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 / M. Bonomi, V. Rochira, D. Pasquali, G. Balercia, E.A. Jannini, A. Ferlin. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 1720-8386. - 40:2(2017 Feb), pp. 123-134. [10.1007/s40618-016-0541-6]

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

M. Bonomi;
2017-02

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.
Azoospermia; Chromosome abnormalities; Hypergonadotropic hypogonadism; KS; Klinefelter syndrome; Male infertility; Testosterone
Settore MED/13 - Endocrinologia
Settore MED/03 - Genetica Medica
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/472127
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