Tremor Associated With Klinefelter Syndrome: Report of a Case Treated by Deep Brain Stimulation and Systematic Review of the Literature
Bibliographic record
Abstract
INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.003 | 0.003 |
| Bibliometrics | 0.010 | 0.010 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".