Tremor Associated With Klinefelter Syndrome: Report of a Case Treated by Deep Brain Stimulation and Systematic Review...

Klinefelter syndrome (KS) is a sex chromosome-related genetic disease that commonly affects male subjects with infertility. Small testes, gynecomastia, infertility, and possible developmental abnormalities are symptoms of this condition. According to recent studies, people with KS also may have other neurologic problems, particularly tremors resembling essential tremors. Our review attempts to explore the features of tremors and their treatment in individuals with KS using case studies and previously published research.

A PubMed/Medline search was conducted according to the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines using the following MeSH terms: ("Tremor") AND ("Klinefelter syndrome") OR ("Tremor") AND ("associated") AND ("Klinefelter syndrome") OR ("Tremor") AND ("hypogonadism"). The review included 24 articles.

The average age at tremor onset was 15.59 years, and the most prevalent tremor types (31.91% of cases) were a combination of postural and kinetic/intention tremors. Overall, 40% of patients exhibited some improvement; 10% showed significant improvement, and 50% showed no impact when antitremor medications were administered. Testosterone replacement therapy is not a suitable option for this symptom because the effects of testosterone treatment on tremors are inconsistent. In each of the three described cases, tremors were significantly relieved after deep brain stimulation (DBS) surgery of the ventral intermediate nucleus (VIM). We also report a case of a man aged 54 years with KS who was unable to perform his regular tasks owing to severe tremors. His tremor was well managed with bilateral DBS of the thalamic VIM nucleus.

Tremors are a potentially disabling associated manifestation of KS. The available literature on the management of tremors in patients with KS is limited. Surgical VIM-DBS has shown promising results in managing medication-refractory tremors in patients with KS, with an acceptable safety profile. Further research is needed to determine the causes of tremors in KS and to optimize treatment.