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Donohue Syndrome

Donohue Syndrome formerly known as Leprechaunism is a congenital condition characterized by extreme insulin resistance, preand postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy and enlarged external genitalia in both males and females.

Prevalence

<1 / 1 000 000

331

US Estimated

514

Europe Estimated

Age of Onset

Neonatal

ICD-10

E34.8

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Donohue syndrome, also known as leprechaunism, is an ultra-rare autosomal recessive disorder of insulin receptor dysfunction, most commonly caused by biallelic mutations in the INSR gene

FACT

Affected infants present with severe insulin resistance, characterized by intrauterine and postnatal growth restriction, fasting hypoglycemia, postprandial hyperglycemia, and markedly elevated insulin levels

FACT

Distinctive dysmorphic features include elfin-like facies, large low-set ears, thick lips, protuberant abdomen, and lipoatrophy, along with enlarged genitalia and hirsutism

FACT

Metabolic complications include hypertrophic cardiomyopathy, recurrent infections, and failure to thrive, contributing to very poor prognosis

FACT

Most infants with Donohue syndrome do not survive beyond the first year of life, though rare cases of longer survival have been reported with intensive supportive care and experimental therapies such as recombinant IGF-1

Interest over time

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