Endocrine Abstracts

Human kisspeptin receptor mutations and puberty

Stephanie Seminara

Massachusetts General Hospital, Harvard, UK.

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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 reproductive neuroendocrinology. These topics will be the focus of today’s discussion.

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Endocrine Abstracts (2009) 19 S44