GHRHR and isolated congenital growth hormone deficiency: Another example is the dwarfism of Itabaianinha, which we first described in 1999 in the northeasterner Brazilian state of Sergipe (Salvatori et al., 1999), characterized by severe IGHD due to the c.57 + 1G> A mutation in the GHRH receptor gene (GHRHR, OMIM No. 612781).