Inactivating and Activating Mutations of the FSH Receptor Gene

  • Ilpo T. Huhtaniemi
Part of the Contemporary Endocrinology book series (COE, volume 6)


It has only recently became apparent that infertility and subfertility may be hereditary conditions. Numerous mutations have been discovered in genes that participate in the regulation of reproductive functions, and those of the gonadotropin receptors (R) have received considerable attention. Since the discovery of the first luteinizing hormone receptor (LHR) mutations in 1993 (1,2), more than 15 mutations have been so far reported in this gene (see Chapter 9, and refs. 3,4). The nature of the mutation determines to what extent the phenotype of the affected individuals is altered. “Loss-of-function” mutations usually require homozygosity or compound heterozygosity for phenotypic alterations, but with “gain-of-function” mutations, heterozygotes display altered hormonal function and phenotype. The first mutations of the follicle-stimulating hormone receptor (FSHR) have just recently been discovered. The purpose of this chapter is to review briefly the structural and functional features of the FSHR, to describe the currently known FSHR mutations, their pathophysiological consequences, and to discuss some future perspectives in the study of the role of FSHR function in reproduction.


Granulosa Cell Sertoli Cell Precocious Puberty Luteinizing Hormone Receptor Gonadotropin Receptor 
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© Springer Science+Business Media New York 1998

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  • Ilpo T. Huhtaniemi

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