In addition to GHS, RNF216 mutations have been detected in cases with Huntington-like disease (HLD), 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism (HH) [5–7]. Here, RNF216 is linked to hypogonadotropic hypogonadism.