Donohue

Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin regulates blood sugar by controlling how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.

Symptoms

The symptoms of Donohue syndrome include growth retardation, hyperinsulinemia, hyperglycemia, hypertrichosis, and dysmorphic facial features. These symptoms are usually present at birth and progress rapidly.

Causes

Donohue syndrome is caused by mutations in the INSR gene, which provides instructions for making a protein that is essential for controlling insulin activity. The mutations lead to the production of an abnormally functioning protein, which impairs the body's ability to regulate blood sugar levels.

Diagnosis

Diagnosis of Donohue syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing showing a mutation in the INSR gene.

Treatment

Treatment for Donohue syndrome is supportive and symptomatic. Management may include insulin therapy, dietary modifications, and other treatments for the various symptoms.

Prognosis

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

See also

• Insulin resistance
• INSR gene
• Insulin therapy

References

Donohue Resources
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