An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.

New information about mutations and polymorphisms in the genes for the gonadotrophins and their receptors has become available in the last few years. In this short review mutations and polymorphisms in gonadotrophins, their receptors and their pathophysiological effects and implications are discussed. An increasingly clear picture about the structure-function relationships of gonadotrophin action is emerging from the combining the types and the locations of the mutations with their phenotypic effects and the information about the crystal structure of these molecules.

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