GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in<i>KISS1</i>/<i>Kiss1</i>

Abstract

Deleterious, heterozygous RSV in KISS1 exist at a low frequency in GnRH-deficient patients as well as in the general population in presumably normal individuals. As in Kiss1(+/-)/Kiss1r(+/-) mice, heterozygous KISS1 variants in humans may work with other genetic and/or environmental factors to cause abnormal reproductive function.