Research & Literature

Maturity-onset diabetes of the young (MODY): an update.

Anık A, Çatlı G, Abacı A, Böber E

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(3-4)):251-63.

Molecular mechanisms of congenital hyperinsulinism.

Rahman SA, Nessa A, Hussain K

Journal of molecular endocrinology 2015; (54(2)):R119-29 doi:10.1530/JME-15-0016.

THE EFFECT OF PHLEBOTOMY-INDUCED HEMOLYSIS ON INSULIN LEVEL DETERMINATION.

Zornitzki T, Blaychfeld-Magnazi M, Knobler H, Ulman M

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2015; (21(10)):1093-7 doi:10.4158/EP15698.OR.

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.

Recognition, assessment and management of hypoglycaemia in childhood.

Ghosh A, Banerjee I, Morris AAM

Archives of disease in childhood 2016; (101(6)):575-580 doi:10.1136/archdischild-2015-308337.

Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?

Timsit J, Saint-Martin C, Dubois-Laforgue D, Bellanné-Chantelot C

Canadian journal of diabetes 2016; (40(5)):455-461 doi:10.1016/j.jcjd.2015.12.005.

Monogenic diabetes and pregnancy.

Murphy R

Obstetric medicine 2015; (8(3)):114-20 doi:10.1177/1753495X15590713.

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.

Brahm AJ, Wang G, Wang J, et al.

Canadian journal of diabetes 2016; (40(6)):555-560 doi:10.1016/j.jcjd.2016.05.010.

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

Lebl J, Roženková K, Průhová Š

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

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.

Congenital Hyperinsulinism: Diagnosis and Treatment Update.

Demirbilek H, Hussain K

Journal of clinical research in pediatric endocrinology 2017; (9(Suppl 2)):69-87 doi:10.4274/jcrpe.2017.S007.

Safety and effectiveness, including intelligence prognosis, of diazoxide in pediatric patients with hyperinsulinemic hypoglycemia: special survey in Japan (long-term, all-case survey).

Fukutomi M, Shimodera M, Maeda Y, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2018; (27(3)):131-143 doi:10.1297/cpe.27.131.

Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome.

Church D, Cardoso L, Kay RG, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(10)):3845-3855 doi:10.1210/jc.2018-00972.

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.

The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism.

Hawkes CP, Lado JJ, Givler S, De Leon DD

JIMD reports 2019; (45()):45-50 doi:10.1007/8904_2018_140.

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.

Haliyur R, Tong X, Sanyoura M, et al.

The Journal of clinical investigation 2019; (129(1)):246-251.

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

Haddouche A, Bellanne-Chantelot C, Rod A, et al.

Journal of diabetes 2020; (12(1)):48-57 doi:10.1111/1753-0407.12959.

Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A-MODY: Watch out for winkers.

Haring MPD, Vriesendorp TM, Klein Wassink-Ruiter JS, et al.

Liver international : official journal of the International Association for the Study of the Liver 2019; (39(11)):2042-2045 doi:10.1111/liv.14235.

Novel insights into genetics and clinics of the HNF1A-MODY.

Valkovicova T, Skopkova M, Stanik J, Gasperikova D

Endocrine regulations 2019; (53(2)):110-134.

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.

Congenital hyperinsulinism due to mutations in HNF1A.

Yau D, Colclough K, Natarajan A, et al.

European journal of medical genetics 2020; (63(6)):103928 doi:10.1016/j.ejmg.2020.103928.

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.

Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism.

Brar PC, Heksch R, Cossen K, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(12)) doi:10.1210/clinem/dgaa543.

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.

Congenital Hyperinsulinism.

Sims K

NeoReviews 2021; (22(4)):e230-e240 doi:10.1542/neo.22-4-e230.

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.

Breidbart E, Deng L, Lanzano P, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(5)):633-638 doi:10.1515/jpem-2020-0501.

Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY).

Verma M, Stone SI

Endocrinology, diabetes & metabolism case reports 2022; (2022()).

Anxiety, depression, and quality of life in parents of children with congenital hyperinsulinism.

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

European journal of pediatrics 2022; (181(7)):2779-2788 doi:10.1007/s00431-022-04486-9.

Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism.

Raskin J, Pasquini TLS, Bose S, et al.

Frontiers in endocrinology 2022; (13()):886552 doi:10.3389/fendo.2022.886552.

Global Registries in Congenital Hyperinsulinism.

Pasquini TLS, Mesfin M, Schmitt J, Raskin J

Frontiers in endocrinology 2022; (13()):876903 doi:10.3389/fendo.2022.876903.

Families' Experiences of Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A Thematic Analysis.

Auckburally SH, Worth C, Salomon-Estebanez M, et al.

Frontiers in endocrinology 2022; (13()):894559 doi:10.3389/fendo.2022.894559.

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.

Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With Variants in HNF1A.

Cromer SJ, Sella AC, Rosenberg E, et al.

AACE clinical case reports 2022; (8(5)):224-230 doi:10.1016/j.aace.2022.07.004.

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL, Colclough K, Wright CF, et al.

American journal of human genetics 2022; (109(11)):2018-2028 doi:10.1016/j.ajhg.2022.09.014.

Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress.

Chen Y, Jia J, Zhao Q, et al.

International journal of molecular sciences 2022; (23(21)) doi:10.3390/ijms232113022.

Munchausen syndrome with factitious hypoglycemia due to deliberate insulin analog administration and factitious hyperglycemia in a patient with hypothyroidism.

Yukina M, Katsobashvili I, Platonova N, et al.

Clinical diabetes and endocrinology 2022; (8(1)):8 doi:10.1186/s40842-022-00145-y.

The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism.

Worth C, Dunne MJ, Salomon-Estebanez M, et al.

Frontiers in endocrinology 2022; (13()):1016072 doi:10.3389/fendo.2022.1016072.

HNF1α maintains pancreatic α and β cell functions in primary human islets.

Qian MF, Bevacqua RJ, Coykendall VM, et al.

JCI insight 2023; (8(24)).

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.

Shaikh MG, Lucas-Herald AK, Dastamani A, et al.

Frontiers in endocrinology 2023; (14()):1231043 doi:10.3389/fendo.2023.1231043.

Congenital Hyperinsulinism - Notes for the General Pediatrician.

Estebanez MS, Worth C, Banerjee I

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

First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism.

Worth C, Worthington S, Auckburally S, et al.

Journal of diabetes science and technology 2025; (19(5)):1280-1285 doi:10.1177/19322968241245923.

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.

Case report: A novel HNF1A variant linked to gestational diabetes, congenital hyperinsulinism, and diazoxide hypersensitivity.

Chandran S, Verma D, Rajadurai VS, Yap F

Frontiers in endocrinology 2024; (15()):1471596 doi:10.3389/fendo.2024.1471596.

Insulinoma With Ambiguous Biochemistry, Positive 68Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation.

Loo FJJ, Lee MKS, Huang HL, et al.

JCEM case reports 2025; (3(1)):luae232 doi:10.1210/jcemcr/luae232.

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M, Gundogdu Ogutlu OB, Nursoy H, et al.

Irish journal of medical science 2025; (194(5)):1605-1615 doi:10.1007/s11845-025-04020-4.

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers.

Pasquini TLS, Rohli KE, Almeida FJ, et al.

Frontiers in endocrinology 2025; (16()):1628125 doi:10.3389/fendo.2025.1628125.

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.

Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy.

Khan MA, Khan F, Chohan N, Alsamawi S

Cureus 2026; (18(4)):e108028 doi:10.7759/cureus.108028.

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.

Hepatic Adenomatosis: A Systematic Review of Definitions, Management, and Outcomes in Published Cases.

Stirrat T, Kim S, Bejugam D, et al.

GE Portuguese journal of gastroenterology 2026; (33(1)):606-619 doi:10.1159/pjg/acwag002.

Inpatient continuous glucose monitoring halves the risk of hypoglycemia in patients with hyperinsulinism.

Chandra C, De Silva S, Worthington S, et al.

Frontiers in endocrinology 2026; (17()):1943475 doi:10.3389/fendo.2026.1943475.