Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to b...

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Autores principales: Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., Ferlin, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2016
Materias:
Short Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5269463/
https://www.ncbi.nlm.nih.gov/pubmed/27644703
http://dx.doi.org/10.1007/s40618-016-0541-6
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author Bonomi, M.
Rochira, V.
Pasquali, D.
Balercia, G.
Jannini, E. A.
Ferlin, A.
author_facet Bonomi, M.
Rochira, V.
Pasquali, D.
Balercia, G.
Jannini, E. A.
Ferlin, A.
author_sort Bonomi, M.
collection PubMed
description Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients’ interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.
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spelling pubmed-52694632017-02-09 Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism Bonomi, M. Rochira, V. Pasquali, D. Balercia, G. Jannini, E. A. Ferlin, A. J Endocrinol Invest Short Review Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients’ interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships. Springer International Publishing 2016-09-19 2017 /pmc/articles/PMC5269463/ /pubmed/27644703 http://dx.doi.org/10.1007/s40618-016-0541-6 Text en © The Author(s) 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Short Review
Bonomi, M.
Rochira, V.
Pasquali, D.
Balercia, G.
Jannini, E. A.
Ferlin, A.
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title_full Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title_fullStr Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title_full_unstemmed Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title_short Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
title_sort klinefelter syndrome (ks): genetics, clinical phenotype and hypogonadism
topic Short Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5269463/
https://www.ncbi.nlm.nih.gov/pubmed/27644703
http://dx.doi.org/10.1007/s40618-016-0541-6
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