The DOI matches its Crossref record; 102 of the 104 references it cites were found in a registry or an index.
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders
Open accessAbstract
CONTEXT: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children. The risk of permanent brain injury in infants with HI continues to be as high as 25-50% due to delays in diagnosis and inadequate treatment. Congenital HI has been described since the birth of the JCEM under various terms, including "idiopathic hypoglycemia of infancy," "leucine-sensitive hypoglycemia," or "nesidioblastosis." EVIDENCE ACQUISITION: In the past 20 years, it has become apparent that HI is caused by genetic defects in the pathways that regulate pancreatic β-cell insulin secretion. EVIDENCE SYNTHESIS: There are now 11 genes associated with monogenic forms of HI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1), as well as several syndromic genetic forms of HI (eg, Beckwith-Wiedemann, Kabuki, and Turner syndromes). HI is also the cause of hypoglycemia in transitional neonatal hypoglycemia and in persistent hypoglycemia in various groups of high-risk neonates (such as birth asphyxia, small for gestational age birthweight, infant of diabetic mother). Management of HI is one of the most difficult problems faced by pediatric endocrinologists and frequently requires difficult choices, such as near-total pancreatectomy and/or highly intensive care with continuous tube feedings. For 50 years, diazoxide, a KATP channel agonist, has been the primary drug for infants with HI; however, it is ineffective in most cases with mutations of ABCC8 or KCNJ11, which constitute the majority of infants with monogenic HI. CONCLUSIONS: Genetic mutation testing has become standard of care for infants with HI and has proven to be useful not only in projecting prognosis and family counseling, but also in diagnosing infants with surgically curable focal HI lesions. (18)F-fluoro-L-dihydroxyphenylalanine ((18)F-DOPA) PET scans have been found to be highly accurate for localizing such focal lesions preoperatively. New drugs under investigation provide hope for improving the outcomes of children with HI.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“While the pathophysiology of persistent hyperinsulinemic hypoglycemia in childhood and infancy, which is morphologically similar to NIPHS, is well understood from a genetic and functional point of view, mechanistic data on adult-onset NIPHS is scarce [49].”
From An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS) (2023) · cites this paper as [49]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Loss-of-function mutations cause congenital hyperinsulinism because they result in permanent membrane depolarization and persistent insulin release (479, 644, 681).”
From Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men (2018) · cites this paper as [644]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Immunoassay of endogenous plasma insulin in man
Yalow, R. S., & Berson, S. A. (1960) · Journal of Clinical Investigation · doi:10.1172/jci104130 · Cited by 3,041
Cloning of the β Cell High-Affinity Sulfonylurea Receptor: a Regulator of Insulin Secretion
Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., Boyd, A. E., González, G., Herrera-Sosa, H., Nguy, K., Bryan, J., & Nelson, D. A. (1995) · Science · doi:10.1126/science.7716547 · Cited by 1,315
Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J. (1995) · Science · doi:10.1126/science.7716548 · Cited by 806
Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., & Poncz, M. (1998) · New England Journal of Medicine · doi:10.1056/nejm199805073381904 · Cited by 676
Self-citationThornton, P. S., Stanley, C. A., De Leon, D. D., Harris, D., Haymond, M. W., Hussain, K., Levitsky, L. L., Murad, M. H., Rozance, P. J., Simmons, R. A., et al. (2015) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.03.057 · Cited by 625 · cited 2×
“of infants with congenital HI and other persistent hypoglycemia disorders during the first 2 days of life (86).”
BackgroundSelf-citationFamilial Hyperinsulinism Caused by an Activating Glucokinase Mutation
Gläser, B., Kesavan, P., Heyman, M., Davis, E. A., Cuesta, A. L., Buchs, A. E., Stanley, C. A., THORNTON, P. S., Permutt, M. A., Matschinsky, F. M., et al. (1998) · New England Journal of Medicine · doi:10.1056/nejm199801223380404 · Cited by 563
Self-citationGenetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy
Valin, P. S., Proverbio, M. C., Diceglie, C., Gessi, A., Candia, S. D., Mariani, B., Zamproni, I., Mangano, E., Asselta, R., Battaglia, C., et al. (2013) · Hormone Research in Paediatrics · doi:10.1159/000350827 · Cited by 552
IMMUNOASSAY OF ENDOGENOUS PLASMA INSULIN IN MAN
Yalow, R. S., & Berson, S. A. (1996) · Obesity Research · doi:10.1002/j.1550-8528.1996.tb00274.x · Cited by 459
Thomas, P. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1809 · Cited by 443
Pearson, E. R., Boj, S. F., Steele, A. M., Barrett, T. G., Stals, K. L., Hamilton-Shield, J. P., Ellard, S., Ferrer, J. P., & Hattersley, A. T. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040118 · Cited by 435
Flagged first, then by citations
2 of the 104 references couldn’t be matched to a known paper.
Research works printed but not linked: 4
- Hartmann AF, Jaudon JC. Hypoglycemia. J Pediatr. 1937;11:1-36.
- Yakovac WC, Baker L, Hummeler K.  Cell nesidioblastosis in id- iopathic hypoglycemia of infancy. J Pediatr. 1971;79:226 -231.
- Suchi M, Thornton PS, Adzick NS, et al. Congenital hyperinsulin- ism: intraoperative biopsy interpretation can direct the extent of pancreatectomy. Am J Surg Pathol. 2004;28:1326 -1335.
- Meissner T, Otonkoski T, Feneberg R, et al. Exercise induced hy- poglycaemic hyperinsulinism. Arch Dis Child. 2001;84:254 -257.
Cited by
Sorted by citations
Items 101–200 of 236
Hypoglycemia in the Newborn and Infant
León, D. D. D., THORNTON, P. S., Stanley, C. A., & Sperling, M. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00007-5 · Cited by 8
Self-citationHyperinsulinemic hypoglycemia in adolescents: case report and systematic review
Castillo-López, M. G., Fernandez, M., Sforza, N., Barbás, N. C., Pattin, F. F., Méndez, G. R., Ogresta, F., Gondolesi, I., Schelotto, P. B., Musso, C., et al. (2022) · Clinical Diabetes and Endocrinology · doi:10.1186/s40842-022-00138-x · Cited by 8
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective
Dastamani, A., Yau, D., Gilbert, C., Morgan, K., Coppi, P. D., Craigie, R., Bomanji, J. B., Biassoni, L., Sajjan, R. S., Flanagan, S. E., et al. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac033 · Cited by 8
“KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A, PGM1, PMM2, and CACNA1D) have been reported in up to 40% of CHI patients [1, 8-11] with the underlying genetic etiology unknown in the majority of cases.”
Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective
Chen, L., Zhang, Y., Li, J., Wang, S., Zhang, Y., Huang, T., & Cai, Y. (2017) · Genes · doi:10.3390/genes8120392 · Cited by 8
“Recent publications further confirmed that GCK may be associated with non-insulin-dependent diabetes mellitus [73,74], maturity-onset diabetes of the young, type 2 [74], and persistent hyperinsulinemic hypoglycemia of infancy [75], thereby validating the potential biological contributions of obesity to this endocrine…”
BackgroundAl-Ameer, A. H., Alsomali, A., & Habib, Z. (2023) · Pediatric Surgery International · doi:10.1007/s00383-023-05470-6 · Cited by 7
“frequency of the disease is reported as one in 50,000 live births, but in highly consanguineous communities, it can reach as high as one in 2500 live births [11, 14].”
Razzaghy‐Azar, M., Saeedi, S., Dayani, S. B., Enayati, S., Abbasi, F., Hashemian, S., Eshraghi, P., Karimdadi, S., Tajdini, P., Vakili, R., et al. (2021) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2021.2021.0071 · Cited by 7
“This subtype results from a heterozygous paternal mutation in ABCC8/KCNJ11 and somatic loss of maternal chromosome 11p15 in the focal pancreatic lesion (9).”
BackgroundZhang, W., & Sang, Y. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02088-6 · Cited by 7
“Specific diagnostic indicators of CHI are available in the CHI guidelines (Table 2) [42].”
MethodSims, K. (2021) · NeoReviews · doi:10.1542/neo.22-4-e230 · Cited by 7
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome
Bayat, A., Kirchhoff, M., Madsen, C. G., & Kreiborg, S. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.03.009 · Cited by 7
Chen, Y., Zhou, Y., Wei, X., Yang, Y., Li, X.-J., Xu, Y.-J., Liu, C., & Chen, Z.-Y. (2021) · Toxicon · doi:10.1016/j.toxicon.2021.08.017 · Cited by 7
Insulinoma Due to Multiple Pancreatic Microadenoma Localized by Multimodal Imaging.
Babic, B., Keutgen, X., Nockel, P., Miettinen, M., Millo, C., Herscovitch, P., Patel, D., Nilubol, N., Cochran, C., Gorden, P., et al. (2016) · Journal of Clinical Endocrinology and Metabolism · doi:10.1210/jc.2016-2717 · Cited by 7
Yap, K. L., Johnson, A. E. K., Fischer, D., Kandikatla, P., Deml, J., Nelakuditi, V., Halbach, S. S., Jeha, G. S., Burrage, L. C., Bodamer, O. A., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.2.2 · Cited by 6
Methods for Characterizing Disease-Associated ATP-Sensitive Potassium Channel Mutations
Kandasamy, B., & Shyng, S. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7362-0_8 · Cited by 7
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death
Chinoy, A., Banerjee, I., Flanagan, S. E., Ellard, S., Han, B., Mohamed, Z., Dunne, M. J., & Bitetti, S. (2018) · Pediatric and Developmental Pathology · doi:10.1177/1093526618765376 · Cited by 6
Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation
Takasawa, K., Miyakawa, Y., Saito, Y., Adachi, E., Shidei, T., Sutani, A., Gau, M., Nakagawa, R., Taki, A., Kashimada, K., et al. (2021) · Clinical Endocrinology · doi:10.1111/cen.14443 · Cited by 6
Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation
Jannin, A., Espiard, S., Douillard, C., Pasquier, F., Bellanné‐Chantelot, C., & Vantyghem, M. (2018) · La Presse Médicale · doi:10.1016/j.lpm.2018.02.015 · Cited by 6
“Somatostatin analogues, glucagon or pancreatectomymay be effective in diazoxide-unresponsive CHI [1].”
BackgroundInfluentialDieterle, M. P., Husari, A., Prozmann, S. N., Wiethoff, H., Stenzinger, A., Röhrich, M., Pfeiffer, U., Kießling, W. R., Engel, H., Sourij, H., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11061741 · Cited by 5
“While the pathophysiology of persistent hyperinsulinemic hypoglycemia in childhood and infancy, which is morphologically similar to NIPHS, is well understood from a genetic and functional point of view, mechanistic data on adult-onset NIPHS is scarce [49].”
BackgroundNeonatal hyperinsulinism in transient and classical forms of tyrosinemia
Sethuram, S., Sperling, M. A., Gujral, J., & Romero, C. J. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01642-y · Cited by 5
“There are various etiologies of congenital hyperinsulinism, which include eleven monogenic forms as well as milder episodes as seen in infants with transient perinatal stress and prematurity [18].”
BackgroundCase report: Congenital hyperinsulinemia with ABCC8 gene mutations
Zhang, J., Wang, J., & Chen, H. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.914267 · Cited by 5
Genome-edited zebrafish model of ABCC8 loss-of-function disease
Iklé, J. M., Tryon, R. C., Singareddy, S. S., York, N., Remedi, M. S., & Nichols, C. G. (2022) · Islets · doi:10.1080/19382014.2022.2149206 · Cited by 5
Joyce, C. M., Houghton, J., O’Halloran, D., O’Shea, P. M., & O'Connell, S. M. (2020) · Clinical Case Reports · doi:10.1002/ccr3.2885 · Cited by 5
Hypoglycemia in the Toddler and Child
Wolfsdorf, J. I., & Stanley, C. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00023-3 · Cited by 5
Self-citationApperley, L. J., Giri, D., Houghton, J., Flanagan, S. E., Didi, M., & Senniappan, S. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0389 · Cited by 5
Pasquini, T. L. S., Rohli, K. E., Almeida, F. J., Banerjee, I., Dastamani, A., León, D. D. D., Lopez, L. N., THORNTON, P. S., & Raskin, J. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1628125 · Cited by 4
“Diazoxide blunts insulin secretion by activating ATP-sensitive potassium (K ATP ) channels and hyperpolarizing the b -cell plasma membrane (10, 11).”
Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations
Sabi, S. H., Alzreqat, R. K., Almaaytah, A. M., Masaadeh, M. M., & Abualhaijaa, A. (2024) · Diabetes Metabolic Syndrome and Obesity · doi:10.2147/dmso.s482056 · Cited by 4
“14 As a result of the absence of the channel, the beta cell membrane will stay in the depolarizing status, such as when it is present and enclosed in response to the (ATP), so this will lead to an uncontrolled continuous insulin secretion of insulin.”
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1
Stiers, K. M., Hansen, R. P., Daghlas, B. A., Mason, K. N., Zhu, J., Jakeman, D. L., & Beamer, L. J. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12222 · Cited by 4
Sugawara, D., Matsuura, M., Sato, H., Ohashi, H., & Ichihashi, K. (2021) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.30.133 · Cited by 4
Oza, C. M., Khadilkar, V. V., Kadam, S., & Khadilkar, A. (2022) · BMJ Case Reports · doi:10.1136/bcr-2022-252708 · Cited by 4
Disorders of Carbohydrate Metabolism
Werny, D. M., Taplin, C. E., Bennett, J. T., & Pihoker, C. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-40139-5.00099-1 · Cited by 4
Huerta‐Saenz, L., Saunders, C., & Yan, Y. (2018) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-018-0060-7 · Cited by 4
“In 2016, there were 11 genes known to be associated with monogenic forms of CHI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, and PGM1) [4, 5].”
BackgroundInoue, C., Nishihama, K., Hayasaki, A., Okano, Y., Hayashi, A., Eguchi, K., Uemura, M., Suzuki, T., Yasuma, T., Inoue, T., et al. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.731071 · Cited by 4
“Depolarization of the cell membrane activates the voltage-dependent calcium channels leading to increased intracellular calcium levels, which ultimately triggers calcium-dependent exocytosis of insulin (23).”
BackgroundInfluentialCentral venous catheter-associated thrombosis in children with congenital hyperinsulinism
Yau, D., Salomon‐Estebanez, M., Chinoy, A., Grainger, J., Craigie, R., Padidela, R., Skae, M. S., Dunne, M. J., Murray, P. G., & Banerjee, I. (2019) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-19-0032 · Cited by 4
Velasco, K., St‐Louis, J. L., Hovland, H. N., Thompson, N., Ottesen, Å., Choi, M. H., Pedersen, L., Njølstad, P. R., Arnesen, T., Fjeld, K., et al. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12309 · Cited by 4
“CHI is a disease characterized by inappropriately elevated plasma concentrations of insulin, resulting in episodes of hypoglycemia that may become life-threatening if not treated correctly.(13,14) The gnomAD data set contains 155 HADH missense variants, of which 154 are rare with an allele frequency < 0.”
BackgroundCongenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study
Tagliaferri, F., Iannuzzi, R., Canciani, G., Bernabei, S. M., Campana, C., Caviglia, S., Greco, B., Lepri, F. R., Novelli, A., Pizzoferro, M., et al. (2024) · Hormone Research in Paediatrics · doi:10.1159/000538943 · Cited by 3
“Mutations in all the other genes are associated with diffuse forms [7, 10].”
Hiperinsulinismo congénito del recién nacido: A propósito de un caso clínico
Josefina Sáez, B., Pattillo, J. C., Orellana, P., & Godoy, C. (2017) · Revista chilena de pediatría · doi:10.4067/s0370-41062017000300010 · Cited by 3
Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy
Sidler, M., Shah, P., Ashworth, M. T., & Coppi, P. D. (2018) · Journal of Pediatric Surgery Case Reports · doi:10.1016/j.epsc.2018.10.018 · Cited by 3
“Patients who do not respond to medical treatment require partial or near-total pancreatectomy for focal or diffuse HI, respectively [4].”
BackgroundCongenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case
Shono, T., Shono, K., Hashimoto, Y. K., Taguchi, S., Masuda, M., Muramori, K., & Taguchi, T. (2020) · Surgical Case Reports · doi:10.1186/s40792-020-0778-3 · Cited by 3
A Sensitive Plasma Insulin Immunoassay to Establish the Diagnosis of Congenital Hyperinsulinism
Siersbæk, J., Larsen, A. R., Nybo, M., & Christesen, H. T. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.614993 · Cited by 3
“9 mmol/L (>70 mg/dl) (2), to avoid brain damage.”
BackgroundAmaratunga, S. A., Tayeb, T. H., Roženková, K., Kučerová, P., Průhová, Š., & Lebl, J. (2020) · Hormone Research in Paediatrics · doi:10.1159/000506476 · Cited by 3
Pedraza-Flechas, P. V., Pereira-Ospina, R. D. P., Molinares-Mejía, J. S., Suescún-Vargas, J. M., & Pinzón-Salamanca, J. Y. (2020) · Boletín Médico del Hospital Infantil de México · doi:10.24875/bmhim.19000133 · Cited by 3
A Practical Forensic Approach to Fatal Pediatric Endocrinopathies
Caplan, M. J. (2016) · Academic Forensic Pathology · doi:10.23907/2016.027 · Cited by 3
AI-based discovery and cryoEM structural elucidation of a KATP channel pharmacochaperonePreprint
ElSheikh, A., Driggers, C., Truong, H. H., Yang, Z., Allen, J., Henriksen, N. M., Walczewska-Szewc, K., & Shyng, S. (2024) · eLife · doi:10.7554/elife.103159 · Cited by 6
“The majority of CHI with known genetic causes are due to loss- of-function mutations in the K ATP channel genes ( Hewat et al., 2022 ; Stanley, 2016 ).”
Sakla, M., Breitinger, U., Breitinger, H., Mansour, S., & Tammam, S. N. (2023) · Current Pharmaceutical Design · doi:10.2174/1381612829666230601122846 · Cited by 2
Relato de Caso: Hipoglicemia hiperinsulinêmica da infância
Golfeto, I. C. M., Meneguite, A. C. P., Leopoldino, A. D. S., & Filho, M. O. D. S. A. (2025) · Research Society and Development · doi:10.33448/rsd-v14i8.49389 · Cited by 2
Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome
George, A. M., Viswanathan, A. C., Sussman, J., Hathaway, E. R., Casalnova, A., Nesbitt, S., Boodhansingh, K. E., Stewart, N., McKnight, H., Lord, K., et al. (2026) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgag053 · Cited by 2
Self-citationFrom standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review
Wong, T., Chan, D., Chua, C., Cher, W. Q., Lim, S., Chandran, S., & Yap, F. K. P. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1781424 · Cited by 2
Persistent Hyperinsulinemic Hypoglycemia with Pancreatic Teratoma in Infancy: A Case Report
Cemeroğlu, A. P., Sarıalioğlu, F., Belen, F. B., & Terzi, Y. K. (2020) · American Journal of Case Reports · doi:10.12659/ajcr.925273 · Cited by 2
“The incidence of PHHI is about 1 in 35 000 live births, but it is more prevalent in countries with a high consanguinity rate [1,2].”
BackgroundNikitina, I. L., Sarakaeva, L. R., & Kelmanson, I. A. (2022) · Early Child Development and Care · doi:10.1080/03004430.2022.2108024 · Cited by 2
“Hyperinsulinism is caused by dysregulated insulin secretion from the pancreatic β-cells and can be the result of perinatal factors (perinatal stress-induced hyperinsulinism); monogenic, because of mutations in genes important for the regulation of insulin secretion; or syndromic (Stanley, 2016).”
BackgroundJuvenile hyperinsulinism in a Maine Coon kitten
Kornya, M. R., Abrams‐Ogg, A. C. G., Comeau, D., & Caswell, J. (2022) · Journal of Feline Medicine and Surgery Open Reports · doi:10.1177/20551169221136473 · Cited by 2
Adult focal β-cell nesidioblastosis: A case report
Tu, K., Zhao, L., & Gu, J. (2023) · World Journal of Clinical Cases · doi:10.12998/wjcc.v11.i1.150 · Cited by 2
Biomarkers and Diagnostic Thresholds for Congenital Hyperinsulinism
Petkovic, G., Park, J., Collingwood, C., Senniappan, S., & Didi, M. (2024) · Clinical Endocrinology · doi:10.1111/cen.15137 · Cited by 2
Pasquini, T. L. S., Banerjee, I., Christesen, H. T., Conwell, L. S., Dastamani, A., León, D. D. D., Flanagan, S. E., Gillis, D. J., Kalish, J. M., Lord, K., et al. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1549310 · Cited by 2
Self-citationHypoglycaemia in children: Review of the literature
Elusiyan, J. B. E., & Oyenusi, E. (2016) · Nigerian Journal of Paediatrics · doi:10.4314/njp.v43i2.2 · Cited by 2
Endocrine Diseases and Disorders of Thyroid Function in Newborns
Ghirri, P., Balsamo, A., Ciantelli, M., Cavarzere, P., Cassio, A., Cicognani, A., & Boldrini, A. (2016) · Springer eBooks · doi:10.1007/978-3-319-18159-2_259-1 · Cited by 2
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.
Molnár, Z., Balogh, L., Kappelmayer, J., Madar, L., Gombos, É., & Balogh, I. (2017) · Europe PMC (PubMed Central) · Cited by 2
Yau, D., Marwaha, R., Mohnike, K. L., Sajjan, R. S., Empting, S., Craigie, R., Dunne, M. J., Salomon‐Estebanez, M., & Banerjee, I. (2020) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-020-00086-2 · Cited by 2
Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
Torre, M. Á. D. L. S.-L., Villar, C. D. Á., Lama, L. R. L.-D., Almache, O. N., Chávez-Tejada, E. M., Robles, O. A. E., Ibárcena, P. M. P., Calagua-Quispe, M. R., Azabache-Tafur, P. M., & Tucto-Manchego, R. M. (2022) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2022-0490 · Cited by 2
Torre, M. Á. D. L. S.-L., Villar, C. D. Á., Almache, O. N., Chávez, E. M., Robles, O. A. E., Ibárcena, P. M. P., & Calagua-Quispe, M. R. (2018) · Revista Peruana de Pediatría · doi:10.61651/rped.2018v70n2p17-22 · Cited by 2
Lord, K., León, D. D. D., & Stanley, C. A. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_30 · Cited by 2
Self-citationCongenital and Inherited Anomalies of the Pancreas
Zenker, M., & Lerch, M. M. (2018) · Wiley eBooks · doi:10.1002/9781119188421.ch3 · Cited by 2
Hyperinsulinemic Hypoglycemia in an Adolescent: Case Report and Systematic ReviewPreprint
Castillo-López, M. G., Fernandez, M. F., Sforza, N., Barbás, N. C. M., Pattin, F. F., Mendez, G. A., Ogresta, F., Gondolesi, I., Schelotto, P. B., Musso, C., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-710368/v1 · Cited by 2
Congenital Hyperinsulinemic Hypoglycemia
Sipos, B. (2021) · Encyclopedia of pathology · doi:10.1007/978-3-319-28845-1_5278-1 · Cited by 2
Banerjee, I., Salomon‐Estebanez, M., Cosgrove, K. E., & Dunne, M. J. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64974-7 · Cited by 2
Hofland, J., & de Herder, W. W. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00061-3 · Cited by 2
Mittal, M., Gupta, A. K., & Kapoor, S. (2024) · Journal of Pediatric Endocrinology and Diabetes · doi:10.25259/jped_25_2024 · Cited by 1
Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1
Sigal, W. M., Boodhansingh, K. E., Ganguly, A. A., Mitteer, L., Stanley, C. A., & León, D. D. D. (2025) · Hormone Research in Paediatrics · doi:10.1159/000542552 · Cited by 1
“Among the known genetic causes of HI, inactivating mutations in the genes encoding the two subunits of the beta cell ATP-sensitive potassium channel are the most common defects [2].”
Self-citationCase Report: The importance of genetic counseling for families with hyperinsulinism
Sanders, V. R., Lord, K., Sigal, W. M., McKnight, H., Adzick, N. S., States, L. J., Bhatti, T. R., & León, D. D. D. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1520871 · Cited by 1
Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism
(2022) · Nature Genetics · doi:10.1038/s41588-022-01206-9 · Cited by 1
Neonatal Hypoglycemia and Hyperglycemia
Werny, D. M., Huang, A., Tenney, J., & Pihoker, C. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-82823-9.00087-8 · Cited by 1
Novel ABCC8 mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemia
Kattamanchi, D., Maralusiddappa, P., Veerabhadraiah, K. M., & Mangalgi, S. (2024) · BMJ Case Reports · doi:10.1136/bcr-2024-261701 · Cited by 1
Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene
Sozaeva, L., Ismailova, S. K., Chernyak, I. Y., Popov, S. V., Захарова, В. В., & Чугунов, І. (2024) · JCEM Case Reports · doi:10.1210/jcemcr/luae226 · Cited by 1
Beloni, A. B., Beloni, A. C., Cunha, M., & Amar, F. (2025) · Residência Pediátrica · doi:10.25060/residpediatr-2025.v15n1-1189 · Cited by 1
Hussain, S., Flanagan, S. E., & Ellard, S. (2016) · Journal of the ASEAN Federation of Endocrine Societies · doi:10.15605/jafes.031.02.16 · Cited by 1
Referrals for Hypoglycemia to the Pediatric Endocrine Clinic: Is It For Real?
Hansen, D. W., & Eugster, E. A. (2018) · Clinical Pediatrics · doi:10.1177/0009922818793342 · Cited by 1
“Such causes include adrenal insufficiency,(1,2) growth hormone deficiency,(3) and hyperinsulinism.(4,5) However, all of these diagnoses are extremely uncommon and the majority would be diagnosed before a child reaches school age.”
Histopathology of the Pancreas in Congenital Hyperinsulinism
Bhatti, T. R., & Ruchelli, E. D. (2019) · Contemporary Endocrinology · doi:10.1007/978-3-030-02961-6_8 · Cited by 1
Xiao, X. H. (2018) · Journal of Endocrinology and Thyroid Research · doi:10.19080/jetr.2018.03.555602 · Cited by 1
“Inspiringly, most patients with GLUD1 mutation were responsive to diazoxide both in Chinese population and other ethnic groups without K-ATP channel mutations [2,16,17].”
BackgroundChroustová, D., Trnka, J., Pudlač, A., Obermannová, B., & Lambert, L. (2020) · Revista Española de Medicina Nuclear e Imagen Molecular · doi:10.1016/j.remn.2020.02.005 · Cited by 1
Dias, E. (2020) · International Journal of Health Sciences and Pharmacy · doi:10.47992/ijhsp.2581.6411.0067 · Cited by 1
Melikyan, M. A., Gubaeva, D. N., Nikitina, I. L., Рыжкова, Д. В., Mitrofanova, L. B., Yukhacheva, D. V., Pershin, D., Shcherbina, A., Vasilyev, E., Proshchina, A. E., et al. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2021-0464 · Cited by 1
Congenital hyperinsulinism in a newborn presenting with poor feeding
Mazloom, K., Sanchez-Lara, P. A., Langston, S., Grand, K., & Schweiger, B. (2022) · SAGE Open Medical Case Reports · doi:10.1177/2050313x221083174 · Cited by 1
Nirmala, B. S., Handu, K., Lavanya, S., & Kariyappa, P. (2023) · International Journal of Contemporary Pediatrics · doi:10.18203/2349-3291.ijcp20230444 · Cited by 1
Sigal, W. M., & León, D. D. D. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-69415-5.00023-0 · Cited by 1
Congenital Hyperinsulinemic Hypoglycemia
Sipos, B. (2022) · Encyclopedia of pathology · doi:10.1007/978-3-030-62345-6_5278 · Cited by 1
AI-Based Discovery and CryoEM Structural Elucidation of a KATP Channel PharmacochaperonePreprint
ElSheikh, A., Driggers, C., Truong, H. H., Yang, Z., Allen, J., Henriksen, N. M., Walczewska-Szewc, K., & Shyng, S. (2024) · eLife · doi:10.7554/elife.103159.1 · Cited by 1
Not sweet enough: Hypoglycaemia in children
Bretton, L. (2016) · Emergency Medicine Australasia · doi:10.1111/1742-6723.12698
“Hyperinsulinism is the most common cause of persistent hypoglycaemia.(20) These children will usually need to have a continuous glucose infusion and can be very challenging to manage.”
BackgroundCavitron Ultrasonic Surgical Aspirator-Assisted Pancreatic Resection in Hyperinsulinism
Bond, L. M., Murrell, Z. C., Wright, T. N., & Bond, S. J. (2017) · European Journal of Pediatric Surgery · doi:10.1055/s-0037-1603524
Heterogeneidad clínica y genética del hiperinsulinismo congénito
Bernardino, J. R., Erroz, I. O., de Jubera, J. M. S., González, R. Q., & Santos, L. R. (2017) · Anales de Pediatría · doi:10.1016/j.anpedi.2017.06.005
“Congenital hyperinsulinism may be associated with several syndromes, and Beckwith-Wiedemann syndrome is the most frequent comorbidity out of the overgrowth disorders.(4) In our series, 2 patients had polymalformative syndrome, of who 1 had a phenotype compatible with BeckwithWiedemann syndrome.”
2. Neonatal hypoglycaemia: History, clinical picture, investigations, management and outcome
Sluga, T. (2018) · The Central European Journal of Paediatrics · doi:10.5457/p2005-114.194
“In addition, mutations may be present in some syndromes (BWS, Kabuki, Turner) (7, 24, 33).”
BackgroundEndokrine Erkrankungen des Pankreas bei Kindern und Jugendlichen
Barthlen, W., & von Schweinitz, D. (2019) · Springer Reference Medizin · doi:10.1007/978-3-662-58202-2_69
Hypoglycaemia – its causes and symptoms in the population of developmental age
Otto-Buczkowska, E., Jainta, N., & Grzyb, K. (2018) · Pediatria Polska · doi:10.5114/polp.2018.76234
“Is it usually isolated, but may rarely be part of a genetic syndrome [52-55].”
BackgroundCongenital Hyperinsulinism: Report of a New Mutation
Marques, J. S. (2018) · Open Access Journal of Endocrinology · doi:10.23880/oaje-16000118
“Genetic mutations have been identified in approximately 50% of cases attributable to defects in at least 11 genes [2] (Table 1).”
BackgroundLin, J., Cheng, J., Yu, X., & Wang, J. (2018) · Scientia Sinica Vitae · doi:10.1360/n052018-00163
Molecular Diagnosis of Congenital Hyperinsulinism
Flanagan, S. E., Boodhansingh, K. E., Lalonde, E., & Ganguly, A. A. (2019) · Contemporary Endocrinology · doi:10.1007/978-3-030-02961-6_5
Mechanism of pharmacochaperoning in KATP channels revealed by cryo-EMPreprint
Martin, G. M., Sung, M. W., Yang, Z., Innes, L. M., Kandasamy, B., David, L. L., Yoshioka, C., & Shyng, S. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/572297
“2 gene KCNJ11 are a major cause of neonatal diabetes, while loss-of-function mutations result in congenital hyperinsulinism (Ashcroft et al., 2017; Koster et al., 2005; Stanley, 2016).”
BackgroundCongenital Hyperinsulinism of Infancy
Pierro, A., Zani, A., & Spitz, L. (2019) · Springer surgery atlas series · doi:10.1007/978-3-662-56282-6_44
Lee, M. Y., & Maahs, D. M. (2019) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2019.06.040
Clemente, M., Yesquen, P., Campos-Martorell, A., Mogas, E., Fernández‐Cancio, M., & Yeste, D. (2018) · 57th Annual ESPE
Feasibility of Helmet-delivered Continous Positive Airway Pressure in Very Low Birthweight Infants.
Ojembarrena, A. A., Segado-Arenas, A., Benavente‐Fernández, I., & Lubián‐López, S. P. (2018) · PubMed
Azabache, K. H., Bermúdez, Z. M., Mengual, D. F., & Nso‐Roca, A. P. (2021) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2020.07.017
Cholestasis and neonatal hypoglycaemia
Gaballa, N. K. (2020) · MOJ Clinical & Medical Case Reports · doi:10.15406/mojcr.2020.10.00350
Metadata
- Authors
- Stanley, C. A.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Stanley, Charles A.
- ORCID
- Stanley, Charles A.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-03
- Volume
- 101
- Issue
- 3
- Pages
- 815-826
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4803157
- OpenAlex
- W2277559429
- Cited by
- 239
- References
- 104
- Citations by year
- 2026: 14 · 2025: 13 · 2024: 13 · 2023: 13 · 2022: 24 · 2021: 25 · 2020: 36 · 2019: 24 · 2018: 39 · 2017: 25 · 2016: 13
- FWCI
- 6.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Children's Hospital of Philadelphia
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R37DK056268)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital hyperinsulinism, pancreatic beta-cell insulin secretion, ABCC8, KCNJ11, genetic diagnosis, diazoxide, near-total pancreatectomy, 18F-DOPA PET, focal pancreatic lesions, Beckwith-Wiedemann syndrome, Kabuki syndrome, Turner syndrome, neonatal hypoglycemia
- MeSH terms
- Insulin Secretion, Humans, Infant, Newborn, Insulin, Congenital Hyperinsulinism, KATP Channels
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
