Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.
AffiliationDepartment of Pathology, School of Medicine, Keio University, and Saiseikai Central Hospital, Tokyo, Japan.
MetadataShow full item record
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.
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.
JournalArchives of Pathology & Laboratory Medicine
- Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.
- Authors: Lenz P, Luetjens CM, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E
- Issue date: 2005 May
- 47,XXY Klinefelter's syndrome with low FSH and LH levels and absence of Leydig cells.
- Authors: Nistal M, Paniagua R, Abaurrea MA, Pallardo LF
- Issue date: 1980 Sep-Oct
- [Clinical and genetic study of a 46, XX man with occult mosaicism ].
- Authors: Maciá Bobes C, Alonso Troncoso I, Botas Cervero P, Castaño Fernández G, Fau Cubero C
- Issue date: 2002 Oct
- A study of the endocrine manifestations of hepatic cirrhosis.
- Authors: Baker HW, Burger HG, de Kretser DM, Dulmanis A, Hudson B, O'Connor S, Paulsen CA, Purcell N, Rennie GC, Seah CS, Taft HP, Wang C
- Issue date: 1976 Jan
- Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels.
- Authors: Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I
- Issue date: 1975 Oct