scholarly journals AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province

2017 ◽  
Vol 5 (3) ◽  
pp. 239 ◽  
Author(s):  
Rana Adel Hanoon ◽  
Alaa Hani Raziq ◽  
Farida Fariq Nerwey
Keyword(s):  
Y Chromosome ◽  
Seminal Fluid ◽  
Histopathological Examination ◽  
Genetic Diseases ◽  
Testicular Biopsy ◽  
Normal Serum ◽  
Proteinase K ◽  
Histopathological Study ◽  
Obstructive Azoospermia ◽  
Azoospermia Factor

Y chromosome micro-deletion (YCM) is a group of genetic diseases caused by missing gene (s) in specific regions of the Y chromosome. Many individuals with YCM show no manifestations and lead normal life. On the other hand, YCM is known to exist in a significant number of infertile males. Forty adult patients suffering from severe oligospermia and azoospermia were enrolled in the present study. Seminal fluid analyses were performed, and a blood sample was obtained for hormonal analysis and DNA extraction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) profiles were measured and those who are azoospermic with normal FSH levels were subjected to testicular biopsy. The results revealed that 23 patients were azoospermic while 17 patients were severe oligospermic. It is also shown that ten azoospermic patients had normal serum gonadotrophin levels thus they were directed for testicular biopsy. Histopathological examination of testicular biopsy showed that four patients had obstructive azoospermia while the remaining six suffered maturation arrest. DNA was extracted according to the standard proteinase K/phenol-chloroform method in the medical biotechnology laboratory/Scientific Research Center/University of Duhok. Multiplex PCR was performed for genes located in the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) to detect any possible micro-deletions. Y chromosome micro-deletions were determined in 26 patients out of a total of 40 patients. Micro-deletions in the AZFc sub-region appeared in 16 out of 26 patients (61.5 %), and 10 (38.5 %) sample showed AZFb, however, AZFa micro-deletion was not detected in any of the patients. In conclusion, it has been found that Y chromosome micro-deletions in the AZF region can be a determining factor for male infertility and the resultant manifestations.

scholarly journals Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia— From Genetics to Clinical Practice

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Jolijn Van Cauwenberghe ◽  
Sigri Beckers ◽  
Peter Coremans
Keyword(s):  
In Situ Hybridization ◽  
Y Chromosome ◽  
Seminal Fluid ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Testicular Biopsy ◽  
Nonobstructive Azoospermia ◽  
Maturation Arrest ◽  
Y Chromosome Microdeletions

Azoospermia is diagnosed when no spermatozoa can be detected after centrifugation of seminal fluid on at least two separate occasions. A number of genetic disorders can be related to nonobstructive azoospermia, and in up to 15% of azoospermic males, a genetic disorder is diagnosed. A 36-year-old male with nonobstructive azoospermia was referred to our department of diabetes and endocrinology due to an aberrant testicular biopsy. The biopsy showed a disrupted spermatogenesis with a maturation arrest at the spermatocyte level in most tubuli seminiferi while others showed a Sertoli cell-only syndrome. Screening for Y chromosome microdeletions on peripheral blood using molecular analysis detected a terminal deletion of AZFbc. The result of karyotyping and fluorescence in situ hybridization (FISH) described an isodicentric Y chromosome with karyotype 46,X,idic(Y)(q11.22). Based on this case and the current available literature, we conclude that performing a testicular biopsy in patients with a nonmosaic idic(Y)(q) is not meaningful and that the prognosis on infertility is poor. Biological fatherhood is extremely unlikely in these patients, and proper counselling should be provided.

scholarly journals Novel Variants in HFM1 Lead to Male Infertility Due to Non-obstructive Azoospermia

2021 ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Gene Variation ◽  
Y Chromosome Microdeletions ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility. More than half of the NOA patients were idiopathic for their etiology, in whom it’s difficult to retrieve sperm despite the application of microsurgical testicular sperm extraction (microTESE). Therefore, we conducted to this study to identify the potential genetic factors responsible for NOA, and investigate the sperm retrieval rate of microTESE for the genetic defected NOA.Methods One NOA patient from a consanguineous family (F1-II-1) and fifty NOA patients from non-consanguineous families were included in the study. Semen analyses, chromosome karyotypes, screening of Y chromosome microdeletions, sex hormone testing, and subsequent testicular biopsy were performed to categorize NOA or obstructive azoospermia. Potentialgenetic variants were identified by whole exome sequencing (WES),and confirmed by Sanger sequencing in F1 II-1. The candidate genes were screened in the other fifty NOA patients. Further experiments including quantitative real time-polymerase chain reaction and western blotting were performed to verify the effects of gene variation on gene expression.Results Normal somatic karyotypes and Y chromosome microdeletions were examined in all patients. Hematoxylin and eosin staining (H&E) of the testicular tissues suggested meiotic arrest, and a novel homozygous HFM1 variant (c.3490C>T: p.Q1164X) was identified in F1 II-1. Furthermore, another homozygous HFM1 variant (c.3470G>A: p.C1157Y) was also verified in F2 II-1 from the fifty NOA patients. Significantly decreased expression levels of HFM1 mRNA and protein were observed in the testicular tissues of these two mutants compared with controls. MicroTESE was performed in these two patients, while no sperm were retrieved. Conclusions Our study identified two novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, even microTESE can not contribute to retrieve sperm in these patients.

scholarly journals Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis

2018 ◽  
Vol 15 (2) ◽  
pp. 351-357 ◽  
Author(s):  
Prafulla S. Ambulkar ◽  
Sunil S. Pande
Keyword(s):  
Multiplex Pcr ◽  
Y Chromosome ◽  
Pcr Analysis ◽  
Obstructive Azoospermia ◽  
Time Saving ◽  
Pcr Screening ◽  
Azoospermia Factor ◽  
Sts Markers ◽  
Y Chromosome Microdeletions ◽  
Severe Impairment

The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.

Evaluation of Breast Lumps by Ultrasound and Correlation with Histological Findings

2020 ◽  
Vol 23 (1) ◽  
pp. 10-12
Author(s):  
Nelema Jahan ◽  
Md. Mamunur Rahman ◽  
Mohammad Shahidul Alam ◽  
Md Saiful Islam
Keyword(s):  
Histopathological Examination ◽  
Breast Diseases ◽  
Histopathological Study ◽  
Common Symptom ◽  
Breast Lump ◽  
Histopathological Findings ◽  
Malignant Breast ◽  
Breast Lumps ◽  
One Year ◽  
A Prospective Study

Background: A breast lump is the most common symptom associated with both benign and malignant breast diseases. Therefore, a distinction of benign from malignant lump is of importance for proper management. Though a definitive diagnosis is possible with imaging for all the lesions, histopathological study is proven essential for confirming the diagnosis. Objective: The objective of this study was to evaluate the role of USG and histopathological findings of different breast lump in diagnosis and their comparison. Methods: A prospective study was conducted over a period of one year from January 2017 to December 2017. A total of 116 patients were included in this study. All breast lumps underwent surgery and the ultrasound findings of these lumps were compared with the histopathological findings. Data were collected from these patients by a preformed questionnaire and finally the data were analyzed. Results: Out of 116 patients only 21 cases were reported as malignant in ultrasound report but histopathology revealed 31 malignant patients. On histopathological examination 10 benign cases turned out to be malignant. Conclusion: The present study was undertaken to evaluate in diagnosing breast mass lesions individually by ultrasound and compared with histopathology for definitive management of a patient. Journal of Surgical Sciences (2019) Vol. 23 (1) : 10-12

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 Cellular Therapy via Spermatogonial Stem Cells for Treating Impaired Spermatogenesis, Non-Obstructive Azoospermia

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1779
Author(s):  
Nesma E. Abdelaal ◽  
Bereket Molla Tanga ◽  
Mai Abdelgawad ◽  
Sahar Allam ◽  
Mostafa Fathi ◽  
...  
Keyword(s):  
Stem Cells ◽  
Male Infertility ◽  
Cellular Therapy ◽  
Antihypertensive Drugs ◽  
Testicular Biopsy ◽  
Testicular Tissue ◽  
Spermatogonial Stem Cells ◽  
Obstructive Azoospermia ◽  
Promising Alternative ◽  
Major Health Problem

Male infertility is a major health problem affecting about 8–12% of couples worldwide. Spermatogenesis starts in the early fetus and completes after puberty, passing through different stages. Male infertility can result from primary or congenital, acquired, or idiopathic causes. The absence of sperm in semen, or azoospermia, results from non-obstructive causes (pretesticular and testicular), and post-testicular obstructive causes. Several medications such as antihypertensive drugs, antidepressants, chemotherapy, and radiotherapy could lead to impaired spermatogenesis and lead to a non-obstructive azoospermia. Spermatogonial stem cells (SSCs) are the basis for spermatogenesis and fertility in men. SSCs are characterized by their capacity to maintain the self-renewal process and differentiation into spermatozoa throughout the male reproductive life and transmit genetic information to the next generation. SSCs originate from gonocytes in the postnatal testis, which originate from long-lived primordial germ cells during embryonic development. The treatment of infertility in males has a poor prognosis. However, SSCs are viewed as a promising alternative for the regeneration of the impaired or damaged spermatogenesis. SSC transplantation is a promising technique for male infertility treatment and restoration of spermatogenesis in the case of degenerative diseases such as cancer, radiotherapy, and chemotherapy. The process involves isolation of SSCs and cryopreservation from a testicular biopsy before starting cancer treatment, followed by intra-testicular stem cell transplantation. In general, treatment for male infertility, even with SSC transplantation, still has several obstacles. The efficiency of cryopreservation, exclusion of malignant cells contamination in cancer patients, and socio-cultural attitudes remain major challenges to the wider application of SSCs as alternatives. Furthermore, there are limitations in experience and knowledge regarding cryopreservation of SSCs. However, the level of infrastructure or availability of regulatory approval to process and preserve testicular tissue makes them tangible and accurate therapy options for male infertility caused by non-obstructive azoospermia, though in their infancy, at least to date.

Decreased expression of DNA methyltransferases in the testes of patients with non-obstructive azoospermia leads to changes in global DNA methylation levels

2019 ◽  
Vol 31 (8) ◽  
pp. 1386 ◽  
Author(s):  
Fatma Uysal ◽  
Gokhan Akkoyunlu ◽  
Saffet Ozturk
Keyword(s):  
Dna Methylation ◽  
Male Infertility ◽  
De Novo ◽  
Biological Effects ◽  
Testicular Biopsy ◽  
Round Spermatid ◽  
Dna Methyltransferases ◽  
Global Dna Methylation ◽  
Obstructive Azoospermia ◽  
Spermatogenic Cells

DNA methylation plays key roles in epigenetic regulation during mammalian spermatogenesis. DNA methyltransferases (DNMTs) function in de novo and maintenance methylation processes by adding a methyl group to the fifth carbon atom of the cytosine residues within cytosine–phosphate–guanine (CpG) and non-CpG dinucleotide sites. Azoospermia is one of the main causes of male infertility, and is classified as obstructive (OA) or non-obstructive (NOA) azoospermia based on histopathological characteristics. The molecular background of NOA is still largely unknown. DNA methylation performed by DNMTs is implicated in the transcriptional regulation of spermatogenesis-related genes. The aim of the present study was to evaluate the cellular localisation and expression levels of the DNMT1, DNMT3A and DNMT3B proteins, as well as global DNA methylation profiles in testicular biopsy samples obtained from men with various types of NOA, including hypospermatogenesis (hyposperm), round spermatid (RS) arrest, spermatocyte (SC) arrest and Sertoli cell-only (SCO) syndrome. In the testicular biopsy samples, DNMT1 expression and global DNA methylation levels decreased gradually from the hyposperm to SCO groups (P<0.05). DNMT3A expression was significantly decreased in the RS arrest, SC arrest and SCO groups compared with the hyposperm group (P<0.05). DNMT3B expression was significantly lower in the RS arrest and SCO groups than in the hyposperm group (P<0.05). Although both DNMT1 and DNMT3A were localised in the cytoplasm and nucleus of the spermatogenic cells, staining for DNMT3B was more intensive in the nucleus of spermatogenic cells. In conclusion, the findings suggest that significant changes in DNMT expression and global DNA methylation levels in spermatogenic cells may contribute to development of male infertility in the NOA groups. Further studies are needed to determine the molecular biological effects of the altered DNMT expression and DNA methylation levels on development of male infertility.

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