The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Klinefelter syndrome: more than hypogonadism
Abstract
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and more than 70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing. KS patients present a series of comorbidities that increase morbidity and mortality by 40%. Such disturbances are the impaired metabolic profile (obesity, dyslipidemia, insulin resistance) and a tendency to thrombosis, which all favor cardiovascular disease. They also present susceptibility for specific neoplasias (breast cancer, extragonadal germ cell tumors), autoimmune diseases as well as osteoporosis and bone fractures. Moreover, KS has been associated with verbal processing and attention deficits as well as social skill impairments, leading KS individuals to academic and professional achievements inferior to those of their peers of comparable socio-economic status. Nevertheless, the majority fall within the average range regarding their intellectual abilities and adaptive functioning. Testosterone replacement therapy (TRT) is the mainstay of treatment in hypogonadal KS patients; however, randomized trials are needed to determine optimal therapeutic regimens and follow-up schedules.
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Cites
Bhasin, S., Cunningham, G. R., Hayes, F. J., Matsumoto, A. M., Snyder, P. J., Swerdloff, R. S., & Montori, V. M. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2354 · Cited by 1,954
The impact of translocations and gene fusions on cancer causation
Mitelman, F., Johansson, B., & Mertens, F. (2007) · Nature Reviews Cancer · doi:10.1038/nrc2091 · Cited by 1,400
Khaw, K.-T., Dowsett, M., Folkerd, E., Bingham, S., Wareham, N., Luben, R., Welch, A., & Day, N. (2007) · Circulation · doi:10.1161/circulationaha.107.719005 · Cited by 743
Gioia, G. A., Isquith, P. K., Retzlaff, P. D., & Espy, K. A. (2002) · Child Neuropsychology · doi:10.1076/chin.8.4.249.13513 · Cited by 608
Testosterone treatment and risk of venous thromboembolism: population based case-control study
Martinez, C., Suissa, S., Rietbrock, S., Katholing, A., Freedman, B., Cohen, A. T., & Handelsman, D. J. (2016) · BMJ · doi:10.1136/bmj.i5968 · Cited by 181
Testosterone Treatment and Sexual Function in Older Men With Low Testosterone Levels
Cunningham, G. R., Stephens-Shields, A. J., Rosen, R. C., Wang, C., Bhasin, S., Matsumoto, A. M., Parsons, J. K., Gill, T. M., Molitch, M. E., Farrar, J. T., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-1645 · Cited by 162
Karim (2015) · doi:10.1210/jc.2014-2834 · Cited by 142
Klinefelter syndrome and risk of psychosis, autism and ADHD
Cederlöf, M., Ohlsson Gotby, A., Larsson, H., Serlachius, E., Boman, M., Långström, N., Landén, M., & Lichtenstein, P. (2014) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.10.001 · Cited by 121 · cited 1×
“According to recent studies, the prevalence of ASD in KS ranges from 5 to 48% depending on the population studied and the tools used for assessment [49,56,58] and KS individuals show difficulties in cognitive flexibility, reduced empathic understanding and decreased visual fixation to the eye region [58,59].”
BackgroundJi, J., Zöller, B., Sundquist, J., & Sundquist, K. (2016) · International Journal of Cancer · doi:10.1002/ijc.30126 · Cited by 116 · cited 3×
“24) as well as associated mortality have been reported to be lower in KS compared to 46,XY [85,93].”
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Cited by
Minhas, S., Bettocchi, C., Boeri, L., Capogrosso, P., Carvalho, J., Cilesiz, N. C., Cocci, A., Corona, G., Dimitropoulos, K., Gül, M., et al. (2021) · European Urology · doi:10.1016/j.eururo.2021.08.014 · Cited by 622
Paediatric and adult-onset male hypogonadism
Salonia, A., Rastrelli, G., Hackett, G., Seminara, S. B., Huhtaniemi, I. T., Rey, R. A., Hellstrom, W. J. G., Palmert, M. R., Corona, G., Dohle, G. R., et al. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0087-y · Cited by 286
Tremor Syndromes: An Updated Review
Lenka, A., & Jankovic, J. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.684835 · Cited by 132
Metadata
- Authors
- Kanakis, G. A., & Nieschlag, E.
- Venue
- Metabolism
- Publisher
- Elsevier BV
- Published
- 2018-09
- Volume
- 86
- Pages
- 135-144
- ISSN
- 0026-0495 (ISSN-L)
- OpenAlex
- W2786926491
- Cited by
- 168
- References
- 9
- FWCI
- 9.58
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
