Donohue Syndrome (Leprechaunism)

Definition

Donohue syndrome is a severe autosomal recessive disorder characterized by extreme insulin resistance, growth retardation, characteristic facial appearance, and endocrine disorders.

Symptoms

  • Severe growth retardation
  • Inelastic skin
  • Hypertrichosis (excessive hair growth)
  • Wide nose, large ears

Reasons

Insulin receptor gene (INSR) mutations.

Diagnosis

Clinical findings, high insulin levels, genetic testing.

Treatment

Symptomatic treatment, nutritional support, growth factors.

Which Polyclinic Should You Apply To?

Pediatric Endocrinology Polyclinic

What to Do in an Emergency?

In case of severe hypoglycemia or metabolic acidosis, emergency services should be consulted.

This page is for general information purposes only.