While CHD7 mutations were first linked to CHARGE (coloboma, heart defects, atresia choanae, retardation of growth and/or development, genital abnormalities, and ear abnormalities) syndrome [8], they have also been identified in patients with Kallmann syndrome and normosmic congenital hypogonadotropic hypogonadism [9]. This evidence concerns the gene CHD7 and Kallmann syndrome.