The GPR54 gene as a regulator of puberty
Seminara SB, Messager S, Chatzidaki EE, et al. New England Journal of Medicine 2003;349:1614-1627.
What it found
Members of a family who never went through puberty carried a mutation in GPR54, the gene for what is now called the kisspeptin receptor; an unrelated patient carried two other mutations. Mice bred without the gene had the same kind of hormone deficiency: small testes in males and delayed maturation in females.
Limitations
Genetic study of a few families plus a mouse model. It shows the receptor is needed for puberty; it does not test kisspeptin-10 as a substance.
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