The characteristics of true positive patients and true negatives subjects are reported in Table 1, while those of the entire cohort based on their underlying etiologies (IGHD, CGHD, TGHD), and on the presence of isolated GHD or MPHD, independently of GH peak to ITT, are summarized in Table 2. The gene discussed is GH1; the disease is isolated congenital growth hormone deficiency.