Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Hyperinsulinemic hypoglycemia (HH) is a heterogeneous disorder of pancreatic beta-cell insulin secretion.
• HH can be congenital or associated with metabolic and syndromic conditions.
• Early diagnosis and management are critical to prevent neurological sequelae.

Purpose of the Study:

• To report on a rare association between mosaic r(X) Turner syndrome and hyperinsulinemic hypoglycemia.
• To describe the clinical presentation and treatment response in affected infants.

Main Methods:

• Case series of four infants diagnosed with mosaic r(X) Turner genotype and hyperinsulinemic hypoglycemia.
• Evaluation of diazoxide responsiveness for treatment.

Main Results:

• Four cases of infants with mosaic r(X) Turner genotype and hyperinsulinemic hypoglycemia were identified.
• All reported cases showed positive response to diazoxide therapy.
• This represents a significant increase in the number of reported cases of this rare association.

Conclusions:

• Mosaic r(X) Turner syndrome is a rare but significant cause of hyperinsulinemic hypoglycemia in infants.
• Diazoxide therapy appears effective in managing HH in this specific patient population.
• Further research is warranted to understand the underlying mechanisms of this association.