Klinefelter syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Klinefelter syndrome: clinical features. This is the most common X chromosome disorder in males. Fully referenced neurology checklist.
Pathology
- This is the most common X chromosome disorder in males
- There is an additional X-chromosome (47XXY)
- The mean age at diagnosis is in the mid 30’s
Onset features
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Physical appearance
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Genitourinary features
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Endocrine features
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Neurological features
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Reported associations
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Other features
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References
- Zitzmann M, Aksglaede L, Corona G, et al. European academy of andrology guidelines on Klinefelter syndrome. Endorsing Organization: European Society of Endocrinology. Andrology 2021; 9:145-167.
- Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome-a clinical update. J Clin Endocrinol Metab 2013; 98:20-30.
- Blevins CH, Wilson ME. Klinefelter’s syndrome. BMJ 2012; 345:e7558.
- Coutinho E, Pereira JP, Dias D, et al. Tremor and white matter lesions in Klinefelter syndrome. Mov Disord. 2010; 25:1993-1994.
- Harlow TL, Gonzalez-Alegre P. High prevalence of reported tremor in Klinefelter syndrome. Parkinsonism Relat Disord 2009; 15:393-395.
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