ReviewJournal of clinical medicine2022
Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.
Review in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- The effect of hypoglycaemia on neurodevelopment: insights from congenital hyperinsulinism.Nature reviews. Endocrinology · 2026Article
- Dental management of a 3-year-old child with congenital hyperinsulinism: A case report.Journal of family medicine and primary care · 2026Article
- Article
- Neonatal Congenital Hyperinsulinism: A Case-Based Contribution to the Understanding of a Rare Disorder.Cureus · 2025Article
- Neonatal Cholestasis Associated With Transient Congenital Hyperinsulinism: A Case Report.Cureus · 2025Article
- Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Severe transient neonatal hyperinsulinism: First Peruvian case series.SAGE open medical case reports · 2025Article
- A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia.Endocrinology, diabetes & metabolism case reports · 2024Article
- Congenital Hyperinsulinism Caused by Mutations inInternational journal of molecular sciences · 2024Article
- A Very Rare Case of Diabetes Mellitus Occurring in a Patient With Hyperinsulinism Hyperammonemia Syndrome.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births. Congenital hyperinsulinism (CHI) is symptomatic mostly in early infancy and the neonatal period. Symptoms range from ones that are unspecific, such as poor feeding, lethargy, irritability, apnoea and hypothermia, to more serious symptoms, such as seizures and coma. During clinical examination, newborns present cardiomyopathy and hepatomegaly. The diagnosis of CHI is based on plasma glucose levels <54 mg/dL with detectable serum insulin and C-peptide, accompanied by suppressed or low serum ketone bodies and free fatty acids. The gold standard in determining the form of HH is fluorine-18-dihydroxyphenyloalanine PET ((18)F-DOPA PET). The first-line treatment of CHI is diazoxide, although patients with homozygous or compound heterozygous recessive mutations responsible for diffuse forms of CHI remain resistant to this therapy. The second-line drug is the somatostatin analogue octreotide. Other therapeutic options include lanreotide, glucagon, acarbose, sirolimus and everolimus. Surgery is required in cases unresponsive to pharmacological treatment. Focal lesionectomy or near-total pancreatectomy is performed in focal and diffuse forms of CHI, respectively. To prove how difficult the diagnosis and management of CHI is, we present a case of a patient admitted to our hospital.
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