Understanding the genetic etiology of hyperinsulinism has been a focus of investigation for a number of years; in addition to specific genes identified related to mechanisms within the pancreatic beta cell, several genetic syndromes have been linked to hyperinsulinism. These include Beckwith-Wiedemann syndrome, Sotos syndrome, Kabuki syndrome, and Turner syndrome. All of these syndromes have been noted to occur with subtle presentations with hyperinsulinism being a clue toward diagnosis of the syndrome, and given there are additional medical management recommendations for patients with these syndromes, it is important to consider possible syndromic etiology as part of the evaluation for patients with hyperinsulinism.
Kalish, J. M., & Arnoux, J. B. (2019). Syndromic causes of congenital hyperinsulinism. In Contemporary Endocrinology (pp. 49–59). Humana Press Inc. https://doi.org/10.1007/978-3-030-02961-6_4