{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:46Z","timestamp":1753883566297,"version":"3.41.2"},"reference-count":29,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Klinefelter syndrome (KS) is a chromosome disorder characterized by small firm testes, gynecomastia, hypogonadism, and abnormally elevated concentrations of follicle-stimulating hormone (FSH). Most KS patients show a classic 47,XXY karyotype, while about 20% have other numeric sex chromosome abnormalities, including mosaicisms. 47,XXY\/46,XX mosaicism is extremely rare, and has been reported in just 10 individuals with features suggestive of KS. None of these had any spermatozoa in their ejaculate or testicular samples.<\/jats:p>\n               <jats:p>We describe the first case of sperm retrieval in a 19-year-old male patient with a 47,XXY\/46,XX chromosomal pattern, assessed on 100 metaphases. Since 2 semen analyses had shown azoospermia, the patient underwent surgical testicular sperm extraction (TESE): Numerous primary spermatocytes, spermatids, and spermatozoa with normal morphology and nonlinear motility were found in the right testis, while few spermatocytes and rare immobile spermatozoa were observed in the left testis. Immediate cryopreservation of the sample was performed in our sperm bank for future use in assisted reproductive technology.<\/jats:p>\n               <jats:p>This case underscores the rarity and complexity of this genetic condition and highlights the importance of early fertility assessment and intervention in patients with a 47,XXY\/46,XX karyotype.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf096","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T06:24:43Z","timestamp":1747290283000},"source":"Crossref","is-referenced-by-count":0,"title":["First Case of Sperm Detection by Testicular Sperm Extraction in a Patient With XXY\/XX Mosaicism"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1228-3784","authenticated-orcid":false,"given":"Natascia","family":"Tahani","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, Section of Medical Pathophysiology and Endocrinology, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]},{"name":"PhD Programme in Endocrinological Sciences, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]},{"name":"Department for the Promotion of Human Sciences and Quality of Life, San Raffaele Roma Open University , Rome 00166 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8333-6295","authenticated-orcid":false,"given":"Francesco","family":"Cargnelutti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Section of Medical Pathophysiology and Endocrinology, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5645-5766","authenticated-orcid":false,"given":"Matteo","family":"Spaziani","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Section of Medical Pathophysiology and Endocrinology, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]},{"name":"Department of Theoretical and Applied Sciences, eCampus University , Novedrate 22060 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9699-8703","authenticated-orcid":false,"given":"Donatella","family":"Paoli","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Section of Medical Pathophysiology and Endocrinology, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]},{"name":"Laboratory of Seminology\u2014Sperm Bank \u201cLoredana Gandini,\u201d Policlinico Umberto I , Rome 00161 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0722-7163","authenticated-orcid":false,"given":"Massimiliano","family":"Caprio","sequence":"additional","affiliation":[{"name":"Department for the Promotion of Human Sciences and Quality of Life, San Raffaele Roma Open University , Rome 00166 ,","place":["Italy"]},{"name":"Laboratory of Cardiovascular Endocrinology, IRCCS San Raffaele , Rome 00166 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-5417","authenticated-orcid":false,"given":"Andrea","family":"Isidori","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Section of Medical Pathophysiology and Endocrinology, Sapienza University of Rome , Rome 00161 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,5,15]]},"reference":[{"issue":"11","key":"2025052400020764800_luaf096-B1","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1210\/jcem-2-11-615","article-title":"Syndrome characterized by gynecomastia, aspermatogenesis without a leydigism, and increased excretion of follicle-stimulating hormone","volume":"2","author":"Klinefelter","year":"1942","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2025052400020764800_luaf096-B2","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ncpuro0775","article-title":"Klinefelter syndrome in clinical practice","volume":"4","author":"Bojesen","year":"2007","journal-title":"Nat Clin Pract Urol"},{"issue":"9430","key":"2025052400020764800_luaf096-B3","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/S0140-6736(04)16678-6","article-title":"Klinefelter's sindrome","volume":"364","author":"Lanfranco","year":"2004","journal-title":"Lancet"},{"issue":"4","key":"2025052400020764800_luaf096-B4","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1530\/EJE-17-0902","article-title":"Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions?","volume":"178","author":"Spaziani","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"4667","key":"2025052400020764800_luaf096-B5","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/1831030a0","article-title":"A presumptive human XXY\/XX mosaicism","volume":"183","author":"Ford","year":"1959","journal-title":"Nature"},{"key":"2025052400020764800_luaf096-B6","first-page":"483","article-title":"Chromosome findings in true Klinefelter syndrome","volume":"39","author":"Nowakowski","year":"1960","journal-title":"Acta Endocrinol (Copenh)"},{"issue":"7135","key":"2025052400020764800_luaf096-B7","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1016\/S0140-6736(60)91088-6","article-title":"Mosaicism in Klinefelter's syndrome","volume":"1","author":"Crooke","year":"1960","journal-title":"Lancet"},{"issue":"6","key":"2025052400020764800_luaf096-B8","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1542\/peds.38.6.982","article-title":"XXY 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