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Male Hypogonadism pp 101–124Cite as

Male Hypogonadism Resulting From Mutations in the Genes for the Gonadotropin Subunits and Their Receptors

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

Abstract

The unraveling of the structure of the human genome has allowed for major advances in the diagnostics of inherited diseases. Besides clear disease-causing mutations, the emerging knowledge about single nucleotide and microsatellite polymorphisms in the human genome is adding a new level of complexity to genomic function, providing the structural basis for individual variability of the genome and its phenotypic expression. All mutations can, in principle, be classified as inactivating, activating, or neutral, i.e., with no effect on function of the encoded protein. The hormone ligand mutations that are known today are almost invariably inactivating. The polymorphisms, by definition, are neutral, or they have only minor effects at the functional level. In some cases, they may even offer a functional advantage to their carriers. In the case of hormone receptors, the inactivating mutations block receptor function through a variety of mechanisms, whereas with activating mutations, the receptor becomes constitutively activated in the absence of hormone, or it acquires novel functions not present in the wild-type (WT) receptor.

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  1. Ilpo T. Huhtaniemi MD, PhD
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  1. Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Louisville, Louisville, KY, USA

    Stephen J. Winters MD (Chief) (Chief)

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Huhtaniemi, T. (2004). Male Hypogonadism Resulting From Mutations in the Genes for the Gonadotropin Subunits and Their Receptors. In: Winters, S.J. (eds) Male Hypogonadism. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-727-7_6

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  • DOI: https://doi.org/10.1007/978-1-59259-727-7_6

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