Open AccessInheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
Author(s) -
Joyce Caroline M.,
Houghton Jayne A.,
O’Halloran Domhnall J.,
O’Shea Paula M.,
O’Connell Susan M.
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2885
Subject(s) - congenital hyperinsulinism , etiology , medicine , hyperinsulinism , loss of heterozygosity , pediatrics , genetic testing , insulinoma , newborn screening , diabetes mellitus , insulin , genetics , endocrinology , allele , insulin resistance , gene , biology
Advances in genomics and 18 F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families.