Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Caroline M Joyce; Jayne A Houghton; Domhnall J O'Halloran; Paula M O'Shea; Susan M O'Connell

doi:10.1002/ccr3.2885

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Clin Case Rep. 2020 Apr 23;8(7):1217-1222. doi: 10.1002/ccr3.2885. eCollection 2020 Jul.

Authors

Caroline M Joyce¹, Jayne A Houghton², Domhnall J O'Halloran³, Paula M O'Shea⁴, Susan M O'Connell⁵

Affiliations

¹ Department of Clinical Biochemistry Cork University Hospital Cork Ireland.
² Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK.
³ Department of Endocrinology Cork University Hospital Cork Ireland.
⁴ Department of Clinical Biochemistry University College Hospital Galway Ireland.
⁵ Department of Paediatrics and Child Health Cork University Hospital Cork Ireland.

Abstract

Advances in genomics and ¹⁸F-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.

Keywords: 18F‐DOPA; Congenital hyperinsulinism; diabetes mellitus; hypoglycemia; loss of heterozygosity.

Publication types

Case Reports