Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

• Main Authors: Julie Mouron-Hryciuk (Author), Sophie Stoppa-Vaucher (Author), Kanetee Busiah (Author), Thérèse Bouthors (Author), Maria Christina Antoniou (Author), Eric Jacot (Author), Klaus Brusgaard (Author), Henrik Thybo Christesen (Author), Khalid Hussain (Author), Andrew Dwyer (Author), Matthias Roth-Kleiner (Author), Michael Hauschild (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH fr...