Research & Literature

Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.

Numakura C, Hashimoto Y, Daitsu T, et al.

Diabetes research and clinical practice 2015; (108(3)):e53-5.

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

Rozenkova K, Malikova J, Nessa A, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(12)):E1540-9 doi:10.1210/jc.2015-2763.

Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children.

Ferrara C, Patel P, Becker S, et al.

The Journal of pediatrics 2016; (168()):212-219 doi:10.1016/j.jpeds.2015.09.045.

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

Improda N, Shah P, Güemes M, et al.

Hormone research in paediatrics 2016; (86(5)):337-341 doi:10.1159/000446396.

Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.

Bacon S, Kyithar MP, Condron EM, et al.

Acta diabetologica 2016; (53(6)):965-972 doi:10.1007/s00592-016-0890-9.

[Congenital hyperinsulinism: Loss of B-cell self-control].

Lebl J, Roženková K, Průhová Š

Vnitrni lekarstvi 2016; (62(11 Suppl 4)):S72-76.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Stanik J, Skopkova M, Brennerova K, et al.

Diabetes research and clinical practice 2017; (126()):144-150 doi:10.1016/j.diabres.2017.02.014.

Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia.

Sakakibara A, Hashimoto Y, Kawakita R, et al.

Pediatric diabetes 2018; (19(2)):259-264 doi:10.1111/pedi.12548.

Development of Pulmonary Hypertension During Treatment with Diazoxide: A Case Series and Literature Review.

Timlin MR, Black AB, Delaney HM, et al.

Pediatric cardiology 2017; (38(6)):1247-1250 doi:10.1007/s00246-017-1652-3.

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study.

Helleskov A, Melikyan M, Globa E, et al.

Frontiers in endocrinology 2017; (8()):156 doi:10.3389/fendo.2017.00156.

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Tung JY, Boodhansingh K, Stanley CA, De León DD

Pediatric diabetes 2018; (19(5)):910-916 doi:10.1111/pedi.12655.

HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.

Liu J, Shen Q, Li G, Xu H

Journal of medical case reports 2018; (12(1)):203 doi:10.1186/s13256-018-1740-x.

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants.

Huerta-Saenz L, Saunders C, Yan Y

International journal of pediatric endocrinology 2018; (2018()):5 doi:10.1186/s13633-018-0060-7.

Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia.

Banerjee I, Salomon-Estebanez M, Shah P, et al.

Diabetic medicine : a journal of the British Diabetic Association 2019; (36(1)):9-21 doi:10.1111/dme.13823.

Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide.

Herrera A, Vajravelu ME, Givler S, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(12)):4365-4372 doi:10.1210/jc.2018-01613.

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children.

Adzick NS, De Leon DD, States LJ, et al.

Journal of pediatric surgery 2019; (54(1)):27-32 doi:10.1016/j.jpedsurg.2018.10.030.

Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation.

Arya VB, Kalitsi J, Hickey A, et al.

Endocrinology, diabetes & metabolism case reports 2019; (2019()).

HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells.

Ng NHJ, Jasmen JB, Lim CS, et al.

iScience 2019; (16()):192-205 doi:10.1016/j.isci.2019.05.032.

Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism.

De Cosio AP, Thornton P

Paediatric drugs 2019; (21(3)):123-136 doi:10.1007/s40272-019-00334-w.

Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom.

Chen SC, Dastamani A, Pintus D, et al.

Clinical endocrinology 2019; (91(6)):770-775 doi:10.1111/cen.14096.

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

Yau D, Laver TW, Dastamani A, et al.

PloS one 2020; (15(2)):e0228417 doi:10.1371/journal.pone.0228417.

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC, Snowsill T, Houghton JAL, et al.

Clinical chemistry 2020; (66(7)):958-965 doi:10.1093/clinchem/hvaa104.

A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family.

Chandran S, Rajadurai VS, Hoi WH, et al.

Frontiers in pediatrics 2020; (8()):320 doi:10.3389/fped.2020.00320.

Efficacy and safety of octreotide treatment for diazoxide-unresponsive congenital hyperinsulinism in China.

Cao B, Di W, Su C, et al.

Pediatric investigation 2020; (4(1)):29-36 doi:10.1002/ped4.12175.

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.

Vlachopapadopoulou EA, Dikaiakou E, Fotiadou A, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(4)):527-530 doi:10.1515/jpem-2020-0302.

Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.

Lemaire M

American journal of physiology. Renal physiology 2021; (320(2)):F145-F160 doi:10.1152/ajprenal.00214.2020.

Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism.

Roeper M, Salimi Dafsari R, Hoermann H, et al.

Frontiers in endocrinology 2020; (11()):580642 doi:10.3389/fendo.2020.580642.

Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.

Chen X, Feng L, Yao H, et al.

PloS one 2021; (16(2)):e0246463 doi:10.1371/journal.pone.0246463.

Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.

Raicevic M, Milenkovic T, Hussain K, et al.

European journal of pediatrics 2021; (180(9)):2815-2821 doi:10.1007/s00431-021-04051-w.

The Term Newborn: Hypoglycemia.

Hubbard EM, Hay WW

Clinics in perinatology 2021; (48(3)):665-679 doi:10.1016/j.clp.2021.05.013.

"Please see this man with a 69-year history of hypoglycaemia".

Gifford RM, Foteinopoulou E, Strachan MWJ

The journal of the Royal College of Physicians of Edinburgh 2021; (51(3)):266-268 doi:10.4997/JRCPE.2021.312.

Reliability and Observer Dependence of Signs of Neonatal Hypoglycemia.

Hoermann H, Mokwa A, Roeper M, et al.

The Journal of pediatrics 2022; (245()):22-29.e2 doi:10.1016/j.jpeds.2022.02.045.

Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.

Perge K, Nicolino M

Reviews in endocrine & metabolic disorders 2022; (23(5)):1063-1078 doi:10.1007/s11154-022-09749-2.

Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.

Krawczyk S, Urbanska K, Biel N, et al.

Journal of clinical medicine 2022; (11(20)) doi:10.3390/jcm11206020.

Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome.

Souabni SA, Harvengt A, Legat C, Lysy PA

Clinical case reports 2023; (11(6)):e7336 doi:10.1002/ccr3.7336.

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Grassi M, Laubscher B, Pandey AV, et al.

Molecular syndromology 2023; (14(4)):347-361 doi:10.1159/000529306.

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.

Wolschendorf R, Eimicke T, Swartz J

JCEM case reports 2023; (1(4)):luad089 doi:10.1210/jcemcr/luad089.

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Kaci A, Solheim MH, Silgjerd T, et al.

Human molecular genetics 2024; (33(10)):894-904 doi:10.1093/hmg/ddae027.

Congenital Hyperinsulinism - Notes for the General Pediatrician.

Estebanez MS, Worth C, Banerjee I

Indian pediatrics 2024; (61(6)):578-584.

Neonatal Hypoglycemia.

Edmundson K, Jnah AJ

Neonatal network : NN 2024; (43(3)):156-164 doi:10.1891/NN-2023-0068.

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Kind L, Molnes J, Tjora E, et al.

JCI insight 2024; (9(11)).

The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.

Pasquini TLS, Lapidus D, De León DD, et al.

Hormone research in paediatrics 2025; (98(5)):566-573 doi:10.1159/000539464.

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes.

Crowley MT, Paponette B, Bacon S, Byrne MM

Frontiers in genetics 2024; (15()):1362977 doi:10.3389/fgene.2024.1362977.

Biomarkers and Diagnostic Thresholds for Congenital Hyperinsulinism.

Petkovic G, Park J, Collingwood C, et al.

Clinical endocrinology 2025; (102(2)):129-135 doi:10.1111/cen.15137.

Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.

Fujii Y, Matsumura H, Murayama K, et al.

CEN case reports 2025; (14(2)):291-296 doi:10.1007/s13730-024-00948-1.

Octreotide efficacy and safety in children with hyperinsulinism: evidence from two Chinese centers.

Ni J, Cao B, Zeng H, et al.

European journal of pediatrics 2024; (184(1)):33 doi:10.1007/s00431-024-05884-x.

Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY).

Maly J, Urbanova J, Musil V, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(6)):570-576 doi:10.1515/jpem-2025-0042.

Balancing metabolism and regeneration in liver diseases through HNF4α targeting.

Van Dender C, Vandewalle J, Libert C

Trends in endocrinology and metabolism: TEM 2026; (37(1)):83-98 doi:10.1016/j.tem.2025.04.003.

Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.

De Sousa SM, Davis TM, Harraway J, et al.

The Medical journal of Australia 2025; (223(9)):484-491 doi:10.5694/mja2.52717.

Diazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A Mutation

Sotiriou G, Xinias S, Diamantidou V, et al.

Journal of clinical research in pediatric endocrinology 2025; doi:10.4274/jcrpe.galenos.2025.2025-4-12.

Advances in Pharmacotherapy for Congenital Hyperinsulinism.

González-Llorens N, Yau D, León MC, et al.

Paediatric drugs 2026; (28(1)):15-29 doi:10.1007/s40272-025-00727-0.

Necrotizing enterocolitis following a single very low dose of octreotide in a patient with congenital hyperinsulinism: a case successfully managed with 18F-DOPA PET/CT-guided surgery.

Uehara T, Mizutani H, Hatabu N, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2026; (35(1)):92-97 doi:10.1297/cpe.2025-0023.

From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.

Wong T, Chan D, Chua C, et al.

Frontiers in pharmacology 2026; (17()):1781424 doi:10.3389/fphar.2026.1781424.

Antenatal management of HNF4A-MODY and INSR mutations in pregnancy.

Wu K, Russell H, Rodrigo N

JCEM case reports 2026; (4(6)):luag090 doi:10.1210/jcemcr/luag090.

Neonatal Hyperinsulinemia and Maternal Diabetes Associated With a Hepatocyte Nuclear Factor 4 Alpha (HNF4A) Variant.

Takasugi Y, Nakagawa R, Ono H, et al.

Cureus 2026; (18(4)):e107058 doi:10.7759/cureus.107058.

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).

Dubois-Laforgue D, Donadille B, Ciangura C, et al.

Orphanet journal of rare diseases 2026; (17(Suppl 1)).

Feeding practices and nutritional management of infants with transient and congenital hyperinsulinism: A tertiary single-center retrospective study.

Cheng L, O'Connor G, Harris E, et al.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2026; (41(5)):1466-1475 doi:10.1002/ncp.70146.

The impact of subtotal pancreatectomy on people with congenital hyperinsulinism and their caregivers.

Rohli KE, Banerjee I, Christesen HT, et al.

Frontiers in endocrinology 2026; (17()):1787064 doi:10.3389/fendo.2026.1787064.

Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.

Emma F, Böckenhauer D, Mallett AJ, et al.

Kidney international reports 2026; (11(8)):106616 doi:10.1016/j.ekir.2026.106616.