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      New insights into the genetic basis of infertility

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          Abstract

          Infertility is a disease of the reproductive system characterized by inability to achieve pregnancy after 12 or more months of regular unprotected sexual intercourse. A variety of factors, including ovulation defects, spermatogenic failure, parental age, obesity, and infections have been linked with infertility, in addition to specific karyotypes and genotypes. The study of genes associated with infertility in rodent models has expanded the field of translational genetics in identifying the underlying cause of human infertility problems. Many intriguing aspects of the molecular basis of infertility in humans remain poorly understood; however, application of genetic knowledge in this field looks promising. The growing literature on the genetics of human infertility disorders deserves attention and a critical concise summary is required. This paper provides information obtained from a systematic analysis of the literature related to current research into the genetics of infertility affecting both sexes.

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          The biology of infertility: research advances and clinical challenges.

          Martin Matzuk, Dolores Lamb (2008)
          Reproduction is required for the survival of all mammalian species, and thousands of essential 'sex' genes are conserved through evolution. Basic research helps to define these genes and the mechanisms responsible for the development, function and regulation of the male and female reproductive systems. However, many infertile couples continue to be labeled with the diagnosis of idiopathic infertility or given descriptive diagnoses that do not provide a cause for their defect. For other individuals with a known etiology, effective cures are lacking, although their infertility is often bypassed with assisted reproductive technologies (ART), some accompanied by safety or ethical concerns. Certainly, progress in the field of reproduction has been realized in the twenty-first century with advances in the understanding of the regulation of fertility, with the production of over 400 mutant mouse models with a reproductive phenotype and with the promise of regenerative gonadal stem cells. Indeed, the past six years have witnessed a virtual explosion in the identification of gene mutations or polymorphisms that cause or are linked to human infertility. Translation of these findings to the clinic remains slow, however, as do new methods to diagnose and treat infertile couples. Additionally, new approaches to contraception remain elusive. Nevertheless, the basic and clinical advances in the understanding of the molecular controls of reproduction are impressive and will ultimately improve patient care.
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            Infertility and the provision of infertility medical services in developing countries

            Willem Ombelet, Ian Cooke, Silke Dyer … (2008)
            BACKGROUND Worldwide more than 70 million couples suffer from infertility, the majority being residents of developing countries. Negative consequences of childlessness are experienced to a greater degree in developing countries when compared with Western societies. Bilateral tubal occlusion due to sexually transmitted diseases and pregnancy-related infections is the most common cause of infertility in developing countries, a condition that is potentially treatable with assisted reproductive technologies (ART). New reproductive technologies are either unavailable or very costly in developing countries. This review provides a comprehensive survey of all important papers on the issue of infertility in developing countries. METHODS Medline, PubMed, Excerpta Medica and EMBASE searches identified relevant papers published between 1978 and 2007 and the keywords used were the combinations of ‘affordable, assisted reproduction, ART, developing countries, health services, infertility, IVF, simplified methods, traditional health care'. RESULTS The exact prevalence of infertility in developing countries is unknown due to a lack of registration and well-performed studies. On the other hand, the implementation of appropriate infertility treatment is currently not a main goal for most international non-profit organizations. Keystones in the successful implementation of infertility care in low-resource settings include simplification of diagnostic and ART procedures, minimizing the complication rate of interventions, providing training-courses for health-care workers and incorporating infertility treatment into sexual and reproductive health-care programmes. CONCLUSIONS Although recognizing the importance of education and prevention, we believe that for the reasons of social justice, infertility treatment in developing countries requires greater attention at National and International levels.
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              Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

              L Tiepolo, O Zuffardi (1976)
              A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluoresecent segment of the long arm of the Y, factors are located controlling spermatogenesis.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Appl Clin Genet
                Journal ID (iso-abbrev): Appl Clin Genet
                Journal ID (publisher-id): The Application of Clinical Genetics
                Title: The Application of Clinical Genetics
                Publisher: Dove Medical Press
                ISSN (Electronic): 1178-704X
                Publication date Collection: 2014
                Publication date (Electronic): 01 December 2014
                Volume: 7
                Pages: 235-243
                Affiliations
                [1 ]Institute for Stem Cell Biology and Regenerative Medicine, National Centre for Biological Sciences, Bangalore, India
                [2 ]Centre for Biomedical Research, VIT University, Vellore, India
                [3 ]University of Tokushima, Institute of Health Bioscience, Department of Public Health and Nutrition, Tokushima, Japan
                Author notes
                Correspondence: Padmanaban S Suresh, Centre for Biomedical Research, Vellore Institute of Technology, VIT University, Vellore 632 014, Tamil Nadu, India, Tel 91 96 7734 2401, Email surepadman@ 123456rediffmail.com
                Article
                Publisher ID: tacg-7-235
                DOI: 10.2147/TACG.S40809
                PMC ID: 4259396
                PubMed ID: 25506236
                SO-VID: 39abbe59-064f-4267-af38-ba04a83c9a01
                Copyright © © 2014 Venkatesh et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License
                License:

                The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

                History
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                Subject: Review

                Keywords: infertility,genetics,polycystic ovary syndrome,premature ovarian failure,spermatogenic failure,cystic fibrosis
                Data availability:
                Keywords: infertility, genetics, polycystic ovary syndrome, premature ovarian failure, spermatogenic failure, cystic fibrosis

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