Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.

2.50
Hdl Handle:
http://hdl.handle.net/10541/80059
Title:
Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.
Authors:
Matsuoka, Kentaro; Orikasa, Hideki; Eyden, Brian P; Yamazaki, Kazuto
Abstract:
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 "occult" Klinefelter syndrome.
Affiliation:
Department of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan.
Citation:
Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis. 2002, 126 (3):359-61 Arch. Pathol. Lab. Med.
Journal:
Archives of Pathology & Laboratory Medicine
Issue Date:
Mar-2002
URI:
http://hdl.handle.net/10541/80059
PubMed ID:
11860315
Type:
Article
Language:
en
ISSN:
0003-9985
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorMatsuoka, Kentaro-
dc.contributor.authorOrikasa, Hideki-
dc.contributor.authorEyden, Brian P-
dc.contributor.authorYamazaki, Kazuto-
dc.date.accessioned2009-09-07T12:54:23Z-
dc.date.available2009-09-07T12:54:23Z-
dc.date.issued2002-03-
dc.identifier.citationPostmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis. 2002, 126 (3):359-61 Arch. Pathol. Lab. Med.en
dc.identifier.issn0003-9985-
dc.identifier.pmid11860315-
dc.identifier.urihttp://hdl.handle.net/10541/80059-
dc.description.abstractThis 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 "occult" Klinefelter syndrome.en
dc.language.isoenen
dc.subject.meshDNA-
dc.subject.meshFatal Outcome-
dc.subject.meshFollicle Stimulating Hormone-
dc.subject.meshHumans-
dc.subject.meshHyperplasia-
dc.subject.meshIn Situ Hybridization, Fluorescence-
dc.subject.meshKidney Failure, Chronic-
dc.subject.meshKlinefelter Syndrome-
dc.subject.meshLeydig Cells-
dc.subject.meshLiver Cirrhosis-
dc.subject.meshLuteinizing Hormone-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshMosaicism-
dc.subject.meshTestosterone-
dc.titlePostmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.en
dc.typeArticleen
dc.contributor.departmentDepartment of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan.en
dc.identifier.journalArchives of Pathology & Laboratory Medicineen

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