{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:35:42Z","timestamp":1791326142425,"version":"4.3.1"},"reference-count":82,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Asian J Androl"],"published-print":{"date-parts":[[2016]]},"DOI":"10.4103\/1008-682x.178857","type":"journal-article","created":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:31:40Z","timestamp":1458174700000},"page":"350","source":"Crossref","is-referenced-by-count":49,"title":["Recent advances in the genetics of testicular failure"],"prefix":"10.4103","volume":"18","author":[{"given":"DoloresJ","family":"Lamb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Hun","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Chiba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranjith","family":"Ramasamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"key-10.4103\/1008-682X.178857-1","first-page":"271","volume-title":"Male infertility: pathogenesis and clinical diagnosis","author":"Krausz","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"key-10.4103\/1008-682X.178857-2","first-page":"97","volume-title":"Azoospermia due to spermatogenic failure","author":"Berookhim","year":"2014","journal-title":"Urol Clin North Am"},{"key":"key-10.4103\/1008-682X.178857-3","first-page":"734","volume-title":"Male infertility: role of genetic background","author":"Ferlin","year":"2007","journal-title":"Reprod Biomed Online"},{"key":"key-10.4103\/1008-682X.178857-4","first-page":"315","volume-title":"Genetic susceptibility to male infertility: news from genome-wide association studies","author":"Aston","year":"2014","journal-title":"Andrology"},{"key":"key-10.4103\/1008-682X.178857-5","first-page":"1197","volume-title":"The biology of infertility: research advances and clinical challenges","author":"Matzuk","year":"2008","journal-title":"Nat Med"},{"key":"key-10.4103\/1008-682X.178857-6","first-page":"460","volume-title":"Risk of transmission of genetic diseases by assisted reproduction","author":"Lipshultz","year":"2007","journal-title":"Nat Clin Pract Urol"},{"key":"key-10.4103\/1008-682X.178857-7","first-page":"255","volume-title":"Trends in use of and reproductive outcomes associated with intracytoplasmic sperm injection","author":"Boulet","year":"2015","journal-title":"JAMA"},{"key":"key-10.4103\/1008-682X.178857-8","first-page":"217","volume-title":"Transmission of male infertility to future generations: lessons from the Y chromosome","author":"Silber","year":"2002","journal-title":"Hum Reprod Update"},{"key":"key-10.4103\/1008-682X.178857-9","first-page":"1","volume-title":"The genetic causes of male factor infertility: a review","author":"O\u2032Flynn","year":"2010","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-10","first-page":"40","volume-title":"Genetic causes of spermatogenic failure","author":"Massart","year":"2012","journal-title":"Asian J Androl"},{"key":"key-10.4103\/1008-682X.178857-11","first-page":"257","volume-title":"The genetic basis of male reproductive failure","author":"Oates","year":"2008","journal-title":"Urol Clin North Am"},{"key":"key-10.4103\/1008-682X.178857-12","first-page":"143","volume-title":"Genetic disorders and infertility","author":"Brugh","year":"2003","journal-title":"Urol Clin North Am"},{"key":"key-10.4103\/1008-682X.178857-13","first-page":"13","volume-title":"Genetic risk factors in infertile men with severe oligozoospermia and azoospermia","author":"Dohle","year":"2002","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-14","first-page":"429","volume-title":"The natural history of Klinefelter\u2032s syndrome","author":"Barr","year":"1966","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-15","first-page":"314","volume-title":"Klinefelter\u2032s syndrome.Clinical and laboratory findings in 50 patients","author":"Becker","year":"1966","journal-title":"Arch Intern Med"},{"key":"key-10.4103\/1008-682X.178857-16","first-page":"49","volume-title":"Clinical and diagnostic features of patients with suspected Klinefelter syndrome","author":"Oates","year":"2003","journal-title":"J Androl"},{"key":"key-10.4103\/1008-682X.178857-17","first-page":"42","volume-title":"Klinefelter syndrome and other sex chromosomal aneuploidies","author":"Visootsak","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"key-10.4103\/1008-682X.178857-18","first-page":"588","volume-title":"Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?","author":"Fullerton","year":"2010","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-19","first-page":"273","volume-title":"Klinefelter\u2032s syndrome","author":"Lanfranco","year":"2004","journal-title":"Lancet"},{"key":"key-10.4103\/1008-682X.178857-20","first-page":"20","volume-title":"Clinical review: Klinefelter syndrome - A clinical update","author":"Groth","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"key-10.4103\/1008-682X.178857-21","first-page":"359","volume-title":"A cytogenetic survey of 11,680 newborn infants","author":"Jacobs","year":"1974","journal-title":"Ann Hum Genet"},{"key":"key-10.4103\/1008-682X.178857-22","first-page":"304","volume-title":"From spermatocytes to spermatozoa in an infertile XYY male","author":"Rives","year":"2005","journal-title":"Int J Androl"},{"key":"key-10.4103\/1008-682X.178857-23","first-page":"28","volume-title":"Male infertility related to an aberrant karyotype, 47, XYY: four case reports","author":"El-Dahtory","year":"2009","journal-title":"Cases J"},{"key":"key-10.4103\/1008-682X.178857-24","first-page":"374","volume-title":"Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male","author":"Wong","year":"2008","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-25","first-page":"200","volume-title":"Nonmosaic 47, XYY syndrome presenting with male infertility: case series","author":"Abdel-Razic","year":"2012","journal-title":"Andrologia"},{"key":"key-10.4103\/1008-682X.178857-26","first-page":"416","volume-title":"Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man","author":"Speed","year":"1991","journal-title":"Hum Genet"},{"key":"key-10.4103\/1008-682X.178857-27","first-page":"71","volume-title":"Nature and origin of males with XX sex chromosomes","author":"de","year":"1972","journal-title":"Am J Hum Genet"},{"key":"key-10.4103\/1008-682X.178857-28","first-page":"341","volume-title":"SRY-negative 46, XX male with normal genitals, complete masculinization and infertility","author":"Rajender","year":"2006","journal-title":"Mol Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-29","first-page":"379","volume-title":"Cytogenetic determinants of male fertility","author":"Martin","year":"2008","journal-title":"Hum Reprod Update"},{"key":"key-10.4103\/1008-682X.178857-30","first-page":"1","volume-title":"Cytogenetics of infertile men","author":"Van","year":"1996","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-31","first-page":"677","volume-title":"Chromosomal alterations and male infertility","author":"Antonelli","year":"2000","journal-title":"J Endocrinol Invest"},{"key":"key-10.4103\/1008-682X.178857-32","first-page":"1301","volume-title":"Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss","author":"Ozawa","year":"2008","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-33","first-page":"168","volume-title":"Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations","author":"Ogilvie","year":"2001","journal-title":"Hum Fertil (Camb)"},{"key":"key-10.4103\/1008-682X.178857-34","first-page":"124","volume-title":"The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises","author":"Carrell","year":"2008","journal-title":"J Androl"},{"key":"key-10.4103\/1008-682X.178857-35","first-page":"739","volume-title":"Human chromosomedeletions in Yq11, AZF candidate genes and male infertility: history and update","author":"Vogt","year":"1998","journal-title":"Mol Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-36","first-page":"43","volume-title":"Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?","author":"Kleiman","year":"2012","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-37","first-page":"1431","volume-title":"Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?","author":"Krausz","year":"2000","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-38","first-page":"2655","volume-title":"Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man","author":"Longepied","year":"2010","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-39","first-page":"542","volume-title":"Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia","author":"Simoni","year":"1997","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-40","first-page":"1290","volume-title":"Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome","author":"Reijo","year":"1996","journal-title":"Lancet"},{"key":"key-10.4103\/1008-682X.178857-41","first-page":"119","volume-title":"Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm","author":"Tiepolo","year":"1976","journal-title":"Hum Genet"},{"key":"key-10.4103\/1008-682X.178857-42","first-page":"906","volume-title":"Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure","author":"Repping","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key-10.4103\/1008-682X.178857-43","first-page":"113","volume-title":"Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration","author":"Bachtrog","year":"2013","journal-title":"Nat Rev Genet"},{"key":"key-10.4103\/1008-682X.178857-44","first-page":"81","volume-title":"Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis","author":"Vogt","year":"2005","journal-title":"Reprod Biomed Online"},{"key":"key-10.4103\/1008-682X.178857-45","first-page":"376","volume-title":"An evolutionary perspective on Y chromosomal variation and male infertility","author":"Tyler-Smith","year":"2008","journal-title":"Int J Androl"},{"key":"key-10.4103\/1008-682X.178857-46","first-page":"795","volume-title":"AZFa deletions in Sertoli cell-only syndrome: a retrospective study","author":"Blagosklonova","year":"2000","journal-title":"Mol Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-47","first-page":"881","volume-title":"Spermatogenesis in a man with complete deletion of USP9Y","author":"Luddi","year":"2009","journal-title":"N Engl J Med"},{"key":"key-10.4103\/1008-682X.178857-48","first-page":"825","volume-title":"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes","author":"Skaletsky","year":"2003","journal-title":"Nature"},{"key":"key-10.4103\/1008-682X.178857-49","first-page":"328","volume-title":"The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis","author":"Elliott","year":"2004","journal-title":"Int J Androl"},{"key":"key-10.4103\/1008-682X.178857-50","first-page":"383","volume-title":"Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene","author":"Reijo","year":"1995","journal-title":"Nat Genet"},{"key":"key-10.4103\/1008-682X.178857-51","first-page":"141","volume-title":"No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men","author":"Lepretre","year":"2005","journal-title":"J Assist Reprod Genet"},{"key":"key-10.4103\/1008-682X.178857-52","first-page":"256","volume-title":"Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome","author":"Saxena","year":"2000","journal-title":"Genomics"},{"key":"key-10.4103\/1008-682X.178857-53","first-page":"1318","volume-title":"AZFc partial deletions in Chilean men with severe spermatogenic failure","author":"Lardone","year":"2007","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-54","first-page":"1845","volume-title":"Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: case report","author":"Calogero","year":"2001","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-55","first-page":"536","volume-title":"Natural course of severe oligozoospermia in infertile male: influence on future fertility potential","author":"Song","year":"2010","journal-title":"J Androl"},{"key":"key-10.4103\/1008-682X.178857-56","first-page":"349","volume-title":"Microdeletions within the azoospermia factor subregions of the Y chromosome in patients with idiopathic azoospermia","author":"Kim","year":"1999","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-57","first-page":"437","volume-title":"Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility","author":"Zhang","year":"2007","journal-title":"J Med Genet"},{"key":"key-10.4103\/1008-682X.178857-58","first-page":"1660","volume-title":"Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions","author":"Hopps","year":"2003","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-59","first-page":"762","volume-title":"Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy","author":"Ferlin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key-10.4103\/1008-682X.178857-60","first-page":"253","volume-title":"Y choromosomal microdeletion screening in the workup of male infertility and its current status in India","author":"Suganthi","year":"2014","journal-title":"Int J Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-61","first-page":"9","volume-title":"Prognostic value of Y deletion analysis: how reliable is the outcome of Y deletion analysis in providing a sound prognosis?","author":"Liow","year":"2001","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-62","first-page":"5","volume-title":"EAA\/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013","author":"Krausz","year":"2014","journal-title":"Andrology"},{"key":"key-10.4103\/1008-682X.178857-63","first-page":"569","volume-title":"The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism","author":"Bianco","year":"2009","journal-title":"Nat Rev Endocrinol"},{"key":"key-10.4103\/1008-682X.178857-64","first-page":"272","volume-title":"The genetics of hypogonadotropic hypogonadism","author":"Bhagavath","year":"2007","journal-title":"Semin Reprod Med"},{"key":"key-10.4103\/1008-682X.178857-65","first-page":"138","volume-title":"Hypopituitarism oddities: congenital causes","author":"Kelberman","year":"2007","journal-title":"Horm Res"},{"key":"key-10.4103\/1008-682X.178857-66","first-page":"495","volume-title":"Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations","author":"Wu","year":"1999","journal-title":"Arch Med Res"},{"key":"key-10.4103\/1008-682X.178857-67","first-page":"25","volume-title":"CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis","author":"Yu","year":"2012","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-68","first-page":"1","volume-title":"The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis","author":"Oates","year":"1994","journal-title":"J Androl"},{"key":"key-10.4103\/1008-682X.178857-69","first-page":"1919","volume-title":"Lung disease associated with the IVS8 5T allele of the CFTR gene","author":"Noone","year":"2000","journal-title":"Am J Respir Crit Care Med"},{"key":"key-10.4103\/1008-682X.178857-70","first-page":"279","volume-title":"Cystic fibrosis: a review of epidemiology and pathobiology","author":"Strausbaugh","year":"2007","journal-title":"Clin Chest Med"},{"key":"key-10.4103\/1008-682X.178857-71","first-page":"431","volume-title":"Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection","author":"Phillipson","year":"2000","journal-title":"Hum Reprod"},{"key":"key-10.4103\/1008-682X.178857-72","first-page":"1297","volume-title":"Fertility issues in men with cystic fibrosis: survey of knowledge and opinion of patients","author":"Popli","year":"2009","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-73","first-page":"271","volume-title":"The comparative genetics of human spermatogenesis: clues from flies and other model organisms","author":"Hochstenbach","year":"2000","journal-title":"Results Probl Cell Differ"},{"key":"key-10.4103\/1008-682X.178857-74","first-page":"1","volume-title":"Effect of oxidative stress on male reproduction","author":"Agarwal","year":"2014","journal-title":"World J Mens Health"},{"key":"key-10.4103\/1008-682X.178857-75","first-page":"R159","volume-title":"Genetics of male infertility: from research to clinic","author":"Krausz","year":"2015","journal-title":"Reproduction"},{"key":"key-10.4103\/1008-682X.178857-76","first-page":"1650","volume-title":"Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue","author":"Lin","year":"2006","journal-title":"Fertil Steril"},{"key":"key-10.4103\/1008-682X.178857-77","first-page":"498","volume-title":"Coordinated transcriptional regulation patterns associated with infertility phenotypes in men","author":"Ellis","year":"2007","journal-title":"J Med Genet"},{"key":"key-10.4103\/1008-682X.178857-78","first-page":"11","volume-title":"Microarray technology offers a novel tool for the diagnosis and identification of therapeutic targets for male infertility","author":"He","year":"2006","journal-title":"Reproduction"},{"key":"key-10.4103\/1008-682X.178857-79","first-page":"31","volume-title":"Sequencing technologies - The next generation","author":"Metzker","year":"2010","journal-title":"Nat Rev Genet"},{"key":"key-10.4103\/1008-682X.178857-80","first-page":"1116","volume-title":"Microarray technology and applications in the arena of genome-wide association","author":"Grant","year":"2008","journal-title":"Clin Chem"},{"key":"key-10.4103\/1008-682X.178857-81","first-page":"433","volume-title":"DNA microarrays","author":"Bier","year":"2008","journal-title":"Adv Biochem Eng Biotechnol"},{"key":"key-10.4103\/1008-682X.178857-82","first-page":"711","volume-title":"Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia","author":"Aston","year":"2009","journal-title":"J Androl"}],"container-title":["Asian Journal of Andrology"],"original-title":[],"language":"en","deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T13:26:39Z","timestamp":1786713999000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/1008-682X.178857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":82,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016]]}},"alternative-id":["178857"],"URL":"https:\/\/doi.org\/10.4103\/1008-682x.178857","relation":{},"ISSN":["1008-682X"],"issn-type":[{"value":"1008-682X","type":"print"}],"subject":[],"published":{"date-parts":[[2016]]}}}