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
doaj +2 more sources
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
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.
K. Langeswaran +2 more
europepmc +6 more sources
Impact of age at first visit on glycolipid metabolism, bone metabolism, and fertility potential in patients with Klinefelter syndrome [PDF]
Andrology, Volume 14, Issue 1, Page 122-131, January 2026.Abstract Background Classic Klinefelter syndrome (KS) is characterized by one extra X chromosome (47, XXY), leading to hypergonadotropic hypogonadism and higher risk of alterations in glycolipid homeostasis, cardiovascular diseases, and low bone mineral density. Most frequently, KS is diagnosed in adulthood because of infertility.
Giordana Ferraioli +7 more
wiley +2 more sources
The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature [PDF]
, 2019 open access ...
Cheetham, Tim +8 more
core +2 more sources
Beyond the literal meaning of words in children with klinefelter syndrome: two case studies [PDF]
, 2018 Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms.
Melogno, Sergio +3 more
core +1 more source
Unusual presentation of Klinefelter syndrome
Indian Journal of Endocrinology and Metabolism, 2013 Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele.
Chanchal Das +4 more
doaj +1 more source
Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in schizophrenia [PDF]
, 2010 of poster presentation shown at the 2nd Biennial Schizophrenia International Research Conference on Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in ...
Dawson, Neil +3 more
core +1 more source
Molecular Cytogenetics, 2022 Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been ...
Svetlana G. Vorsanova +7 more
doaj +1 more source