Chromosome microdeletionObstructive azoospermiaAZFcInfertilityOligospermiaInfertileTesticularOligozoospermia or azoospermiaKaryotypeGeneticAZFaDeletionsGenesDeleted azoospermia factorNonobstructiveChromosomalAbsenceFactorMethodsEjaculateGeneIdiopathicPrevalenceAbnormalityDeficiencySeminalMaleSpermatogenicPatientsCasesProcedureConcentration
Chromosome microdeletion9
- Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India. (physiciansweekly.com)
- Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
- evaluate the current evidence regarding different aspects (Epidemiological, histological, physiological and genetic) of male infertility caused by Y-chromosome microdeletion. (imed.pub)
- Surveys also show changes in the male hormone physiology varying the levels of testosterone/LH/FSH as well as modifying the gonadal morphology in individuals affected by Y-chromosome microdeletion. (imed.pub)
- Y chromosome microdeletion was not detected in the patient. (istanbul.edu.tr)
- A Y chromosome microdeletion analysis can be used to check if the Y chromosome is whole or if it has any kind of information loss. (ibbiotech.com)
- A Y chromosome microdeletion analysis consists of studying certain regions of the Y chromosome. (ibbiotech.com)
- When is a Y chromosome microdeletion analysis advisable? (ibbiotech.com)
- By drawing a blood sample we will also run a male hormone study, genetic study (karyotype, Y chromosome microdeletion, cystic fibrosis …) and a physical examination of his genitals. (fertilityclinicspain.com)
Obstructive azoospermia21
- It will be included only man with non-obstructive azoospermia (confirmed by at least two sperm counts). (fapesp.br)
- Seminal vesicle malformations are a rare cause of obstructive azoospermia, often associated with other internal genitalia and upper urinary tract birth defects. (cuaj.ca)
- What is Non-Obstructive Azoospermia? (jananamfertility.com)
- It is divided into roughly 60% Non-obstructive Azoospermia (NOA) cases and 40% Obstructive Azoospermia cases (OA).Non-Obstructive Azoospermia (NOA) is a medical disorder in which spermatogenesis fails and a man is unable to make sperm. (jananamfertility.com)
- Why does Non-Obstructive Azoospermia (NOA) occur? (jananamfertility.com)
- Non-Obstructive Azoospermia is a condition in which a male is unable to produce sperm. (jananamfertility.com)
- This absence of sperm may occur if the testicles do not secrete spermatozoids (non-obstructive azoospermia), or if the testicles do produce sperm but none are present in the ejaculate due to an obstruction (obstructive azoospermia). (fertilityclinicspain.com)
- Obstructive azoospermia is the absence of spermatozoids in semen due to a defect in the seminiferous tubules or vas deferens, thus preventing the sperm from exiting the body as part of the ejaculate. (fertilityclinicspain.com)
- Non‐obstructive azoospermia is more serious, as it involves a defect in the process of sperm cell formation (spermatogenesis). (fertilityclinicspain.com)
- Non‐obstructive azoospermia may be congenital (present at birth), or acquired at a certain point in time during the male's life (testicular trauma, hormonal imbalance, illnesses such as the mumps and meningitis, radiotherapy and chemotherapy, use of certain medications or drugs, etc. (fertilityclinicspain.com)
- Additionally, with non‐obstructive azoospermia the absence of sperm production in the testicles may be total and absolute, partial or focal . (fertilityclinicspain.com)
- With complete non‐obstructive azoospermia, the only possible treatment to achieve fatherhood is to use spermatozoids from a sperm donor bank . (fertilityclinicspain.com)
- Still, 10-20% cases of infertility fail to identify exact cause of male infertility and are fall in the category of unexplained cause of infertility in non obstructive azoospermia. (journalcra.com)
- Material and Methods: Blood samples were collected from the cases of clinically diagnosed non obstructive azoospermia (NOA) with respective controls. (journalcra.com)
- This condition is called obstructive azoospermia. (brukseltupbebek.com)
- Occlusion in any area along this pathway leads to obstructive azoospermia. (brukseltupbebek.com)
- If the absence of sperm in the semen is due to the lack of production or less production than normal in the seminiferous tubules, this is called non-obstructive azoospermia. (brukseltupbebek.com)
- Klinefelter syndrome is the most common genetic cause of non-obstructive azoospermia. (andrologyawareness.eu)
- Non-obstructive azoospermia is the situation where no sperm is found in the ejaculate, and where this is not due to an obstruction of the ways leading the sperm from the testes to the tip of the urethra. (andrologyawareness.eu)
- The most frequent genetic form of obstructive azoospermia is caused by mutations in the CFTR gene. (andrologyawareness.eu)
- Obstructive azoospermia is the situation where the transport of the sperm cells away from the testes, through the epididymis and via the vas deferens and ejaculatory ducts and the urethra is blocked, resulting in no sperm cells in the ejaculate. (andrologyawareness.eu)
AZFc7
- The surgical sperm retrieval (SSR) rate after microdissection testicular sperm extraction was 33.2% in men with AZFc microdeletion. (bvsalud.org)
- These regions are termed as azoospermia factor (AZF): AZFa, AZFb i AZFc. (cloudhealthlabs.com)
- Men with microdeletions affecting the Y chromosome, particularly in the AZFc (azoospermia factor c) region, can develop oligozoospermia via various mechanisms, depending on the specific deletion. (msdmanuals.com)
- The literature indicates that deletion of AZF, especially AZFc, is related to azoospermia, oligozoospermia or even infertility. (imed.pub)
- If a presence of Y chromosome microdeletions is confirmed, it is also important to understand which region has the deletion (AZFa, AZFb or AZFc) or if there is a combination of them. (ibbiotech.com)
- Men with AZFc microdeletion can have spermatozoa in their semen sample. (andrologylab.gr)
- AZFc microdeletion occurs in 6% of men with low sperm quality. (andrologylab.gr)
Infertility5
- Presence of microdeletions can cause different disorders such as infertility, genetic diseases, neuropsychiatric disorders and testicular cancer. (cloudhealthlabs.com)
- The purpose of this work is three-fold: (1) to examine whether MMR gene polymorphisms are associated with increased risk of azoospermia or oligozoospermia, (2) to ascertain whether genetic variants in MMR genes result in sperm DNA damage and, thereby, increase male infertility, and (3) to investigate the biological activity of the significant functional variants. (biomedcentral.com)
- In this article we want to tell you how we diagnose each of these types of azoospermia in assisted reproduction clinics, as well as what treatments exist in order to achieve a pregnancy and prevent this male infertility issue . (fertilityclinicspain.com)
- The rationale behind the present study to understand the genetic basis of male infertility, to identify the "novel gene mutation" and also asses the frequency (%) of microdeletion of Y-chromosome i.e. deletion of AZF regions interfare during spermatogenesis. (journalcra.com)
- The three most common genetic causes of male infertility are Klinefelter syndrome, microdeletions of the Y chromosome, and mutation in the CTFR gene. (andrologyawareness.eu)
Oligospermia4
- Infertile men may have deficiencies in sperm formation, concentration (eg, oligospermia [too few sperm], azoospermia [no sperm in the ejaculate]), or transportation. (medscape.com)
- An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. (medlineplus.gov)
- This condition accounts for about 13 percent of cases of azoospermia and 5 percent of severe oligospermia. (medlineplus.gov)
- They identified 149 patients with nonobstructive azoospermia and 32 patients with severe oligospermia (sperm density less than 10,000 per mL). (urologytimes.com)
Infertile2
- Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)
- AVL-292 Overall SCAs occur in nearly 5% in infertile men (0.5% in the general AVL-292 population) [11 12 17 Most frequently SCAs are found in patients with azoospermia and oligozoospermia. (biobender.com)
Testicular5
- Testosterone level, luteinising hormone level and testicular volume did not predict the presence of a microdeletion. (bvsalud.org)
- In azoospermia, no sperm are present.To determine the causes and establish a treatment plan, additional investigations such hormone tests, chromosomal analysis (Karyotype and Yq microdeletions), and testicular ultrasonography are helpful. (jananamfertility.com)
- With this type of azoospermia, testicular functioning and production is normal . (fertilityclinicspain.com)
- Each of the patient groups was analyzed for serum FSH concentration, testicular volume, chromosomal abnormalities (including karyotype abnormalities and Y-chromosome microdeletions), and the presence of sperm during testicular mapping. (urologytimes.com)
- Abnormalities of the sperm production can be due to testicular failure (Y chromosome microdeletions or Klinefelter's syndrome), damage to the testes, toxins, radiation, infections, insufficient hormone production from the pituitary gland (FSH and LH) and use of androgenic compounds such as testosterone. (conceptionsrepro.com)
Oligozoospermia or azoospermia3
- Offspring of men with severe oligozoospermia or azoospermia have a significantly increased risk of developing cystic fibrosis. (genosalut.com)
- In patients with oligozoospermia or azoospermia, it also provides us with information on the progress of this failure in sperm production. (ibbiotech.com)
- While semen analyses of 47 XYY males frequently indicate oligozoospermia or azoospermia the majority of them are fertile with normal semen parameters [16]. (biobender.com)
Karyotype2
- Genetic study showed in all cases a 46 XY karyotype without any microdeletions. (cuaj.ca)
- i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)
Genetic6
- To also determine predictive factors and a clinical threshold for genetic testing in men with Y chromosome microdeletions. (bvsalud.org)
- Genetic analysis has pinpointed 3 regions of Yq chromosome that are microdeletion hotspots. (cloudhealthlabs.com)
- The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. (blogspot.com)
- Y chromosome microdeletions are a class of most likely genetic factors that occur in a special zone of Y chromosome which is named azoospermia factor region. (virascience.com)
- Since the abnormality affects a chromosome, patients who have Y chromosome microdeletions need to be given appropriate genetic guidance. (ibbiotech.com)
- As a result of hormonal and genetic tests, the type and cause of azoospermia are tried to be understood. (brukseltupbebek.com)
AZFa1
- Men with microdeletions at the AZFa or AZFb locus always have azoospermia - a condition in which there are no spermatozoa in the semen sample. (andrologylab.gr)
Deletions1
- Results: With due attention to the data resulted from multiplex polymerase chain reaction and agarose gel electrophoresis in order to recognize Y chromosome micro deletions in azoospermia factor region, in this work, all the bands related to the mentioned primers which were formed during the polymerase chain reaction, were detected on the gel obviously. (virascience.com)
Genes3
- Abnormal spermatogenesis in men with Y-chromosome microdeletions suggests that genes important for spermatogenesis have been removed from these individuals. (bioone.org)
- DAZ (Deleted in Azoospermia) family genes are important fertility factors in many animals including humans. (ijbs.com)
- Most of these genes are in areas of the Y chromosome called the AZF (azoospermia factor) regions. (andrologyawareness.eu)
Deleted azoospermia factor1
- VCY2 is a testis-specific gene that locates in the most frequently deleted azoospermia factor c region in the Y chromosome. (bioone.org)
Nonobstructive3
- Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. (istanbul.edu.tr)
- Recent data from Cornell University showed that men with MA who had normal FSH levels had a lower sperm retrieval rate, lower fertilization rate, and lower pregnancy rate compared to other men with nonobstructive azoospermia. (urologytimes.com)
- Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia. (cdc.gov)
Chromosomal4
- This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). (wikipedia.org)
- Therefore, the objective of this study will be to verify if there are clinical and laboratory differences between men with azoospermia diagnosed with DSD or chromosomal aberration in relation to those without DSD or without chromosomal aberration. (fapesp.br)
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. (blogspot.com)
- Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. (blogspot.com)
Absence5
- An absence of a region, however, means that the patient is a carrier of microdeletions in the Y chromosome. (ibbiotech.com)
- It is mainly prescribed for patients with oligozoospermia (under 5 million per ml in the sperm count) or azoospermia (a total absence of spermatozoa in ejaculate). (ibbiotech.com)
- In the case of patients with azoospermia (an absence of spermatozoa in ejaculate), it is also key to understanding the likelihood of finding spermatozoa in the testes and, in turn, the chances of having biological offspring. (ibbiotech.com)
- Azoospermia is a semen abnormality characterised by the total absence of spermatozoids in the ejaculate . (fertilityclinicspain.com)
- If abnormal, it should be repeated for confirmation of the abnormal parameters and in the absence of sperm (azoospermia), urological evaluation is recommended. (conceptionsrepro.com)
Factor1
- sY127, sY134, sY129, for azoospermia factor b and sY254, sY255, for azoospermia factor c were used to screen complete microdeletions in Y chromosome. (virascience.com)
Methods1
- Methods: In the present study, Y chromosome microdeletions were evaluated in ninety-two male partners of couples with the experience of recurrent pregnancy loss as the patient group and also a group containing fifty fertile males as the control group. (virascience.com)
Ejaculate1
- The lack of sperm cells in the ejaculate is known as azoospermia. (jananamfertility.com)
Gene1
- Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene. (wikipedia.org)
Idiopathic1
- The purpose of this study was to analyze the presence of Y chromosome complete microdeletions in male partner of couples suffering from idiopathic recurrent pregnancy loss among Iranian population. (virascience.com)
Prevalence2
- OBJECTIVE: To describe the prevalence of Y-chromosome microdeletions in a multi-ethnic urban population in London, UK. (bvsalud.org)
- RESULTS: The prevalence of microdeletions was 4% (n = 58) in this study. (bvsalud.org)
Abnormality1
- Furthermore, all sons of patients with Y chromosome microdeletions will inherit the abnormality. (ibbiotech.com)
Deficiency1
- 10-15% of men with azoospermia have this deficiency. (andrologylab.gr)
Seminal1
- We report 5 new cases of seminal vesicle agenesis in men presenting with hypospermia and azoospermia.Imaging showed seminal vesicle unilateral agenesis in all patients.The remaining seminal vesicle was hypoplastic in 3 cases, dilatedin 1 case and with abnormally thick content in another case. (cuaj.ca)
Male1
- An analysis of the patient's male siblings is advisable in order to find out if they are carriers of the microdeletion or not and if they will also have fertility issues. (ibbiotech.com)
Spermatogenic1
- and human spermatogenic stem cell culture to treat azoospermia, and to preserve fertility in pre-pubertal boys undergoing cancer treatment. (infertile.com)
Patients2
- Patients with microdeletions are advised to store sperm in order to preserve their fertility because there is a chance that the failure in sperm production will progress. (ibbiotech.com)
- Microdeletions in the Y chromosome were far more common and varied by MA classification: 36.8% in EMA, 15.6% in LMA, 23.5% in mixed MA, and 2.1% in all other patients ( p =.0001). (urologytimes.com)
Cases2
- And, of these cases, 15% have azoospermia . (fertilityclinicspain.com)
- This type of azoospermia is the most common, representing 70% of azoospermia cases. (fertilityclinicspain.com)
Procedure1
- What is the procedure if Y chromosome microdeletions are identified? (ibbiotech.com)
Concentration1
- None of the men with an AZF microdeletion had a sperm concentration of >0.5 million/mL. (bvsalud.org)