{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T04:32:41Z","timestamp":1775277161283,"version":"3.50.1"},"reference-count":23,"publisher":"The Endocrine Society","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Azoospermic subjects affected by Klinefelter\u2019s syndrome may occasionally show the presence of intratesticular residual foci of spermatogenesis, and the retrieval of mature spermatozoa from the testis may permit fertility and paternity by means of intracytoplasmic sperm injection.<\/jats:p>\n               <jats:p>Previous studies have demonstrated that these subjects show the presence of an increased incidence of hyperaploid spermatozoa. Here we analyzed, by fluorescence in situ hybridization using specific probes for chromosomes 8, X, and Y, the spermatogenic process and the meiotic progression of 47,XXY germ cells retrieved by fine needle aspiration of the testis in ten azoospermic patients affected by classic Klinefelter\u2019s syndrome. All patients had lower testicular volume, higher gonadotropins, and lower testosterone plasma levels compared with control subjects. Cytological analysis of the testicular cells retrieved by fine needle aspiration showed the presence of Sertoli cells only in eight subjects, while germ cells were observed in two patients. In each patient Sertoli cells showed a 47,XXY karyotype, and the same chromosome pattern was observed in spermatogonia and primary spermatocytes of patients presenting a residual spermatogenesis. Secondary spermatocytes, spermatids, and mature spermatozoa showed different sex chromosome patterns, reflecting their origin from 47,XXY spermatogonia.<\/jats:p>\n               <jats:p>In conclusion, this study demonstrated that, in subjects affected by Klinefelter\u2019s syndrome, residual germ cells may be present in the testis and that 47,XXY spermatogonia are able to undergo and complete the spermatogenic process leading to mature spermatozoa. These data further suggest the need to evaluate the sex chromosome status of sperm from patients affected by Klinefelter\u2019s syndrome undergoing assisted reproductive techniques.<\/jats:p>","DOI":"10.1210\/jcem.84.10.6029","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:03:58Z","timestamp":1389200638000},"page":"3807-3810","source":"Crossref","is-referenced-by-count":8,"title":["Analysis of Meiosis in Intratesticular Germ Cells from Subjects Affected by Classic Klinefelter\u2019s Syndrome"],"prefix":"10.1210","volume":"84","author":[{"given":"Carlo","family":"Foresta","sequence":"first","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Galeazzi","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bettella","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Marin","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Rossato","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Garolla","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Ferlin","sequence":"additional","affiliation":[{"name":"University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071613574447400_R1","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1001\/archinte.158.12.1309","article-title":"Klinefelter syndrome.","volume":"158","author":"Smyth","year":"1998","journal-title":"Arch Intern Med"},{"key":"2020071613574447400_R2"},{"key":"2020071613574447400_R3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1530\/acta.0.0430012","article-title":"A fertile patient with with Klinefelter\u2019s syndrome.","volume":"43","year":"1963","journal-title":"Acta Endocrinol"},{"key":"2020071613574447400_R4","doi-asserted-by":"crossref","first-page":"149","DOI":"10.3109\/01485018208987032","article-title":"Paternity in Klinefelter\u2019s syndrome\u2013a case report.","volume":"8","author":"Laron","year":"1982","journal-title":"Arch Androl"},{"key":"2020071613574447400_R5","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S0015-0282(16)55334-5","article-title":"Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting.","volume":"58","author":"Terzoli","year":"1992","journal-title":"Fertil Steril"},{"key":"2020071613574447400_R6","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1093\/humrep\/13.7.1887","article-title":"A birth in non-mosaic Klinefelter\u2019s syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis.","volume":"13","author":"Reubinoff","year":"1998","journal-title":"Hum Reprod"},{"key":"2020071613574447400_R7","author":"Paulsen","year":"1992"},{"key":"2020071613574447400_R8","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/BF00218909","article-title":"Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY\/XXY mosaic patient.","volume":"93","author":"Cozzi","year":"1994","journal-title":"Hum Genet"},{"key":"2020071613574447400_R9","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1093\/humrep\/13.1.124","article-title":"Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in situ hybridization analysis.","volume":"13","author":"Estop","year":"1998","journal-title":"Hum Reprod"},{"key":"2020071613574447400_R10","first-page":"249","article-title":"E\u0301tude des chromosomes meiotiques dans un cas de maladie de Klinefelter avec spermatogenese et caryotype 46,XY\/47,XXY.","volume":"13","author":"Luciani","year":"1970","journal-title":"Ann Ge\u0301ne\u0301t"},{"key":"2020071613574447400_R11","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1007\/s004390050391","article-title":"Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter\u2019s karyotype: a FISH analysis.","volume":"99","author":"Guttenbach","year":"1997","journal-title":"Hum Genet"},{"key":"2020071613574447400_R12","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s004390050380","article-title":"Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35142 sperm nuclei from two 47,XYY males.","volume":"99","author":"Chevret","year":"1997","journal-title":"Hum Genet"},{"key":"2020071613574447400_R13","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1038\/2211075a0","article-title":"Meiotic chromosomes in Klinefelter\u2019s syndrome.","volume":"221","author":"Skakkebaek","year":"1969","journal-title":"Nature"},{"key":"2020071613574447400_R14","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/S0015-0282(97)00539-6","article-title":"Genetic counseling in a patient with XXY\/XXXY\/XY mosaic Klinefelter\u2019s syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection.","volume":"69","author":"Kruse","year":"1998","journal-title":"Fertil Steril"},{"key":"2020071613574447400_R15","first-page":"203","article-title":"High incidence of sperm sex chromosome aneuploidies in two patients with Klinefelter\u2019s syndrome.","volume":"83","author":"Foresta","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613574447400_R16","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/S0015-0282(16)54971-1","article-title":"Assessment of testicular cytology by fine needle aspiration as a diagnostic parameter in the evaluation of the azoospermic subject.","volume":"57","author":"Foresta","year":"1992","journal-title":"Fertil Steril"},{"key":"2020071613574447400_R17","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1093\/oxfordjournals.humrep.a019461","article-title":"Constitution of semen samples from XYY and XXY males as analyzed by in situ hybridization.","volume":"11","author":"Martini","year":"1996","journal-title":"Hum Reprod"},{"key":"2020071613574447400_R18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1093\/oxfordjournals.humrep.a137315","article-title":"Cytogenetics studies in male infertility: a review.","volume":"6","author":"De Braekeleer","year":"1991","journal-title":"Hum Reprod"},{"key":"2020071613574447400_R19","first-page":"93","article-title":"Chromosome abnormalities and male infertility.","volume":"6","author":"Yoshida","year":"1996","journal-title":"Assist Reprod Rev"},{"key":"2020071613574447400_R20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0140-6736(92)92425-F","article-title":"Pregnancies after cytoplasmic injection of a single spermatozoon into an oocyte.","volume":"340","author":"Palermo","year":"1992","journal-title":"Lancet"},{"key":"2020071613574447400_R21","first-page":"718","volume":"68","author":"Hinney","year":"1997"},{"key":"2020071613574447400_R22","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1093\/humrep\/12.11.2447","article-title":"Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter\u2019s syndrome.","volume":"12","author":"Bourne","year":"1997","journal-title":"Hum Reprod"},{"key":"2020071613574447400_R23","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1056\/NEJM199802263380905","article-title":"Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter\u2019s syndrome.","volume":"338","author":"Palermo","year":"1998","journal-title":"N Engl J Med"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/10\/3807\/9063996\/jcem3807.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/10\/3807\/9063996\/jcem3807.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T01:03:06Z","timestamp":1594947786000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/84\/10\/3807\/2660736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,10,1]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1999,10,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.84.10.6029","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,10,1]]}}}