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Phenotype of the Adulthood

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Klinefelter’s Syndrome

Part of the book series: Trends in Andrology and Sexual Medicine ((TASM))

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Abstract

Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features. The reduction of the volume of the testes remains the peculiar clinical hallmark of Klinefelter’s syndrome. The broad spectrum of Klinefelter phenotypes depends on the genetic background (mosaicism, number of supernumerary X chromosome) as well as the degree of hypogonadism, patient’s age, and delay in the diagnosis. The relationship between clinical phenotype and pathogenesis is still not completely understood and needs to be fully elucidated, in order to facilitate the diagnosis and the clinical management of this condition. As expected, the degree of severity of the phenotype influences psychosocial issues and quality of life in these patients.

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Authors and Affiliations

  1. Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

    Sara De Vincentis & Vincenzo Rochira

  2. Department of Medical Specialties, Azienda Ospedaliero-Universitaria of Modena, Modena, Italy

    Sara De Vincentis & Vincenzo Rochira

Authors
  1. Sara De Vincentis
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  2. Vincenzo Rochira
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Correspondence to Vincenzo Rochira .

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Editors and Affiliations

  1. Unit of Andrology and Reproductive Medicine, University of Padua, Padua, Italy

    Andrea Garolla

  2. Endocrinology Unit, Ospedale Maggiore, Bologna, Italy

    Giovanni Corona

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De Vincentis, S., Rochira, V. (2020). Phenotype of the Adulthood. In: Garolla, A., Corona, G. (eds) Klinefelter’s Syndrome. Trends in Andrology and Sexual Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-51410-5_14

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  • DOI: https://doi.org/10.1007/978-3-030-51410-5_14

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  • Online ISBN: 978-3-030-51410-5

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