title: Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.
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.
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.|Division of Endocrine and Metabolic Diseases & Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Bonomi
authors.affiliation: Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via P. Giardini 1355, 41126, Modena, Italy. rochira.vincenzo@unimore.it.|Azienda USL of Modena, NOCSAE, Via P. Giardini 1355, 41126, Modena, Italy. rochira.vincenzo@unimore.it.
authors.forename: V
authors.initials: V
authors.lastname: Rochira
authors.affiliation: Department of Cardiothoracic and Respiratory Science, Second University of Naples, Naples, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pasquali
authors.affiliation: Division of Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, Polytechnic University of Marche, Via Conca 71, 60126, Ancona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Balercia
authors.affiliation: Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.
authors.forename: E A
authors.initials: EA
authors.lastname: Jannini
authors.affiliation: Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ferlin
mesh_terms: D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000473:pathology*; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype
keywords: Azoospermia; Chromosome abnormalities; Hypergonadotropic hypogonadism; KS; Klinefelter syndrome; Male infertility; Testosterone