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) 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 / Bonomi, M.; Rochira, V.; Pasquali, D.; Balercia, G.; Jannini, E. A.; Ferlin, A.; Calogero, A.; Corona, G.; Fabbri, A.; Francavilla, F.; Giagulli, V.; Lanfranco, F.; Maggi, M.; Pivonello, R.; Pizzocaro, A.; Radicioni, A.; Accardo, L.; Cangiano, B.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Mambro, A. D.; Esposito, D.; Foresta, C.; Francavilla, S.; Galdiero, M.; Garolla, A.; Giovannini, L.; Balercia, A. R. M.; La Vignera, S.; Motta, G.; Luciano, L.; Pelliccione, F.; Persani, L.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - 40:2(2017), pp. 123-134. [10.1007/s40618-016-0541-6]

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

Rochira V.;Santi D.;Simoni M.;
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.
Ahead Of Print from PubMed (19/10/2020)
2017
19-set-2016
no
Inglese
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.
40
2
123
134
WOS:000396880500002
2-s2.0-85010868140
27644703
https://link.springer.com/article/10.1007/s40618-016-0541-6
Azoospermia; Chromosome abnormalities; Hypergonadotropic hypogonadism; Klinefelter syndrome; KS; Male infertility; Testosterone; Humans; Hypogonadism; Klinefelter Syndrome; Phenotype
open
info:eu-repo/semantics/article
Contributo su RIVISTA::Articolo su rivista
262
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism / Bonomi, M.; Rochira, V.; Pasquali, D.; Balercia, G.; Jannini, E. A.; Ferlin, A.; Calogero, A.; Corona, G.; Fabbri, A.; Francavilla, F.; Giagulli, V.; Lanfranco, F.; Maggi, M.; Pivonello, R.; Pizzocaro, A.; Radicioni, A.; Accardo, L.; Cangiano, B.; Condorelli, R. A.; Cordeschi, G.; D'Andrea, S.; Mambro, A. D.; Esposito, D.; Foresta, C.; Francavilla, S.; Galdiero, M.; Garolla, A.; Giovannini, L.; Balercia, A. R. M.; La Vignera, S.; Motta, G.; Luciano, L.; Pelliccione, F.; Persani, L.; Santi, D.; Selice, R.; Simoni, M.; Tatone, C.; Tirabassi, G.; Tresoldi, A. S.; Vicari, E.. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - 40:2(2017), pp. 123-134. [10.1007/s40618-016-0541-6]
Bonomi, M.; Rochira, V.; Pasquali, D.; Balercia, G.; Jannini, E. A.; Ferlin, A.; Calogero, A.; Corona, G.; Fabbri, A.; Francavilla, F.; Giagulli, V.; ...espandi
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