The pathogenic change p.Val123GlyfsTer69 was a single monogenic defect, whereas two others, p.Cys167Tyr (LP) and p.Glu166Gly (VUS), appeared in combination with variants in FGF8 and BMP2. Further studies are required to determine the importance of the NSMF gene in the pathogenesis of nIHH. Here, NSMF is linked to hypogonadotropic hypogonadism.