Results 1 to 10 of about 8,738 (174)
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
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
Klinefelter syndrome in combination with familial male-limited precocious puberty (clinical case)
Mìžnarodnij Endokrinologìčnij Žurnal, 2023 The article presents the results of a literature review on Klinefelter syndrome combined with familial male-limited precocious puberty and describes a clinical case. Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an
T.V. Sorokman +2 more
doaj +1 more source
Clinical Case Reports, 2021 Patients with Klinefelter syndrome face many challenges in oral treatment and bone mineralization due to multiple systemic dysfunctions. This case report follows the geometrical treatment with immediate implant loading of an adult male patient with ...
Galina Ciobanu +3 more
doaj +1 more source
Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula +2 more
doaj +1 more source
Endocrine Connections, 2023 The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We
Claus H Gravholt +9 more
doaj +1 more source