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Costello syndrome and hyperinsulinemic hypoglycemia
Saji Alexander1, Dina Ramadan, Haya Alkhayyat
1London Centre for Pediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, London, United kingdom.
American Journal of Medical Genetics. Part A
|November 10, 2005
Summary
Costello syndrome patients can experience persistent hyperinsulinemic hypoglycemia, a rare endocrine issue. Two cases required diazoxide treatment to manage unregulated insulin secretion and maintain normal blood sugar levels.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Costello syndrome is a rare genetic disorder with diverse clinical features including intellectual disability, distinctive facial features, skeletal and cardiovascular anomalies, and increased cancer risk.
- Endocrine dysfunction is a known complication, with documented instances of growth hormone deficiency, adrenal insufficiency, glucose intolerance, and hypoglycemia.
- Previous reports linked hypoglycemia in Costello syndrome to deficiencies in growth hormone and cortisol.
Observation:
- This study details two pediatric patients diagnosed with Costello syndrome who presented with persistent hyperinsulinemic hypoglycemia.
- These patients exhibited unregulated insulin secretion, a condition not previously well-characterized in Costello syndrome.
- Both individuals required pharmacological intervention to achieve glycemic control.
Findings:
- The two Costello syndrome patients required diazoxide therapy to effectively manage hyperinsulinism and maintain normoglycemia.
- Diazoxide treatment successfully inhibited the excessive insulin secretion, indicating its therapeutic potential in this specific context.
- The underlying mechanism driving persistent hyperinsulinism in Costello syndrome remains undetermined.
Implications:
- This research highlights persistent hyperinsulinemic hypoglycemia as a significant, yet poorly understood, endocrine manifestation of Costello syndrome.
- The findings underscore the importance of vigilant endocrine screening in individuals with Costello syndrome, particularly for glucose dysregulation.
- Further investigation into the pathophysiology of hyperinsulinism in Costello syndrome is warranted to elucidate the molecular mechanisms and potentially identify targeted therapies.