Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A44 Insulin-resistance syndromes
H00719 Leprechaunism
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00719 Leprechaunism
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
