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Introduction: The introduction of molecular biology techniques into the field of endocrinology has allowed the identification of single gene mutations as a cause for many endocrine hereditary syndromes. In many cases, and this certainly is true for the mutations in the receptors for luteinizing hormone (LH) and follicle-stimulating hormone (FSH) described herein, the studies have ascertained at the molecular level the function of these mutated genes, functions that previously had been shown in physiological studies. In this review mutations in gonadotropin receptors will be discussed in relation to the phenotype of the patients in which these mutations were demonstrated.

Among the gonadotropin receptor mutations many are in the LH receptor gene, and only two changes were found in the FSH receptor molecule. For this reason the major part of this review deals with mutations in the LH receptor gene and their effect on phenotype.

Activating mutations: LH receptor

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