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

被引：224
作者：
Bonomi, M. [1 ,2 ,3 ]
Rochira, V. [4 ,5 ]
Pasquali, D. [6 ]
Balercia, G. [7 ]
Jannini, E. A. [8 ]
Ferlin, A. [9 ]
机构：
[1] Univ Milan, Dept Clin Sci & Community Hlth, Milan, Italy
[2] IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
[3] IRCCS Ist Auxol Italiano, Lab Endocrine & Metab Res, Milan, Italy
[4] Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Unit Endocrinol, Via P Giardini 1355, I-41126 Modena, Italy
[5] NOCSAE, Azienda USL Modena, Via P Giardini 1355, I-41126 Modena, Italy
[6] Univ Naples 2, Dept Cardiothorac & Resp Sci, Naples, Italy
[7] Polytech Univ Marche, Umberto Hosp 1, Dept Clin & Mol Sci, Div Endocrinol, Via Conca 71, I-60126 Ancona, Italy
[8] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy
[9] Univ Padua, Dept Med, Unit Androl & Reprod Med, Padua, Italy
来源：
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | 2017年 / 40卷 / 02期
关键词：
Klinefelter syndrome; KS; Testosterone; Hypergonadotropic hypogonadism; Chromosome abnormalities; Azoospermia; Male infertility; X-CHROMOSOME INACTIVATION; SERTOLI-CELL FUNCTION; INHIBIN-B LEVELS; PSEUDOAUTOSOMAL REGION; TESTOSTERONE TREATMENT; METABOLIC SYNDROME; BODY-COMPOSITION; ADOLESCENT BOYS; SEX-CHROMOSOMES; LINKED GENE;
D O I：
10.1007/s40618-016-0541-6
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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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收藏
页码：123 / 134
页数：12
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