Donohue syndrome

Donohue syndrome (pronunciation: /ˈdɒnəˌhjuː/), also known as Leprechaunism, is a rare, autosomal recessive disorder characterized by severe insulin resistance. The syndrome was first described by Dr. William L. Donohue in 1948.

Etymology

The term "Donohue syndrome" is named after Dr. William L. Donohue, who first described the condition. The alternative name, "Leprechaunism", is derived from the characteristic elfin-like features of affected individuals, although this term is now considered pejorative and is less commonly used.

Symptoms

Donohue syndrome is characterized by severe insulin resistance, growth retardation, and characteristic dysmorphic features. Symptoms may include:

• Hyperinsulinemia
• Hyperglycemia
• Acanthosis nigricans
• Hirsutism
• Dysmorphic features

Causes

Donohue syndrome is caused by mutations in the INSR gene, which provides instructions for making a protein that is essential for regulating blood sugar levels.

Diagnosis

Diagnosis of Donohue syndrome is based on clinical features, laboratory tests showing elevated insulin levels, and genetic testing confirming a mutation in the INSR gene.

Treatment

Treatment for Donohue syndrome is supportive and symptomatic. Management may include insulin-sensitizing medications, growth hormone therapy, and management of specific symptoms.

Prognosis

The prognosis for individuals with Donohue syndrome is generally poor, with most individuals not surviving past infancy or early childhood.

See also

• Insulin resistance
• INSR gene
• Rare diseases

External links

• Medical encyclopedia article on Donohue syndrome
• Wikipedia's article - Donohue syndrome

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