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Assessment and Diagnosis of the Male Infertility Patient
Published in Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh, Male Infertility in Reproductive Medicine, 2019
Muhannad M. Alsyouf, Cayde Ritchie, David Kim, Edmund Ko
The Y chromosome is essential for spermatogenesis and testicular development [2]. Y-chromosome microdeletions have been associated with spermatogenic impairment with the severity of which is related to the location of involvement. The most common Y-chromosome region that is related to infertility is the azoospermia factor locus (AZF) that contains subregions controlling different steps of spermatogenesis known as AZFa, AZFb, and AZFc. AZF microdeletions represent the most frequent molecular genetic cause of azoospermia and severe oligoozospermia [33]. Microdeletions involving AZFa and AZFb are associated with germ cell aplasia and arrested maturation, and attempts at sperm retrieval are not recommended in patients harboring these deletions because there is no chance of finding testicular sperm [34,35]. In microdeletions involving the AZFc region, sperm extraction yields a 71%–80% success rate [36].
Sex Chromosome Anomalies
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
L. Hamerton John, A. Evans Jane
In summary, the original description of the Klinefelter phenotype fits only a relatively small proportion of those with a 47,XXY karyotype. The majority of patients will, however, have low testicular volume with specific histology, azoospermia, and elevated gonadotrophins. A proportion will have gynecomastia. Individuals with Klinefelter syndrome may have learning difficulties, require special help in school and have a slightly lower IQ than their peers. However, most will lead normal adult lives, marry and have children through donor insemination. Boys with a supportive and understanding family background are likely to do better than those living in a less structured environment. With the advent of assisted reproductive technologies such as ICSI, patients who produce a few sperm may be able to father children. Patients suspected on clinical grounds to have Klinefelter syndrome, but who prove to be 46,XY, require further evaluation of their male infertility. In appropriate cases, this could include additional cytogenetic studies to rule out mosaicism or Y-chromosome microdeletions.
Genetic Testing of Y-Chromosome Microdeletion
Published in Nicolás Garrido, Rocio Rivera, A Practical Guide to Sperm Analysis, 2017
Jason C. Chandrapal, James M. Hotaling
Most Y-chromosome microdeletions occur spontaneously as a result of incorrect nonhomologous recombination and are considered part of male infertility testing in men with nonobstructive azoospermia or severe oligozoospermia. Exact deletion identification is important because specific microdeletion sequences have prognostic value resulting in different clinical management. Apart from guiding clinical decision making, these tests can help manage fertility expectations of couples seeking help. Prior to pursuing genetic infertility testing, all patients must be informed of the possible outcomes and how these results can change their fertility options as well as impact their future offspring.
Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men
Published in Systems Biology in Reproductive Medicine, 2020
Mostafa Akbarzadeh Khiavi, Akbar Jalili, Azam Safary, Ziba Gharedaghchi, Seyed Kazem Mirinezhad, Amir Mehdizadeh, Seyyed Ali Rahmani
Y chromosome microdeletions with the frequency of 2% to 50% (Balkan et al. 2008; Malekasgar and Mombaini 2008; Saliminejad et al. 2012) are the second cause of male infertility after the Klinefelter syndrome, leading to spermatogenesis defects (Gholami et al. 2017). Ethnic and regional factors have been considered as the main parameters affecting diversity and prevalence of these microdeletions (Colaco and Modi 2018). In addition, phenotype heterogeneity of AZF microdeletions and gene expression alterations can be due to the environmental effects including genetic modifications, variable penetrance, and the presence of autosomal homologs such as DAZ (Deleted in Azoospermia) like autosomal on 3p25 (DAZLA) (Van Gompel and Xu 2011). During the past decade, different studies have been performed on Y chromosome microdeletions. The results are indicative of the higher frequency of these microdeletions in the AZFc region with a frequency of 60% in infertile men (Sabbaghian et al. 2018). The AZFc microdeletions are the most frequent type of deletion pattern reported among 4% to 87% in the worldwide (Kilic et al. 2009; Omrani et al. 2009; Totonchi et al. 2012).
Clinical aspects of infertile 47,XYY patients: a retrospective study
Published in Human Fertility, 2019
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
There are few studies on 47,XYY case series (Abdel‐Razic et al., 2012; Chandley et al., 1976; El-Dahtory & Elsheikha, 2009) and our report is the largest such series reported on men with 47,XYY infertility and the first retrospective report of Iranian 47,XYY men. In this study, 38 cases of infertile men referred to the Royan Institute due to infertility problems were studied. Cytogenetic analysis using GTG-banding techniques revealed that the karyotype of 24 of these cases was 47,XYY and that 47,XYY patients may present with spermatogenesis impairment (40.74% azoospermia and 51.85% oligozoospermia). Since Y chromosome microdeletions can result in semen abnormalities (El-Dahtory & Elsheikha, 2009), these microdeletions were checked for in our patients, none of whom showed any microdeletions.
Sperm DNA damage and its impact on male reproductive health: a critical review for clinicians, reproductive professionals and researchers
Published in Expert Review of Molecular Diagnostics, 2019
Ashok Agarwal, Manesh Kumar Panner Selvam, Saradha Baskaran, Chak-Lam Cho
DNA damage is noticed in the germ cells during late spermatogenesis due to dysfunctional DNA repair system [18]. Both the nuclear and mitochondrial DNA of the spermatozoa are susceptible to damage. Oxidative stress (OS), as a result of high reactive oxygen species (ROS) generation, attacks both the nuclear and mitochondrial DNA [18]. In general, the sperm DNA damage is classified as (a) DNA fragmentation, (b) mitochondrial DNA damage, (c) telomere attrition, (d) Y chromosome microdeletions, and (e) epigenetic abnormalities (Figure 1).