UNLABELLED: In congenital hyperinsulinism (HI). the in vivo pancreatic beta-cell function is poorly described. Among 14 neonates with severe hyperinsulinaemic hypoglycaemia, 2 patients had very prolonged or persistent hypoglycaemia and mutation in the sulphonylurea receptor SURI gene. Patient 1 had transient HI and was treated medically for 3.5 mo before clinical remission was seen. He had initially very high basal and stimulated C-peptide and insulin levels, followed by a state of normal preprandial values, but blunted beta-cell glucose sensitivity, before complete beta-cell normalization occurred. A single. paternal SURI mutation, G1382S, was found suggesting focal type HI. Patient 2 had persistent HI and underwent 3 pancreas resections up to the age of 2 y, 7 mo, followed by a state of mild diabetes. On biopsy, diffuse-type beta-cell hypertrophy was seen. The beta-cell response to glucose and glucagon stimulation was blunted before, as well as after, pancreas resections. Compound heterozygosity for the SUR1 mutations 3992-3c to g and N188S was found. CONCLUSION: Transient, possibly focal, HI with paternal SUR1 mutation was associated with a gradual, but complete normalization of the in vivo beta-cell function; in the diffuse type HI, a blunted beta-cell response to glucose and glucagon stimulation persisted. In vivo beta-cell stimulation tests may contribute to the characterization of the HI subtypes.
UNLABELLED: In congenital hyperinsulinism (HI). the in vivo pancreatic beta-cell function is poorly described. Among 14 neonates with severe hyperinsulinaemic hypoglycaemia, 2 patients had very prolonged or persistent hypoglycaemia and mutation in the sulphonylurea receptor SURI gene. Patient 1 had transient HI and was treated medically for 3.5 mo before clinical remission was seen. He had initially very high basal and stimulated C-peptide and insulin levels, followed by a state of normal preprandial values, but blunted beta-cell glucose sensitivity, before complete beta-cell normalization occurred. A single. paternal SURI mutation, G1382S, was found suggesting focal type HI. Patient 2 had persistent HI and underwent 3 pancreas resections up to the age of 2 y, 7 mo, followed by a state of mild diabetes. On biopsy, diffuse-type beta-cell hypertrophy was seen. The beta-cell response to glucose and glucagon stimulation was blunted before, as well as after, pancreas resections. Compound heterozygosity for the SUR1 mutations 3992-3c to g and N188S was found. CONCLUSION: Transient, possibly focal, HI with paternal SUR1 mutation was associated with a gradual, but complete normalization of the in vivo beta-cell function; in the diffuse type HI, a blunted beta-cell response to glucose and glucagon stimulation persisted. In vivo beta-cell stimulation tests may contribute to the characterization of the HI subtypes.