In addition to central CH, IGSF1 deficiency in males leads to a heterogeneous phenotype, including macroorchidism, delayed pubertal testosterone rise (but a normal timing of testicular growth) and in some cases other pituitary hormone deficiencies, namely low serum prolactin and growth hormone (GH) deficiency (in childhood) (Table 2) (37, 38). This evidence concerns the gene IGSF1 and Macroorchidism.