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Klinefelter Syndrome and Other Forms of Primary Testicular Failure

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Male Hypogonadism

Part of the book series: Contemporary Endocrinology ((COE))

Abstract

Klinefelter syndrome (KS) is the most common sex chromosome disorder in men affecting 1 in 400–600 males across all ethnic groups. Men with KS have at least one supernumerary X chromosome resulting in a 47, XXY genotype. KS can present in childhood, adolescence or adulthood with varying degrees of hypogonadism, gynecomastia, very small testes and azoospermia. In adults, FSH and LH levels are elevated, and testosterone levels are low or low normal. The diagnosis is confirmed by tissue karyotyping which usually reveals a 47, XXY genotype, although about 10% of men with KS phenotype are mosaic (47, XXY/46, XY), and infrequently additional X chromosomes are present. Treatment consists of testosterone replacement, and in the subset of patients in whom sperm are present on testicular biopsy, infertility can be treated by in vitro fertilization using intracytoplasmic sperm injection.

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Authors and Affiliations

  1. Department of Medicine, University of Washington, 1959 NE Pacific St., Box 356429, Seattle, WA, 98195, USA

    John K. Amory MD, MPH & William J. Bremner MD, PhD

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  1. John K. Amory MD, MPH
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  2. William J. Bremner MD, PhD
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Correspondence to John K. Amory MD, MPH .

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Editors and Affiliations

  1. Department of Medicine, Endocrinology, D, University of Louisville Health Sciences, Louisville, USA

    Stephen J. Winters

  2. Department of Surgery and Cancer, Imperial College London, London, United Kingdom

    Ilpo T. Huhtaniemi

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Amory, J.K., Bremner, W.J. (2017). Klinefelter Syndrome and Other Forms of Primary Testicular Failure. In: Winters, S., Huhtaniemi, I. (eds) Male Hypogonadism. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-53298-1_9

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  • DOI: https://doi.org/10.1007/978-3-319-53298-1_9

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