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Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

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Congenital hyperinsulinism (CHI) can result from paternal ABCC8 mutations, causing either diffuse or focal disease. Genetic testing is crucial for diagnosis, guiding treatment decisions for this rare condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excessive insulin secretion leading to severe hypoglycemia.
  • CHI presents with two histological subtypes: diffuse and focal.
  • Diffuse CHI is commonly caused by recessive ABCC8/KCNJ11 mutations, while focal CHI arises from a paternally inherited mutation and loss of heterozygosity.

Purpose of the Study:

  • To report the first genetically confirmed case of CHI in Singapore.
  • To investigate a heterozygous paternally inherited ABCC8 mutation in a patient with CHI.

Main Methods:

  • A term male infant presented with severe hyperinsulinaemic hypoglycemia (HH) unresponsive to medical management.
  • Genetic testing revealed a paternally inherited ABCC8 mutation (p.D1472N).
  • Due to the unavailability of (18)F-DOPA-PET/CT, a partial pancreatectomy was performed.

Main Results:

  • Histological examination of the resected pancreatic tissue showed features consistent with diffuse CHI.
  • Despite genetic findings suggesting focal disease, the patient's presentation and histology indicated diffuse CHI.

Conclusions:

  • Heterozygous paternally inherited ABCC8/KCNJ11 mutations can manifest as either diffuse or focal CHI.
  • The molecular basis for heterozygous ABCC8 mutations leading to diffuse CHI remains unclear.
  • (18)F-DOPA-PET/CT is the preferred imaging modality for localizing focal CHI lesions.