a significance levelP<0.05.Results.The results showed that 79% of patients with systemic lupus erythematosus suffered from hyposalivation and that the disease activity and age in years were the factors that resulted in statistically significant differences.Conclusion.The activity of the disease, age >27 years, and the drugs used were factors associated with hyposalivation, resulting in a statistically significant decrease in saliva production.

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