期刊
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
卷 40, 期 2, 页码 123-134出版社
SPRINGER
DOI: 10.1007/s40618-016-0541-6
关键词
Klinefelter syndrome; KS; Testosterone; Hypergonadotropic hypogonadism; Chromosome abnormalities; Azoospermia; Male infertility
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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