Congenital hyperinsulinism

Congenital Hyperinsulinism

Congenital hyperinsulinism (pronounced: kənˈjenɪtəl ˌhaɪpərˌɪnsjʊˈlɪnɪzəm) is a rare endocrine disorder characterized by excessive insulin secretion, leading to persistent hypoglycemia in newborns and infants.

Etymology

The term "congenital hyperinsulinism" is derived from the Latin word "congenitus" meaning "born with," and the Greek words "hyper" meaning "over," "insulin" referring to the hormone insulin, and "ism" denoting a condition or disease.

Symptoms

The primary symptom of congenital hyperinsulinism is persistent hypoglycemia, which can lead to seizures, developmental delays, and permanent brain damage if not treated promptly. Other symptoms may include lethargy, poor feeding, and rapid breathing.

Causes

Congenital hyperinsulinism is usually caused by mutations in certain genes that regulate insulin secretion from the pancreas. These mutations can be inherited from parents or occur spontaneously.

Diagnosis

Diagnosis of congenital hyperinsulinism involves blood tests to measure insulin and glucose levels, genetic testing to identify mutations, and imaging studies to visualize the pancreas.

Treatment

Treatment options for congenital hyperinsulinism include medications to reduce insulin secretion, feeding strategies to maintain blood glucose levels, and surgery to remove part or all of the pancreas.

Related Terms

• Endocrine disorder
• Insulin
• Hypoglycemia
• Pancreas

External links

• Medical encyclopedia article on Congenital hyperinsulinism
• Wikipedia's article - Congenital hyperinsulinism

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