Journal
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
Volume 22, Issue 3, Pages 209-216Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MED.0000000000000157
Keywords
hypogonadism; intelligence quotient; neurocognition; socioeconomic status; testosterone treatment
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Funding
- Aarhus University
- Lundbeck Foundation
- Aase and Einar Danielsen foundation
- A.P. Moller and wife Chastine Mc-Kinney Mollers Foundation
- Novo Nordisk Foundation
- Central Denmark Region
- Danish Ministry of Science, Technology, and Innovation
- Novo Nordisk Fonden [NNF13OC0003234, NNF14OC0010549, NNF13OC0005513, NNF15OC0016474] Funding Source: researchfish
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Purpose of reviewTo summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome. PubMed was searched for Klinefelter', Klinefelter's' and XXY' in titles and abstracts. Relevant studies were obtained and reviewed, as well as other articles selected by the authors.Recent findingsKlinefelter syndrome is the most common sex-chromosome disorder in humans, affecting one in 660 men. The key findings in Klinefelter syndrome are small testes, hypergonadotropic hypogonadism and cognitive impairment. Klinefelter syndrome scores significantly below education matched controls on a range of cognitive tests with verbal skills displaying the largest effects. Boys with Klinefelter syndrome are often in the need of speech therapy and many suffer from learning disability and may benefit from special education. New studies are elucidating aspects of cognitive functioning and suggesting that neuropsychological treatment may be of value. The socioeconomic status and educational level of Klinefelter syndrome is severely affected with many struggling to achieve any or only shorter education, resulting in low-income levels and early retirement. In addition, few become fathers and fewer live with a partner compared with controls. Medical treatment is mainly testosterone replacement therapy in order to alleviate acute and long-term consequences of hypogonadism, as well as, treating or preventing the frequent comorbidity.SummaryThe neurocognitive phenotype of Klinefelter syndrome is being unraveled and the need for psychological and cognitive treatment in many cases is evident. The neurocognitive deficits no doubt influence the socioeconomic status of many Klinefelter syndrome patients, which is clearly inferior to age-matched controls.
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