ArticleThe Journal of clinical endocrinology and metabolism2012
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
Article in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
87 citing papers in PubMed, 3 syntheses or guidelines pooled it, 166 citations in OpenAlex.
- Pregnancy and Neonatal Outcomes in Maturity-Onset Diabetes of the Young: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.Reviews in endocrine & metabolic disorders · 2022Pooled it
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.Kidney international reports · 2026Article
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Renal proteomic landscape of a patient with Fanconi renotubular syndrome carrying a novel GATM variant.Frontiers in physiology · 2026Article
- Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report.Cureus · 2025Article
- Identification of SEC16B as a novel regulator of glucose homeostasis.Diabetologia · 2025Article
- Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.Endocrine · 2025Article
- Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY).Journal of pediatric endocrinology & metabolism : JPEM · 2025Review
- Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.CEN case reports · 2025Article
- Clinical features and search for genetic determinants of postprandial hypoglycaemia.Endocrine connections · 2025Article
- Chinese carrier of theHeliyon · 2024Article
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.Diabetologia · 2024Article
- De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.Journal of nephrology · 2024Article
- Case report: A novelFrontiers in endocrinology · 2024Article
- Management of pregnancy in women with monogenic diabetes due to mutations inFrontiers in genetics · 2024Review
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
contextInactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. Children carrying HNF4A (MODY1) mutations can present in early infancy with macrosomia and diazoxide-responsive hyperinsulinism.
objectiveOur objective was to describe three novel cases of hyperinsulinism associated with MODY1 and MODY3 mutations. RESEARCH DESIGN AND
methodsClinical data were obtained from chart review. Gene sequencing was performed on genomic DNA.
resultsCase 1 was diagnosed at 20 months with persistent hyperinsulinemic hypoglycemia and was found to have a novel MODY3 HNF1A mutation, carried by her father who had diabetes. Case 2 was diagnosed with diazoxide-responsive hyperinsulinism at 3 months of age and had complete resolution of hyperinsulinism by 4 yr. She was found to have a novel MODY3 HNF1A missense mutation, also carried by her father. Case 3 presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Although the latter's features suggested Fanconi-Bickel syndrome, sequencing of the SLC2A2 gene was normal. The patient was found to have a known MODY1 mutation in HNF4A. In all cases, the hyperinsulinism improved with age.
conclusionsThe first two cases demonstrate that mutations in HNF1A (MODY3) can cause hyperinsulinism early in life and diabetes later, similar to the phenotype recently reported for HNF4A (MODY1) mutations. Case 3 indicates that the effects of HNF4A mutations in infancy may extend beyond pancreatic β-cells to produce a disorder similar to glucose transporter 2 deficiency involving both liver glycogen metabolism and renal tubular transport.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.