Klinefelter syndrome: clinical features

Evidence-based neurology checklist on klinefelter syndrome: clinical features: 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 Physical appearance Genitourinary features…

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

Physical appearance

Genitourinary features

Endocrine features

Neurological features

Reported associations

Other features

References

  1. 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. 
  2. 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.
  3. Blevins CH, Wilson ME. Klinefelter’s syndrome.  BMJ 2012; 345:e7558.
  4. Coutinho E, Pereira JP, Dias D, et al. Tremor and white matter lesions in Klinefelter syndrome. Mov Disord. 2010; 25:1993-1994.
  5. Harlow TL, Gonzalez-Alegre P. High prevalence of reported tremor in Klinefelter syndrome. Parkinsonism Relat Disord 2009; 15:393-395.
  6. And 24 more. Subscribe to see the full list

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