Searchable abstracts of presentations at key conferences in endocrinology

ea0019s44 | Kisspeptin: a novel regulator of puberty and fertility | SFEBES2009

Human kisspeptin receptor mutations and puberty

Seminara Stephanie

Kisspeptin is an undisputed regulator of sexual maturation and reproductive function across mammalian species. Mutations in human patients in either kisspeptin and/or its receptor are rare in number but prismatic in scope and have led to unique genotype/phenotype and structure/function correlations. Mice with targeted deletions of either kisspeptin or its receptor have also contributed greatly to our understanding of the physiology underlying this critical pathway in reproduct...