TY - JOUR
T1 - Hypoglycemia in Beckwith-Wiedemann syndrome
AU - DeBaun, M. R.
AU - King, A. A.
AU - White, N.
N1 - Funding Information:
The authors thank the participating families who made the project possible; the staff of the Genetic Epidemiology Branch at the National Cancer Institute for their helpful comments and encouragement; and the staff ofWestat Inc and IMS for their support. The authors also thank L. Aguilar-Bryan for her helpful comments in preparation of the manuscript.
PY - 2000
Y1 - 2000
N2 - Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macrosomia, macroglossia, abdominal wall defects, hypoglycemia in the neonatal period and embryonal cancers of infancy and early childhood. The frequency of hypoglycemia in this population is between 30% and 50%. The majority of infants with hypoglycemia will be asymptomatic and have resolution of the hypoglycemia within the first 3 days of life. Less than 5% will have hypoglycemia beyond the neonatal period requiring either continuous feeding or a partial pancreatectomy. The cause of hypoglycemia is unclear, but direct and indirect evidence supports a hyperinsulinemia as the major factor. Recent identification of the majority of genes associated with BWS in the 11p15 region and the genotype of persistent hyperinsulinemia hypoglycemia of childhood also in the 11p15 region may provide a molecular basis for hypoglycemia in BWS, particularly for the occasional patients with hypoglycemia requiring a partial pancreatectomy. Detailed genotype phenotype evaluations are needed and should provide an insight as to why patients with BWS have hypoglycemia. Copyright (C) 2000 by W.B. Saunders Company.
AB - Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macrosomia, macroglossia, abdominal wall defects, hypoglycemia in the neonatal period and embryonal cancers of infancy and early childhood. The frequency of hypoglycemia in this population is between 30% and 50%. The majority of infants with hypoglycemia will be asymptomatic and have resolution of the hypoglycemia within the first 3 days of life. Less than 5% will have hypoglycemia beyond the neonatal period requiring either continuous feeding or a partial pancreatectomy. The cause of hypoglycemia is unclear, but direct and indirect evidence supports a hyperinsulinemia as the major factor. Recent identification of the majority of genes associated with BWS in the 11p15 region and the genotype of persistent hyperinsulinemia hypoglycemia of childhood also in the 11p15 region may provide a molecular basis for hypoglycemia in BWS, particularly for the occasional patients with hypoglycemia requiring a partial pancreatectomy. Detailed genotype phenotype evaluations are needed and should provide an insight as to why patients with BWS have hypoglycemia. Copyright (C) 2000 by W.B. Saunders Company.
UR - http://www.scopus.com/inward/record.url?scp=0034090918&partnerID=8YFLogxK
U2 - 10.1053/sp.2000.6366
DO - 10.1053/sp.2000.6366
M3 - Article
C2 - 10805171
AN - SCOPUS:0034090918
VL - 24
SP - 164
EP - 171
JO - Seminars in Perinatology
JF - Seminars in Perinatology
SN - 0146-0005
IS - 2
ER -