• 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • None of the men with an AZF microdeletion had a sperm concentration of >0.5 million/mL. (bvsalud.org)