Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

Abstract

What is already known about this topic? Leprechaunism (Donohue syndrome) is the most severe form of insulin resistance caused by autosomal recessive mutations in the insulin receptor gene and is characterized by extreme insulin resistance leading to hyperinsulinemia, impaired glucose homeostasis and prenatal and postnatal growth retardation. Moreover, dysmorphic features, hypertrichosis, acanthosis nigricans, macrogenitosomia, and polycystic ovaries and breast enlargement in females are also present, and common complications include hypertrophy of internal organs. Patients with leprechaunism usually die in the first year of life.

Topics & Concepts