{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:33:07Z","timestamp":1770816787631,"version":"3.50.1"},"reference-count":20,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This report describes a patient not suspected of having Klinefelter syndrome during life but diagnosed with it following postmortem examination using fluorescent in situ hybridization (FISH) for sex chromosomes and hormone serum analysis. A 49-year-old Japanese man had a history of nephrosis, heavy alcohol consumption, diabetes mellitus, and liver cirrhosis and had been undergoing dialysis for 10 years. He died of ruptured esophageal varices. Autopsy revealed hypogonadism, suggesting Klinefelter syndrome. This was confirmed by FISH, which showed a mosaic 46XY, 47XXY karyotype, and by serum analysis, which revealed high luteinizing hormone and follicle-stimulating hormone and low testosterone levels. Autopsy also revealed a nodular, bilateral, testicular Leydig cell hyperplasia. This report illustrates the value of postmortem laboratory investigations, particularly FISH for sex chromosomes and serum hormone analysis, for the demonstration of clinically uncertain or \u201coccult\u201d Klinefelter syndrome.<\/jats:p>","DOI":"10.5858\/2002-126-0359-pdooks","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T03:06:14Z","timestamp":1611889574000},"page":"359-361","source":"Crossref","is-referenced-by-count":1,"title":["Postmortem Diagnosis of \u201cOccult\u201d Klinefelter Syndrome in a Patient With Chronic Renal Disease and Liver Cirrhosis"],"prefix":"10.5858","volume":"126","author":[{"given":"Kentaro","family":"Matsuoka","sequence":"first","affiliation":[{"name":"From the Department of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan (Drs Matsuoka, Orikasa, and Yamazaki); and Christie Hospital, Manchester, England (Dr Eyden)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Orikasa","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan (Drs Matsuoka, Orikasa, and Yamazaki); and Christie Hospital, Manchester, England (Dr Eyden)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Eyden","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan (Drs Matsuoka, Orikasa, and Yamazaki); and Christie Hospital, Manchester, England (Dr Eyden)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuto","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan (Drs Matsuoka, Orikasa, and Yamazaki); and Christie Hospital, Manchester, England (Dr Eyden)"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3906","reference":[{"key":"i1543-2165-126-3-359-b1","series-title":"Arch Intern Med","first-page":"1309","article-title":"Klinefelter syndrome.","volume":"158","author":"Smyth, C. M.","year":"1998","unstructured":"Smyth, C. M. and W. J.Bremner. Klinefelter syndrome.Arch Intern Med1998. 158:1309\u20131314."},{"key":"i1543-2165-126-3-359-b2","series-title":"Ment Retard Dev Disabil Res Rev","first-page":"107","article-title":"Neurobehavioral phenotype of Klinefelter syndrome.","volume":"6","author":"Geschwind, D. H.","year":"2000","unstructured":"Geschwind, D. H., K. B.Boone, and B. L.Miller. et al. Neurobehavioral phenotype of Klinefelter syndrome.Ment Retard Dev Disabil Res Rev2000. 6:107\u2013116."},{"key":"i1543-2165-126-3-359-b3","series-title":"J Pediatr Endocrinol Metab","first-page":"459","article-title":"Central precocious puberty in 48, XXYY Klinefelter syndrome variant.","volume":"12","author":"Bertelloni, S.","year":"1999","unstructured":"Bertelloni, S., R.Battini, and G. I.Baroncelli. et al. Central precocious puberty in 48, XXYY Klinefelter syndrome variant.J Pediatr Endocrinol Metab1999. 12:459\u2013465."},{"key":"i1543-2165-126-3-359-b4","series-title":"Endocrine J","first-page":"601","article-title":"Low bone mineral density in a case of mosaicism Klinefelter syndrome: rapid response to testosterone therapy.","volume":"45","author":"Yamauchi, M.","year":"1998","unstructured":"Yamauchi, M., M.Tadano, and Y.Fukunaga. et al. Low bone mineral density in a case of mosaicism Klinefelter syndrome: rapid response to testosterone therapy.Endocrine J1998. 45:601\u2013604."},{"key":"i1543-2165-126-3-359-b5","article-title":"Essential Medical Genetics.","author":"Connor, J. M.","unstructured":"Connor, J. M. and M. A.Ferguson-Smith. Essential Medical Genetics.3rd ed. Oxford, England: Blackwell; 1992:135."},{"key":"i1543-2165-126-3-359-b6","series-title":"Lakartidningen","first-page":"2686","article-title":"Klinefelter syndrome affects mostly boys: an underdiagnosed chromosome abnormality [in Swedish].","volume":"95","author":"Hagen\u00e4s, L.","year":"1998","unstructured":"Hagen\u00e4s, L. and S.Arver. Klinefelter syndrome affects mostly boys: an underdiagnosed chromosome abnormality [in Swedish].Lakartidningen1998. 95:2686\u20132690."},{"key":"i1543-2165-126-3-359-b7","series-title":"J Clin Endocrinol","first-page":"615","article-title":"Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone.","volume":"2","author":"Klinefelter, H. F.","year":"1942","unstructured":"Klinefelter, H. F., E. C.Reifenstein, and F.Albright. Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone.J Clin Endocrinol1942. 2:615\u2013627."},{"key":"i1543-2165-126-3-359-b8","series-title":"Arch Esp Urol","first-page":"618","article-title":"Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells [in Spanish].","volume":"47","author":"Rodriguez de Ledesma, J. M.","year":"1994","unstructured":"Rodriguez de Ledesma, J. M., J. M.Cozar-Olmo, and N.Nistal-Martin. et al. Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells [in Spanish].Arch Esp Urol1994. 47:618\u2013620."},{"key":"i1543-2165-126-3-359-b9","article-title":"Tumor-like lesions of the testis, paratestis, and spermatic cord.","author":"Ulbright, T.","unstructured":"Ulbright, T., M. B.Amin, and R. H.Young. Tumor-like lesions of the testis, paratestis, and spermatic cord.In: Rosai J, Sobin LH, eds. Tumors of the Testis, Adnexa, Spermatic Cord, and Scrotum. Washington, DC: Armed Forces Institute of Pathology; 1999:291\u2013337. Atlas of Tumor Pathology; 3rd series, fascicle 25."},{"key":"i1543-2165-126-3-359-b10","series-title":"Br J Urol","first-page":"457","article-title":"Leydig cell tumor of the testis associated with Klinefelter's syndrome and Osgood-Schlatter disease.","volume":"73","author":"Okada, H.","year":"1994","unstructured":"Okada, H., A.Gotoh, and Y.Takechi. et al. Leydig cell tumor of the testis associated with Klinefelter's syndrome and Osgood-Schlatter disease.Br J Urol1994. 73:457."},{"key":"i1543-2165-126-3-359-b1","series-title":"Arch Intern Med","first-page":"1309","article-title":"Klinefelter syndrome.","volume":"158","author":"Smyth, C. M.","year":"1998","unstructured":"Smyth, C. M. and W. J.Bremner. Klinefelter syndrome.Arch Intern Med1998. 158:1309\u20131314."},{"key":"i1543-2165-126-3-359-b2","series-title":"Ment Retard Dev Disabil Res Rev","first-page":"107","article-title":"Neurobehavioral phenotype of Klinefelter syndrome.","volume":"6","author":"Geschwind, D. H.","year":"2000","unstructured":"Geschwind, D. H., K. B.Boone, and B. L.Miller. et al. Neurobehavioral phenotype of Klinefelter syndrome.Ment Retard Dev Disabil Res Rev2000. 6:107\u2013116."},{"key":"i1543-2165-126-3-359-b3","series-title":"J Pediatr Endocrinol Metab","first-page":"459","article-title":"Central precocious puberty in 48, XXYY Klinefelter syndrome variant.","volume":"12","author":"Bertelloni, S.","year":"1999","unstructured":"Bertelloni, S., R.Battini, and G. I.Baroncelli. et al. 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Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone.J Clin Endocrinol1942. 2:615\u2013627."},{"key":"i1543-2165-126-3-359-b8","series-title":"Arch Esp Urol","first-page":"618","article-title":"Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells [in Spanish].","volume":"47","author":"Rodriguez de Ledesma, J. M.","year":"1994","unstructured":"Rodriguez de Ledesma, J. M., J. M.Cozar-Olmo, and N.Nistal-Martin. et al. Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells [in Spanish].Arch Esp Urol1994. 47:618\u2013620."},{"key":"i1543-2165-126-3-359-b9","article-title":"Tumor-like lesions of the testis, paratestis, and spermatic cord.","author":"Ulbright, T.","unstructured":"Ulbright, T., M. B.Amin, and R. H.Young. Tumor-like lesions of the testis, paratestis, and spermatic cord.In: Rosai J, Sobin LH, eds. 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