ReviewEndocrine, metabolic & immune disorders drug targets2019
Neuropsychiatric Aspects in Men with Klinefelter Syndrome.
Review in Endocrine, metabolic & immune disorders drug targets, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review.European journal of endocrinology · 2022Pooled it
- Improvement of Multifactorial Tremor in Klinefelter Syndrome With Testosterone Replacement Therapy.Case reports in endocrinology · 2026Article
- A case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.PCN reports : psychiatry and clinical neurosciences · 2025Article
- Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.European journal of pediatrics · 2025Article
- Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report.Children (Basel, Switzerland) · 2024Review
- Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.JAMA network open · 2024Article
- Multifactorial sleep disturbance in Klinefelter syndrome: a case report.Translational andrology and urology · 2023Article
- Osteoporosis and bone metabolism in patients with Klinefelter syndrome.Endocrine connections · 2023Review
- Review
- A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.International journal of general medicine · 2022Article
- Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern.Frontiers in genetics · 2021Article
- Age-Related Male Hypogonadism and Cognitive Impairment in the Elderly: Focus on the Effects of Testosterone Replacement Therapy on Cognition.Geriatrics (Basel, Switzerland) · 2020Review
- The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study.The Pan African medical journal · 2019Observational
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectiveKlinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY) and cause of male hypergonadotropic hypogonadism. It is characterized by an extreme clinical heterogeneity in presentation, including infertility, hypogonadism, language delay, metabolic comorbidities, and neurocognitive and psychiatric disorders. Since testosterone is known to have organizational, neurotrophic and neuroprotective effects on brain, the condition of primary hypogonadism could play a role. Moreover, given that KS subjects have an additional X, genes on the extra-chromosome could also exert a significant impact. The aim of this narrative review is to analyze the available literature on the relationship between KS and neuropsychiatric disorders.
methodsTo extend to the best of published literature on the topic, appropriate keywords and MeSH terms were identified and searched in Pubmed. Finally, references of original articles and reviews were examined.
resultsBoth morphological and functional studies focusing on the brain showed that there were important differences in brain structure of KS subjects. Different psychiatric disorders such as Schizophrenia, autism, attention deficit hyperactivity disorder, depression and anxiety were frequently reported in KS patients according to a broad spectrum of phenotypes. T supplementation (TRT) was not able to improve the psychotic disorders in KS men with or without overt hypogonadism.
conclusionAlthough the risk of psychosis, depression and autism is increased in subjects with KS, no definitive evidence has been found in studies aiming at identifying the relationship between aneuploidy, T deficit and the risk of psychiatric and cognitive disorders in subjects affected by KS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.