In keeping with previously described cohorts of NFPMA, at presentation our cohort showed hypopituitarism in 76.2% [6, 7, 17, 18], with the GH and Gn axes being most frequently impaired [6, 7, 17, 19], and a greater prevalence in those presenting at an older age [19–21]. The gene discussed is GH1; the disease is hypopituitarism.