Pathogenic mutations in the growth hormone releasing hormone receptor, GHRHR (Salvatori et al., 1999, 2001; Wajnrajch, Gertner, Harbison, Chua, & Leibel, 1996) and GHSR have also been reported to cause IGHD (Inoue et al., 2011; Pantel et al., 2009; Pugliese‐Pires et al., 2011). The gene discussed is GHRHR; the disease is isolated congenital growth hormone deficiency.