Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Although <jats:italic>NDNF</jats:italic> was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced <jats:italic>NDNF</jats:italic> in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect on splice-site recognition, were identified in <jats:italic>NDNF</jats:italic> coding exons or flanking intronic sequences. These results indicate the rarity of <jats:italic>NDNF</jats:italic> variants in CHH patients and highlight the genetic heterogeneity of CHH.</jats:p>