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.

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

LANFRANCO, Fabio;MOTTA, GIOVANNA;
2017

Abstract

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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http://link.springer.com/journal/40618
Azoospermia; Chromosome abnormalities; Hypergonadotropic hypogonadism; Klinefelter syndrome; KS; Male infertility; Testosterone; Humans; Hypogonadism; Klinefelter Syndrome; Phenotype; Endocrinology, Diabetes and Metabolism; Endocrinology
Bonomi, Marco; Rochira, V.; Pasquali, D.; Balercia, G.; Jannini, E.A.; Ferlin, A.; On behalf of the Klinefelter ItaliaN Group, Null; Balercia, Giancarlo; Calogero, Aldo; Corona, Giovanni; Fabbri, Andrea; Ferlin, Alberto; Francavilla, Felice; Giagulli, Vito; Lanfranco, Fabio; Maggi, Mario; Pasquali, Daniela; Pivonello, Rosario; Pizzocaro, Alessandro; Pivonello, Rosario; Radicioni, Antonio; Rochira, Vincenzo; Accardo, Linda; Cangiano, Biagio; Condorelli, Rosita A.; Cordeschi, Giuliana; D’Andrea, Settimio; Mambro, Antonella Di; Esposito, Daniela; Foresta, Carlo; Francavilla, Sandro; Galdiero, Mariano; Garolla, Andrea; Giovannini, Lara; Balercia, Antonio R. M.; La Vignera, Sandro; Motta, Giovanna; Luciano, Luciano; Pelliccione, Fiore; Persani, Luca; Santi, Daniele; Selice, Riccardo; Simoni, Manuela; Tatone, Carla; Tirabassi, Giacomo; Tresoldi, Alberto Stefano; Vicari, Enzo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1633560
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