Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma
Klinefelter syndrome is characterized by endocrine abnormalities, gynecomastia, female-like body shape, and mild intellectual disability. However, the diagnosis of Klinefelter syndrome is often missed due to the lack of characteristic findings. Computed tomography revealed a mass in the left lung of...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Respiratory Medicine Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007125000024 |
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| author | Haruyasu Sakuranaka Ryoma Tanaka Yuji Yamakawa Shiho Yamada Komei Igei Yasuo Asai |
| author_facet | Haruyasu Sakuranaka Ryoma Tanaka Yuji Yamakawa Shiho Yamada Komei Igei Yasuo Asai |
| author_sort | Haruyasu Sakuranaka |
| collection | DOAJ |
| description | Klinefelter syndrome is characterized by endocrine abnormalities, gynecomastia, female-like body shape, and mild intellectual disability. However, the diagnosis of Klinefelter syndrome is often missed due to the lack of characteristic findings. Computed tomography revealed a mass in the left lung of a 66-year-old man. He was diagnosed with small-cell lung carcinoma. Chemotherapy was administered, but the disease progressed, eventually leading to death. No significant changes were observed in the external genitalia or breast, but the autopsy showed testicular atrophy. XXY cells were seen in fluorescence in situ hybridization, and Klinefelter syndrome was diagnosed. Although chemotherapy causes testicular atrophy, Klinefelter syndrome should be considered in cases of severe testicular atrophy. |
| format | Article |
| id | doaj-art-db8c73dbc7704ff38683debea095aaf5 |
| institution | Kabale University |
| issn | 2213-0071 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj-art-db8c73dbc7704ff38683debea095aaf52025-02-09T05:00:22ZengElsevierRespiratory Medicine Case Reports2213-00712025-01-0153102166Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinomaHaruyasu Sakuranaka0Ryoma Tanaka1Yuji Yamakawa2Shiho Yamada3Komei Igei4Yasuo Asai5Respiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, Japan; Corresponding author.Respiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, Japan; Department of Internal Medicine, Division of Respiratory Medicine, Nihon University School of Medicine, 30-1, Oyaguchikamicho, Itabashi-Ku, Tokyo, 173-8601, JapanRespiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, JapanRespiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, Japan; Department of Internal Medicine, Division of Respiratory Medicine, Nihon University School of Medicine, 30-1, Oyaguchikamicho, Itabashi-Ku, Tokyo, 173-8601, JapanRespiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, Japan; Department of Internal Medicine, Division of Respiratory Medicine, Nihon University School of Medicine, 30-1, Oyaguchikamicho, Itabashi-Ku, Tokyo, 173-8601, JapanRespiratory Medicine, Tokyo Metropolitan Toshima Hospital, 33-1, Sakaecho, Itabashi-Ku, Tokyo, 173-0015, Japan; Department of Internal Medicine, Division of Respiratory Medicine, Nihon University School of Medicine, 30-1, Oyaguchikamicho, Itabashi-Ku, Tokyo, 173-8601, JapanKlinefelter syndrome is characterized by endocrine abnormalities, gynecomastia, female-like body shape, and mild intellectual disability. However, the diagnosis of Klinefelter syndrome is often missed due to the lack of characteristic findings. Computed tomography revealed a mass in the left lung of a 66-year-old man. He was diagnosed with small-cell lung carcinoma. Chemotherapy was administered, but the disease progressed, eventually leading to death. No significant changes were observed in the external genitalia or breast, but the autopsy showed testicular atrophy. XXY cells were seen in fluorescence in situ hybridization, and Klinefelter syndrome was diagnosed. Although chemotherapy causes testicular atrophy, Klinefelter syndrome should be considered in cases of severe testicular atrophy.http://www.sciencedirect.com/science/article/pii/S2213007125000024Klinefelter syndromeAutopsyLung cancerSmall-cell lung carcinomaFluorescence in situ hybridization |
| spellingShingle | Haruyasu Sakuranaka Ryoma Tanaka Yuji Yamakawa Shiho Yamada Komei Igei Yasuo Asai Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma Respiratory Medicine Case Reports Klinefelter syndrome Autopsy Lung cancer Small-cell lung carcinoma Fluorescence in situ hybridization |
| title | Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma |
| title_full | Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma |
| title_fullStr | Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma |
| title_full_unstemmed | Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma |
| title_short | Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma |
| title_sort | klinefelter syndrome diagnosed at autopsy and small cell lung carcinoma |
| topic | Klinefelter syndrome Autopsy Lung cancer Small-cell lung carcinoma Fluorescence in situ hybridization |
| url | http://www.sciencedirect.com/science/article/pii/S2213007125000024 |
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