Defectos genéticos en la acción de la insulina por alteración en su receptor. Caso pediátrico.

There are multiple causes of diabetes in childhood with different pathophysiological mechanisms that make it a challenge for health care providers to identify it and make a timely diagnosis and treatment. A small subgroup of patients stands out for presenting severe hyperinsulinism secondary to complete or partial insulin resistance due to mutations in the receptor. These patients present striking phenotypic features, hyperandrogenism and metabolic alterations with different degrees of severity ranging from death in the first years of life to patients with metabolic control and follow-up in adulthood. We present the case of an infant with hyperglycemia since birth with poor response to insulin and striking clinical manifestations: dysmorphic features, macrocephaly, exophthalmos, hypertrichosis, among others, which led to further studies under the diagnostic suspicion of syndrome associated with congenital insulin resistance.