Research & Literature

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.

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Kalish JM, Boodhansingh KE, Bhatti TR, et al.

Journal of medical genetics 2016; (53(1)):53-61 doi:10.1136/jmedgenet-2015-103394.

Autocrine insulin increases plasma membrane K(ATP) channel via PI3K-VAMP2 pathway in MIN6 cells.

Xu S, Kim JH, Hwang KH, et al.

Biochemical and biophysical research communications 2015; (468(4)):752-7.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, et al.

Clinical epigenetics 2016; (8()):23 doi:10.1186/s13148-016-0183-8.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(9)):989-997 doi:10.1038/gim.2016.220.

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.

Minic M, Rocha N, Harris J, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(8)):2914-2921 doi:10.1210/jc.2017-00768.

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.

Brzezinski J, Shuman C, Choufani S, et al.

European journal of human genetics : EJHG 2017; (25(9)):1031-1039 doi:10.1038/ejhg.2017.102.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, et al.

Nature reviews. Endocrinology 2018; (14(4)):229-249 doi:10.1038/nrendo.2017.166.

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Stutterd C, McGillivray G, Stark Z, et al.

European journal of medical genetics 2018; (61(12)):738-740 doi:10.1016/j.ejmg.2018.06.002.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Parker VER, Keppler-Noreuil KM, Faivre L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(5)):1189-1198 doi:10.1038/s41436-018-0297-9.

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome.

Mussa A, Duffy KA, Carli D, et al.

Pediatric blood & cancer 2019; (66(1)):e27492 doi:10.1002/pbc.27492.

The Incidence and Etiology of Previously Undiagnosed Hypoglycemic Disorders in the Emergency Department.

White K, Truong L, Aaron K, et al.

Pediatric emergency care 2020; (36(7)):322-326 doi:10.1097/PEC.0000000000001634.

Serum α-fetoprotein in pediatric oncology: not a children's tale.

Ferraro S, Panzeri A, Braga F, Panteghini M

Clinical chemistry and laboratory medicine 2019; (57(6)):783-797 doi:10.1515/cclm-2018-0803.

Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

Kusz M, Bieniaś B, Wieczorkiewicz-Płaza A, et al.

Medicine 2019; (98(7)):e14529 doi:10.1097/MD.0000000000014529.

A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis.

Hanafusa H, Morisada N, Nomura T, et al.

Human genome variation 2019; (6()):31 doi:10.1038/s41439-019-0063-9.

Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study.

Vaiman M, Shilco P, Roitblat Y, et al.

Central Asian journal of global health 2019; (8(1)):336 doi:10.5195/cajgh.2019.336.

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.

Mussa A, Duffy KA, Carli D, et al.

Journal of cancer research and clinical oncology 2019; (145(12)):3115-3123 doi:10.1007/s00432-019-03038-3.

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

McNulty SN, Evenson MJ, Corliss MM, et al.

American journal of human genetics 2019; (105(4)):734-746 doi:10.1016/j.ajhg.2019.09.002.

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome.

Urzua A, Burattini S, Pinochet C, et al.

Journal of pediatric genetics 2019; (8(4)):226-230 doi:10.1055/s-0039-1692197.

Higher C-peptide levels and glucose requirements may identify neonates with transient hyperinsulinism hypoglycemia who will benefit from diazoxide treatment.

Davidov AS, Elkon-Tamir E, Haham A, et al.

European journal of pediatrics 2020; (179(4)):597-602 doi:10.1007/s00431-019-03544-z.

The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway

Şıklar Z, Çetin T, Çakar N, Berberoğlu M

Journal of clinical research in pediatric endocrinology 2020; (12(4)):439-443 doi:10.4274/jcrpe.galenos.2020.2019.0084.

A comparison of the glycemic effects of glucagon using two dose ranges in neonates and infants with hypoglycemia.

Godin R, Taboada M, Kahn DJ

Journal of perinatology : official journal of the California Perinatal Association 2020; (40(12)):1841-1848 doi:10.1038/s41372-020-00770-4.

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.

Quindipan C, Cotter JA, Ji J, et al.

Pediatric neurology 2021; (114()):55-59 doi:10.1016/j.pediatrneurol.2020.09.015.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Garde A, Guibaud L, Goldenberg A, et al.

Clinical genetics 2021; (99(5)):650-661 doi:10.1111/cge.13918.

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.

Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.

Maines E, Franceschi R, Martinelli D, et al.

Hormones (Athens, Greece) 2021; (20(4)):623-640 doi:10.1007/s42000-021-00287-1.

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Douzgou S, Rawson M, Baselga E, et al.

Clinical genetics 2022; (101(1)):32-47 doi:10.1111/cge.14027.

The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia.

Vijayanand S, Stevenson PG, Grant M, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(12)):1567-1572 doi:10.1515/jpem-2021-0414.

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

Dushar M, Nowaczyk J, Pyrżak B, et al.

European journal of medical genetics 2021; (64(12)):104368 doi:10.1016/j.ejmg.2021.104368.

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

Al Shidhani A, Al Hinai A, Al Thihli K, et al.

Journal of clinical research in pediatric endocrinology 2023; (15(3)):302-306 doi:10.4274/jcrpe.galenos.2021.2021.0173.

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.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A, Leoni C, Iacoviello M, et al.

Journal of medical genetics 2023; (60(2)):163-173 doi:10.1136/jmedgenet-2021-108093.

Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene.

Ochoa Molina MF, Poggi H, De Toro V, et al.

AACE clinical case reports 2022; (8(3)):109-112 doi:10.1016/j.aace.2021.11.006.

[Tumor predisposition syndromes and nephroblastoma : Early diagnosis with imaging].

Welter N, Furtwängler R, Schneider G, et al.

Radiologie (Heidelberg, Germany) 2022; (62(12)):1033-1042 doi:10.1007/s00117-022-01056-w.

Dynamic magnetic resonance imaging findings in the early stages of neonatal hypoglycemic brain injury.

Zhang Y, Chen D, Ji Y, et al.

European journal of pediatrics 2022; (181(12)):4167-4174 doi:10.1007/s00431-022-04637-y.

Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases.

Romaris MJ, Caino S, Adamo P, Fano V

Archivos argentinos de pediatria 2022; (120(6)):405-414 doi:10.5546/aap.2022.eng.405.

A Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report.

Yusuf IQ, Venkatesan A, Okafor FC, et al.

Cureus 2023; (15(3)):e36018 doi:10.7759/cureus.36018.

Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.

Hailu SS, Zewdneh D, Hailu D, Hailemariam T

Radiology case reports 2023; (18(9)):2966-2970 doi:10.1016/j.radcr.2023.06.025.

FDA Approval Summary: Alpelisib for PIK3CA-Related Overgrowth Spectrum.

Singh S, Bradford D, Li X, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(1)):23-28 doi:10.1158/1078-0432.CCR-23-1270.

Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.

Głowska-Ciemny J, Szymanski M, Kuszerska A, et al.

Cancers 2023; (15(17)) doi:10.3390/cancers15174302.

Successful Treatment of Hypoglycemia With Alpelisib in Pediatric Patients With PIK3CA-Related Overgrowth Spectrum.

Nasomyont N, Rutter MM, Backeljauw PF

JCEM case reports 2023; (1(2)):luad027 doi:10.1210/jcemcr/luad027.

Management of Macroglossia Secondary to Beckwith-Weidmann Syndrome in a Pediatric Patient: A Case Report.

Solanki D, Fulzele P, Bhola N

Cureus 2023; (15(10)):e46579 doi:10.7759/cureus.46579.

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

de Kock L, Cuillerier A, Gillespie M, et al.

American journal of medical genetics. Part A 2024; (194(3)):e63466 doi:10.1002/ajmg.a.63466.

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Welters A, Leiter SM, Bachmann N, et al.

Orphanet journal of rare diseases 2023; (18(1)):360 doi:10.1186/s13023-023-02954-5.

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

Gazzin A, Leoni C, Viscogliosi G, et al.

Genes 2023; (14(12)) doi:10.3390/genes14122134.

Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat-modified starch.

Parker M, Yau D

Clinical case reports 2024; (12(2)):e8473 doi:10.1002/ccr3.8473.

Diagnostic Yield of Critical Sample and Elective Fast-Test in Children After a Hypoglycemic Event: Experience From a Single Center in Israel.

Carmon L, Hazan R, Hershkovitz E, et al.

Indian pediatrics 2024; (61(4)):348-351.

Neonatal Hypoglycemia.

Edmundson K, Jnah AJ

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

Transient Neonatal Hypocortisolism in Neonates with Hypoglycemia - Coexistence or Cause?

Mondal S, Nagendra L, Chowdhury AS, et al.

Indian journal of endocrinology and metabolism 2024; (28(2)):145-152 doi:10.4103/ijem.ijem_158_23.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Bellucca S, Carli D, Gazzin A, et al.

The Journal of pediatrics 2024; (274()):114177 doi:10.1016/j.jpeds.2024.114177.

Continuous Glucose Monitoring-Derived Glycemic Phenotyping of Childhood Hypoglycemia Due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study.

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

Journal of diabetes science and technology 2025; (19(6)):1528-1537 doi:10.1177/19322968241255842.

PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.

Andrade BP, Hierro F, Castro J, et al.

Pediatric neurology 2025; (163()):12-14 doi:10.1016/j.pediatrneurol.2024.11.002.

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.

Imamovic M, Vågberg M, Cederquist K, Dahlqvist P

JCEM case reports 2024; (2(12)):luae221 doi:10.1210/jcemcr/luae221.

Exploring the long-term impacts of neonatal hypoglycemia to determine a safe threshold for glucose concentrations.

Garg M, Devaskar SU

European journal of pediatrics 2025; (184(4)):263.

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report.

Saito T, Soma K, Kashisaka M, et al.

JIMD reports 2025; (66(3)):e70014 doi:10.1002/jmd2.70014.

Recommendations on the Collection of Comparator Measurement Data in the Performance Evaluation of Continuous Glucose Monitoring Systems.

Freckmann G, Pleus S, Eichenlaub M, et al.

Journal of diabetes science and technology 2025; (19(4)):1072-1081 doi:10.1177/19322968251336221.

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism.

Smith RL, Stone SI

Endocrinology, diabetes & metabolism case reports 2025; (2025(3)).

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase 2 deficiency with severe hyperglycemia in a child: A rare case report.

Dong C, Lu T, Jiang Y, et al.

The Journal of international medical research 2025; (53(9)):3000605251375537 doi:10.1177/03000605251375537.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Russo S, Milani D, Meossi C, et al.

Italian journal of pediatrics 2025; (51(1)):287 doi:10.1186/s13052-025-02131-3.

Practice Variations in Pediatric Hypoglycemia Management: A Survey of Emergency Medicine Physicians.

Keenan K, Calleo V, Wojcik S, Thornton M

Cureus 2025; (17(12)):e98399 doi:10.7759/cureus.98399.

A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.

Turnovec M, Bubeníková A, Rýdlo O, et al.

American journal of medical genetics. Part A 2026; (200(8)):1890-1896 doi:10.1002/ajmg.a.70138.

Improving clinical interpretation of serum alpha-fetoprotein in children: using continuous and discrete reference intervals.

Tran DM, Phan PH, Cao TV, et al.

Clinical chemistry and laboratory medicine 2026; (64(8)):1838-1848 doi:10.1515/cclm-2026-0262.

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.

Current status of genetic testing and mosaic variant assessment in somatic overgrowth and vascular anomalies: Insights from the Cancer Genomics Consortium Working Group.

Dharmadhikari AV, Myers CT, King KA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2026; (28(11)):102686 doi:10.1016/j.gim.2026.102686.

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Grünert SC, Bhattacharya K, Karall D, et al.

Journal of inherited metabolic disease 2026; (49(5)):e70251 doi:10.1002/jimd.70251.

Hypoinsulinemic hypoglycemia with hemihypertrophy in a Filipino infant: management in a resource-limited setting.

Perez EGM, Estrada SC

JCEM case reports 2026; (4(11)):luag231 doi:10.1210/jcemcr/luag231.

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.