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      An update on the clinical assessment of the infertile male

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          Abstract

          Male infertility is directly or indirectly responsible for 60% of cases involving reproductive-age couples with fertility-related issues. Nevertheless, the evaluation of male infertility is often underestimated or postponed. A coordinated evaluation of the infertile male using standardized procedures improves both diagnostic precision and the results of subsequent management in terms of effectiveness, risk and costs. Recent advances in assisted reproductive techniques (ART) have made it possible to identify and overcome previously untreatable causes of male infertility. To properly utilize the available techniques and improve clinical results, it is of the utmost importance that patients are adequately diagnosed and evaluated. Ideally, this initial assessment should also be affordable and accessible. We describe the main aspects of male infertility evaluation in a practical manner to provide information on the judicious use of available diagnostic tools and to better determine the etiology of the most adequate treatment for the existing condition.

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          Most cited references147

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          Varicocele size and results of varicocelectomy in selected subfertile men with varicocele.

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            Do sperm DNA integrity tests predict pregnancy with in vitro fertilization?

            To evaluate the predictive value of sperm DNA integrity tests for pregnancy from in vitro fertilization treatment. Systematic review and meta-analysis. Studies from infertility centers. Infertile couples undergoing in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) treatment. Sperm DNA integrity tests before IVF and ICSI cycles. Diagnostic test properties for sperm DNA integrity tests with reference to pregnancy after IVF or ICSI treatment. Among 22 relevant studies, 2 x 2 tables were constructed from 13 studies involving 18 estimates of the diagnostic test properties of sperm DNA integrity tests in 2162 cycles of treatment. The sum of sensitivity and specificity ranged from 0.83 to 1.59. In six of 18 estimates abnormal DNA integrity was associated with a higher than expected pregnancy rate. The summary diagnostic odds ratio was 1.44 (95% CI, 1.03, 2.03), but the summary likelihood ratios (LR) were not predictive of pregnancy outcome (LR+ = 1.23; 95% CI, 0.98, 1.54; LR- = 0.81; 95% CI, 0.67, 0.98). Neither sperm chromatin structure assay nor terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate-biotin nick end labeling assay tests were more predictive of pregnancy outcome after IVF/ICSI, and DNA integrity testing was not more predictive for IVF than ICSI. The small but statistically significant association between sperm DNA integrity test results and pregnancy in IVF and ICSI cycles is not strong enough to provide a clinical indication for routine use of these tests in infertility evaluation of men. It is possible that yet to be determined subgroups of infertile couples may benefit from sperm DNA integrity testing.
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              Y chromosome microdeletions and alterations of spermatogenesis.

              Three different spermatogenesis loci have been mapped on the Y chromosome and named "azoospermia factors" (AZFa, b, and c). Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility. We have reviewed the literature and the most recent advances in Y chromosome mapping, focusing our attention on the correlation between Y chromosome microdeletions and alterations of spermatogenesis. More than 4,800 infertile patients were screened for Y microdeletions and published. Such deletions determine azoospermia more frequently than severe oligozoospermia and involve especially the AZFc region including the DAZ gene family. Overall, the prevalence of Y chromosome microdeletions is 4% in oligozoospermic patients, 14% in idiopathic severely oligozoospermic men, 11% in azoospermic men, and 18% in idiopathic azoospermic subjects. Patient selection criteria appear to substantially influence the prevalence of microdeletions. No clear correlation exists between the size and localization of the deletions and the testicular phenotype. However, it is clear that larger deletions are associated with the most severe testicular damage. Patients with Y chromosome deletions frequently have sperm either in the ejaculate or within the testis and are therefore suitable candidates for assisted reproduction techniques. This possibility raises a number of medical and ethical concerns, since the use of spermatozoa carrying Y chromosome deletions may produce pregnancies, but in such cases the genetic anomaly will invariably be passed on to male offspring.
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                Author and article information

                Journal
                Clinics (Sao Paulo)
                Clinics
                Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
                1807-5932
                1980-5322
                April 2011
                : 66
                : 4
                : 691-700
                Affiliations
                [I ]ANDROFERT Andrology Human Reproduction Clinic, Campinas, Sã Paulo, Brazil.
                [II ]Cleveland Clinic, Ohio, United States.
                Author notes
                E-mail: s.esteves@ 123456androfert.com.br Tel.: 55 19 3295-8877
                Article
                cln_66p691
                10.1590/S1807-59322011000400026
                3093801
                21655766
                1cea57ba-1425-45f2-9c05-847af740cf55
                Copyright © 2011 Hospital das Clínicas da FMUSP

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 17 February 2011
                : 18 February 2011
                : 18 February 2011
                Page count
                Pages: 10
                Categories
                Invited Review

                Medicine
                review,semen analysis,infertility,male,diagnosis
                Medicine
                review, semen analysis, infertility, male, diagnosis

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