SGPL1 and endocrine system disorder: Six individuals reported with all three major endocrinopathies (adrenal, gonadal and thyroid disease), all with associated nephrotic disease, had variants which were not confined to the active pyridoxal-dependent decarboxylase conserved domain of SGPL1 but were distributed throughout the cytoplasmic domain (Fig. 4) (4, 5, 7, 9, 10, 20).