A Case Series: Congenital Hyperinsulinism.

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Congenital hyperinsulinism (CHI) is a rare genetic disorder affecting pancreatic beta-cell function, leading to severe hypoglycemia.
• Incidence is approximately 1 in 50,000 births, with mutations in at least 8 genes identified.
• ABCC8 gene mutations are the most frequent cause (40%), followed by KCNJ11 and HADH.

Observation:

• A study investigated six infants with persistent hyperinsulinism, all presenting with early-onset hyperinsulinemia.
• Five patients had consanguineous parents, suggesting recessive inheritance.
• Pathological analysis revealed diffuse and focal forms of CHI; genetic analysis identified homozygous mutations in five patients (autosomal recessive) and a heterozygous mutation in one (autosomal dominant).

Findings:

• Genetic analysis using PCR and Sanger sequencing identified mutations in ABCC8, KCNJ11, and HADH genes.
• Both autosomal recessive and autosomal dominant inheritance patterns were observed.
• ABCC8 gene mutations were found to be associated with both inheritance patterns.

Implications:

• Understanding diverse inheritance patterns is crucial for accurate diagnosis and genetic counseling in congenital hyperinsulinism.
• Early diagnosis and intervention are vital, though psychomotor retardation can still occur.
• PCR and Sanger sequencing are effective methods for detecting mutations in key CHI-related genes.