Endocrine Abstracts

The recent discovery of human mutations in genes encoding gonadotrophins and their receptors has greatly expanded our knowledge about the pituitary-gonadal function. Further information has been obtained from the numerous gene-modified animal models where the normal pituitary-gonadal function has been disrupted either by transgenic or gene disruption techniques. These studies have unravelled, for instance, the specific functions of the two gonadotropins, FSH and LH, in the absence of the other, the gonadotrophin-independent phases in the development and mature function of the reproductive processes, and the pathophysiological actions of aberrant gonadotrophin secretion. Our own work of the recent years has been concentrating on polymorphisms and mutations of human gonadotrophin and gonadotrophin receptor genes, as well as on various gene-modified mouse models where gonadotrophin function has been enhanced through transgenic techniques or disrupted by gene knockout. In this lecture, the key findings of these studies will be reviewed.