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Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome [PDF]
Frontiers in PediatricsShwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, metaphyseal chondrodysplasia, and bone marrow failure.
Chenyang Chang +17 more
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A case of spherophakia-induced angle closure and retinal dysfunction in association with Klinefelter syndrome [PDF]
BMC OphthalmologyBackground Klinefelter syndrome (47,XXY) commonly associated with hypogonadism, infertility, and neurocognitive deficits, has rarely reported ocular anomalies. This case highlights a novel ocular presentation of Klinefelter syndrome, emphasizing the role
Yuan Zhao +4 more
doaj +2 more sources
Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma [PDF]
Respiratory Medicine Case ReportsKlinefelter 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.
Haruyasu Sakuranaka +5 more
doaj +2 more sources
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association [PDF]
BMC Pediatrics, 2012 Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Ros-Pérez Purificación +5 more
doaj +5 more sources
Citation: 'Klinefelter syndrome' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10877 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Los E, Leslie SW, Kadam SJ, Ford GA.
europepmc +6 more sources
A Case of Glomerulonephritis Associated with Klinefelter' Syndrome [PDF]
Kosin Medical Journal, 2012 Klinefelter' syndrome is a disorder of sexual differentiation in males, characterized by the presence of two or more X-chromosomes, hypogonadism, and lack of secondary sexual characteristics.
Jin Hyuk Cho +5 more
doaj +1 more source
Archives of Internal Medicine, 1998 Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility ...
C M, Smyth, W J, Bremner
openaire +2 more sources
What does Klinefelter syndrome mean for men with azoospermia in Japan? [PDF]
Journal of Midwifery & Reproductive Health, 2018 Background & aim: The aim of this study was to explore the men’s perceptions of being diagnosed with Klinefelter syndrome. Methods: This qualitative study was conducted on five azoospermic men diagnosed with Klinefelter syndrome referring to two special ...
Fumi Atogami +3 more
doaj +1 more source
A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
core +2 more sources