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Klinefelter Syndrome

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Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

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Abstract

Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 600 newborn boys. It is caused by the presence of supernumerary X chromosomes in men. Most men have a 47, XXY karyotype, however 20 % have a variant form. KS has a varied phenotype comprising a range of both physical and psychosocial features and comorbidities. Mosaicism generally results in a less severe phenotype. The behavioral phenotype of KS includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction, and social-emotional difficulties. For patients diagnosed with KS, variousmanagement strategies can be used to improve health outcomes and quality of life.

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Author information

Authors and Affiliations

  1. Division of Pediatric Endocrinology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Vandana Raman M.D.

Authors
  1. Vandana Raman M.D.
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Correspondence to Vandana Raman M.D. .

Editor information

Editors and Affiliations

  1. Innovative Solutions for Disadvantage and Disability and Department of Pediatrics, Morehouse School of Medicine, Atlanta, GA, USA

    I. Leslie Rubin

  2. National Institute of Child Health and Human Development and Medical Services, Division for Developmental and Developmental Disabilities, Ministry of Social Affairs and Social Services, Jerusalem, Israel

    Joav Merrick

  3. Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Western Michigan University, Kalamazoo, MI, USA

    Donald E. Greydanus  & Dilip R. Patel  & 

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© 2016 Springer International Publishing Switzerland

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Raman, V. (2016). Klinefelter Syndrome. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_77

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  • DOI: https://doi.org/10.1007/978-3-319-18096-0_77

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-18095-3

  • Online ISBN: 978-3-319-18096-0

  • eBook Packages: MedicineMedicine (R0)

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