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.
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Mechanistic data on adult-onset NIPHS is scarce, whereas the pathophysiology of persistent hyperinsulinemic hypoglycemia in childhood and infancy is well understood genetically and functionally.
“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]
The Abstract (page unavailable) describes genetic causes of congenital hyperinsulinism and advances in understanding pancreatic β-cell insulin secretion, supporting the childhood and infancy portion of the claim. The copy does not address whether mechanistic data on adult-onset NIPHS are scarce or establish the asserted morphological similarity; searches for NIPHS and adult nesidioblastosis found no such discussion. (LLM, conf=0.84)
Experimental — accuracy not yet measuredLoss-of-function mutations in KATP channel genes cause congenital hyperinsulinism because they result in permanent membrane depolarization and persistent insulin release.
“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]
The KATP-HI form section says inactivating KATP-channel mutations cause congenital hyperinsulinism. The Pathways of β-Cell Insulin Secretion section explains that KATP-channel closure depolarizes the membrane and triggers insulin release. The paper does not establish permanent depolarization for all such mutations; it describes some dominant mutations with residual channel activity. (LLM, conf=0.83)
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Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men
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New insights into KATP channel gene mutations and neonatal diabetes mellitus
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The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
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“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).”
BackgroundClinical practice guidelines for congenital hyperinsulinism
Yorifuji, T., Horikawa, R., Hasegawa, T., Adachi, M., Soneda, S., Minagawa, M., Ida, S., Yonekura, T., Kinoshita, Y., Kanamori, Y., et al. (2017) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.26.127 · Cited by 74 · see citing works
Innovative imaging of insulinoma: the end of sampling? A review
Christ, E., Antwi, K., Fani, M., & Wild, D. (2020) · Endocrine-Related Cancer · doi:10.1530/erc-19-0476 · Cited by 78 · see citing works
“Nevertheless, 18F-DOPA PET showed a relatively high sensitivity in congenital hyperinsulinism and adult nesidioblastosis (Stanley 2016).”
BackgroundRasmussen, A. H., Melikyan, M. A., Globa, E., Shcherderkina, I., Pørtner, F., Larsen, A.-M., Filipsen, K., Brusgaard, K., Christiansen, C. D., Hansen, L. K., et al. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00156 · Cited by 69 · see citing works
“AJNR Am J Neuroradiol (2013) 34(7):1456–61.”
Yau, D., Laver, T. W., Dastamani, A., Senniappan, S., Houghton, J., Shaikh, M. G., Cheetham, T. D., Mushtaq, T., Kapoor, R. R., Randell, T. L., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0228417 · Cited by 65 · see citing works
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. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0013-9 · Cited by 62 · see citing works
“Timely recognition of this condition is challenging, as the symptoms of hypoglycemia can be subtle in newborns.(3) Hyperinsulinemic hypoglycemic episodes in neonates, if not recognized, are a leading cause of developmental delays and permanent neurologic damage.”
Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes
León, D. D. D., & Stanley, C. A. (2016) · Pediatric Diabetes · doi:10.1111/pedi.12453 · Cited by 61 · see citing works
“A total of 5 cardinal features of Kabuki syndrome include: (1) the typical “Kabuki Mask” facial characteristics (long palpebral fissure, arched eyebrows, eversion of the external third of the lower lid), (2) skeletal abnormalities, (3) dermatoglyphic abnormalities, (4) neurodevelopmental delay and intellectual disabil…”
BackgroundSelf-citationApproach to hypoglycemia in infants and children
Gandhi, K. K. (2017) · Translational Pediatrics · doi:10.21037/tp.2017.10.05 · Cited by 58 · see citing works
“Treatment with diazoxide therapy may not be effective and surgical treatment may be required (9,34,49).”
BackgroundInfluentialNeonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
Paauw, N. D., Stegeman, R., Vroede, M. D., Termote, J. U. M., Freund, M. W., & Breur, J. M. P. J. (2019) · European Journal of Pediatrics · doi:10.1007/s00431-019-03521-6 · Cited by 52 · see citing works
Epigenetics in formation, function, and failure of the endocrine pancreas
Golson, M., & Kaestner, K. (2017) · Molecular Metabolism · doi:10.1016/j.molmet.2017.05.015 · Cited by 31 · see citing works
“This consequence has been seen perhaps most strikingly in humans with activating HK1 promoter mutations which lead to congenital hyperinsulinism in children due to inappropriate expression of Hexokinase I [111].”
BackgroundNeiman, D., Gillis, D., Piyanzin, S., Cohen, D., Fridlich, O., Moss, J., Zick, A., Oron, T., Sundberg, F., Forsander, G., et al. (2020) · JCI Insight · doi:10.1172/jci.insight.136579 · Cited by 50 · see citing works
“- leads to excessive insulin secretion from β-cells (reviewed in (5)).”
BackgroundHenquin, J. (2021) · Molecular Metabolism · doi:10.1016/j.molmet.2021.101212 · Cited by 46 · see citing works
“Congenital hyperinsulinism Congenital hyperinsulinism (CHI), the major cause of persistent hypoglycemia in newborns and infants, can result from mutations impacting the functioning of ionic channels or metabolic enzymes in bcells [215,216].”
BackgroundMartin, G. M., Rex, E. A., Devaraneni, P. K., Denton, J. S., Boodhansingh, K. E., León, D. D. D., Stanley, C. A., & Shyng, S. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.749366 · Cited by 48 · see citing works
“In addition, diazoxide is a potassium channel opener that can be used to enhance KATP channel activity to suppress insulin secretion and is clinically effective in treating HI patients with residual channel function (5).”
BackgroundInfluentialSelf-citationGenetic characteristics of patients with congenital hyperinsulinism
Vajravelu, M. E., & León, D. D. D. (2018) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000645 · Cited by 47 · see citing works
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2
Vajravelu, M. E., Chai, J., Krock, B. L., Baker, S., Langdon, D. R., Alter, C. A., & León, D. D. D. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-02157 · Cited by 45 · see citing works
Ferrara, C. T., Boodhansingh, K. E., Paradies, E., Fiermonte, G., Steinkrauss, L. J., Topor, L. S., Quintos, J. B., Ganguly, A. A., León, D. D. D., Palmieri, F., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3164 · Cited by 44 · see citing works
Self-citationClinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations
Tung, J. Y., Boodhansingh, K. E., Stanley, C. A., & León, D. D. D. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12655 · Cited by 42 · see citing works
“pathophysiology for hyperinsulinism in early life followed by subsequent development of β-cell failure is still unclear.(5) Informa-”
BackgroundSelf-citationGibson, C. E., Boodhansingh, K. E., Li, C., Conlin, L. K., Chen, P., Becker, S. A., Bhatti, T. R., Bamba, V., Adzick, N. S., León, D. D. D., et al. (2018) · Hormone Research in Paediatrics · doi:10.1159/000488347 · Cited by 41 · see citing works
Self-citationMuukkonen, L., Männistö, J. M. E., Jääskeläinen, J., Hannonen, R., & Huopio, H. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14039 · Cited by 40 · see citing works
Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism
Roeper, M., Dafsari, R. S., Hoermann, H., Mayatepek, E., Kummer, S., & Meißner, T. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.580642 · Cited by 40 · see citing works
Li, N., Yang, Z.-Y., Li, Q., Yu, Z., Chen, X., Li, J.-C., Li, B., Ning, S., Cui, M., Sun, J.-P., et al. (2018) · Cell Death and Disease · doi:10.1038/s41419-018-0741-4 · Cited by 35 · see citing works
Dynamics and Regulation of Insulin Secretion in Pancreatic Islets from Normal Young Children
Henquin, J., & Nenquin, M. (2016) · PLoS ONE · doi:10.1371/journal.pone.0165961 · Cited by 37 · see citing works
Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient
Banerjee, I., León, D. D. D., & Dunne, M. J. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0621-5 · Cited by 37 · see citing works
“This is in stark contrast to progress in the area of medical treatment, which has seen little meaningful change for patients over the past 30 years [1].”
ResultLimitations of galactose therapy in phosphoglucomutase 1 deficiency
Nolting, K., Park, J. H., Tegtmeyer, L. C., Zühlsdorf, A., Grüneberg, M., Rust, S., Reunert, J., Chesne, I. D., Debus, V., Schulze‐Bahr, E., et al. (2017) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2017.07.010 · Cited by 36 · see citing works
“In fact, it appears to be a complex etiology compromising glucose metabolism as well as various glycoproteins involved in the hormone cascade [25].”
BackgroundRare causes of hypoglycemia in adults
Douillard, C., Jannin, A., & Vantyghem, M.-C. (2020) · Annales d'Endocrinologie · doi:10.1016/j.ando.2020.04.003 · Cited by 41 · see citing works
Ion Transporters, Channelopathies, and Glucose Disorders
Demirbilek, H., Galcheva, S., Vurallı, D., Al‐Khawaga, S., & Hussain, K. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20102590 · Cited by 32 · see citing works
“Defects in the subunits of the pancreatic beta-cell KATP channels due to inactivating mutations in ABCC8 and KCNJ11 genes are the most common genetic cause of HH [7,25].”
BackgroundMännistö, J. M. E., Jääskeläinen, J., Otonkoski, T., & Huopio, H. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab024 · Cited by 32 · see citing works
“CHI comprises of a heterogenous group of disorders with diverse etiologies and clinical features (2).”
BackgroundDemirbilek, H., Rahman, S. A., Büyükyılmaz, G., & Hussain, K. (2017) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-017-0048-8 · Cited by 31 · see citing works
“Another ten gene defects; GLUD1, HADH, GCK, SLC16A1, HNF1A, HNF4A, UCP2, HK1, PGM1and PMM2 have been proposed to cause congenital HH [19, 45].”
BackgroundPersistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
Gole, H., Chuk, R., & Coman, D. J. (2016) · Clinics and Practice · doi:10.4081/cp.2016.848 · Cited by 31 · see citing works
Lu, M. H., & Li, C. (2017) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13448 · Cited by 28 · see citing works
“Exendin– (9-39) corrects fasting hypoglycemia in SUR-1–/– mice”
BackgroundHan, B., Mohamed, Z., Salomon‐Estebanez, M., Craigie, R., Newbould, M. J., Cheesman, E., Padidela, R., Skae, M. S., Johnson, M. B., Flanagan, S. E., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-00158 · Cited by 28 · see citing works
“to restore the physiological inhibition of insulin release (1, 2).”
BackgroundThe role of membrane excitability in pancreatic β-cell glucotoxicity
Shyr, Z. A., Wang, Z., York, N., Nichols, C. G., & Remedi, M. S. (2019) · Scientific Reports · doi:10.1038/s41598-019-43452-8 · Cited by 26 · see citing works
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism
Worth, C., Yau, D., Salomon‐Estebanez, M., O’Shea, E., Cosgrove, K. E., Dunne, M. J., & Banerjee, I. (2020) · Clinical Endocrinology · doi:10.1111/cen.14152 · Cited by 27 · see citing works
“Therapeutic modulators of b-cells which have been used in the treatment of CHI include: (1) activation of K-channels by diazoxide; (2) inhibition of Ca2+ by nifedipine; (3) stimulation of somatostatin receptors (SSTR) by octreotide and lanreotide; (4) inverse agonism of the GLP-1 receptor by exendin 9-39; and (5) the…”
MethodYang, J., Hammoud, B., Li, C., Ridler, A., Yau, D., Kim, J., Won, K., Stanley, C. A., Hoshi, T., & Stanescu, D. E. (2021) · Endocrinology · doi:10.1210/endocr/bqab121 · Cited by 27 · see citing works
Self-citationHermann, F., Kjaergaard, M., Tian, C.-L., Tiemann, U., Jackson, A., Olsen, L. R., Kraft, M., Carlsson, P., Elfving, I. M., Kettunen, J., et al. (2022) · Cell Stem Cell · doi:10.1016/j.stem.2022.12.001 · Cited by 27 · see citing works
“36 Indeed, we observed reduced expression of the two K ATP subunits ABCC8 and KCNJ11 encoding the SU receptor 1 (SUR1) and the inward rectifying potassium channel (Kir6.”
BackgroundClinical genetic testing in endocrinology: Current concepts and contemporary challenges
Newey, P. J. (2019) · Clinical Endocrinology · doi:10.1111/cen.14053 · Cited by 26 · see citing works
Männistö, J. M. E., Maria, M., Raivo, J., Kuulasmaa, T., Otonkoski, T., Huopio, H., & Laakso, M. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz271 · Cited by 26 · see citing works
ElSheikh, A., & Shyng, S. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1161117 · Cited by 18 · see citing works
“Moreover, the information is important for genetic counseling concerning recurrence risk as well as for identifying other family members at risk for hypoglycemia (35, 36).”
BackgroundHyperinsulinaemic hypoglycaemia—an overview of a complex clinical condition
Kostopoulou, E., & Shah, P. (2019) · European Journal of Pediatrics · doi:10.1007/s00431-019-03414-8 · Cited by 23 · see citing works
Global Registries in Congenital Hyperinsulinism
Pasquini, T. L. S., Mesfin, M. N., Schmitt, J., & Raskin, J. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.876903 · Cited by 23 · see citing works
“Implications for HI Patients and Research The early results of the insights generated by the only patientreported data source are consistent with the literature and other studies completed, including the genetics (1, 2), the reported side-effects of current medications (3, 20, 21), the timing and development of post-p…”
ResultHyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
Maiorana, A., & Dionisi‐Vici, C. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0059-x · Cited by 23 · see citing works
“Currently, mutations in 11 genes have been associated with HI (Stanley 2016).”
BackgroundInfluentialSyndromic Forms of Hyperinsulinaemic Hypoglycaemia—A 15‐year follow‐up Study
Kostopoulou, E., Dastamani, A., Güemes, M., Clement, E. M., Caiulo, S., Shanmugananda, P., Dattani, M., Gilbert, C., Hurst, J. A., & Shah, P. (2020) · Clinical Endocrinology · doi:10.1111/cen.14393 · Cited by 22 · see citing works
Genetic testing strategies in the newborn
Carroll, J. M., Wigby, K. M., & Murray, S. (2020) · Journal of Perinatology · doi:10.1038/s41372-020-0697-y · Cited by 21 · see citing works
Glucose Homeostasis in Newborns: An Endocrinology Perspective
Tas, E., GARIBALDI, L. R., & Muzumdar, R. H. (2020) · NeoReviews · doi:10.1542/neo.21-1-e14 · Cited by 21 · see citing works
“Diazoxide has historically been the fi rst-line treatment for HI and is the only drug approved by the US Food and Drug Administration for the treatment of HI. Diazoxide keeps the beta cell K-ATP channel open, thereby preventing membrane depolarization, a necessary step for normal insulin secretion.”
InfluentialHe, B., Li, X., & Zhou, Z. (2020) · Journal of Diabetes · doi:10.1111/1753-0407.13114 · Cited by 21 · see citing works
“Inactivating mutations in KCNJ11 have also been shown to cause familial SU (PHHI), which is an inherited disease and the most common reason for persistent hypoglycemia in newborns and infants.(8,9) The incidence rate of PHHI in the total population is approximately 1/50000 and that of the inbred population can be as h…”
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/biomedicines11061732 · Cited by 19 · see citing works
“CHI/PHH is usually caused by well-known mutations in various genes associated with insulin secretion, and clinical symptoms appear within the first weeks or months after birth [10].”
BackgroundStanescu, D. L., & Stanley, C. (2022) · Clinics of Perinatology · doi:10.1016/j.clp.2021.11.007 · Cited by 13 · see citing works
Self-citationSempoux, C. L., & Klöppel, G. (2023) · Endocrine Related Cancer · doi:10.1530/erc-23-0034 · Cited by 18 · see citing works
Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia
Hoermann, H., El‐Rifai, O., Schebek, M., Lodefalk, M., Brusgaard, K., Bachmann, N., Bergmann, C., Roeper, M., Welters, A., Dafsari, R. S., et al. (2020) · Clinical Endocrinology · doi:10.1111/cen.14267 · Cited by 18 · see citing works
Worth, C., Harper, S., Salomon‐Estebanez, M., O’Shea, E., Nutter, P. W., Dunne, M. J., & Banerjee, I. (2021) · Journal of Medical Internet Research · doi:10.2196/26957 · Cited by 18 · see citing works
“Increased knowledge of changes at the organic [7], cellular [8], and genetic [9,10] levels has led to improvements in the care of these patients, and recent studies even suggest a lowering of the subsequent rate of brain injury [11].”
Ping, F., Wang, Z., & Xiao, X. (2019) · Journal of Diabetes Investigation · doi:10.1111/jdi.13072 · Cited by 17 · see citing works
Gutgold, A., Gross, D. J., Gläser, B., & Szalat, A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3254 · Cited by 17 · see citing works
Ng, C. M., Tang, F., Seeholzer, S. H., Zou, Y., & León, D. D. D. (2017) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.13463 · Cited by 17 · see citing works
Raskin, J., Pasquini, T. L. S., Bose, S., Tallis, D., & Schmitt, J. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.886552 · Cited by 16 · see citing works
“The aim of this paper is (1) to describe the current challenges of living with HI including diagnosis and disease management told from the perspective of people living with the condition, (2) to provide family stories of life with HI, and (3) to share how a rare disease patient organization, Congenital Hyperinsulinism…”
BackgroundDastamani, A., Güemes, M., Pitfield, C., Morgan, K., Rajab, M. H., Rottenburger, C., Bomanji, J. B., Coppi, P. D., Dattani, M., & Shah, P. (2018) · Hormone Research in Paediatrics · doi:10.1159/000491101 · Cited by 16 · see citing works
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome
Welters, A., El‐Khairi, R., Dastamani, A., Bachmann, N., Bergmann, C., Gilbert, C., Clement, E. M., Hurst, J. A., Quercia, N. L., Wasserman, J. D., et al. (2019) · European Journal of Endocrinology · doi:10.1530/eje-19-0119 · Cited by 16 · see citing works
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
Staník, J., Škopková, M., Brennerová, K., Daniš, D., Rosoľanková, M., Šalingová, A., Bzdúch, V., Klimeś, I., & Gašperíková, D. (2017) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2017.02.014 · Cited by 15 · see citing works
“Gasperikova, Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation, Diabetes Research and Clinical Practice (2017), doi: http://dx.”
BackgroundBendix, J., Laursen, M. G., Mortensen, M. B., Melikyan, M. A., Globa, E., Detlefsen, S., Rasmussen, L. M., Petersen, H., Brusgaard, K., & Christesen, H. T. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00478 · Cited by 15 · see citing works
“Frontiers in Endocrinology | www.frontiersin.org 3 August 2018 | Volume 9 | Article 478 All patients with focal CHI had a heterozygous paternal KATP-channel mutation, ABCC8; n = 23 (96%), KCNJ11; n = 1 (Table 2).”
BackgroundInfluentialCraigie, R., Salomon‐Estebanez, M., Yau, D., Han, B., Mal, W., Newbould, M. J., Cheesman, E., Bitetti, S., Mohamed, Z., Sajjan, R. S., et al. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00619 · Cited by 15 · see citing works
Rasmussen, A. G., Melikyan, M. A., Globa, E., Detlefsen, S., Rasmussen, L. M., Petersen, H., Brusgaard, K., Rasmussen, A. H., Mortensen, M. B., & Christesen, H. T. (2020) · Pediatric Diabetes · doi:10.1111/pedi.12989 · Cited by 15 · see citing works
“Median (range), days 3 (1-270) 49 (1-270) 1 (1-120) .”
Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
Giri, D., Patil, P., Hart, R. L. D., Didi, M., & Senniappan, S. (2017) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-16-0125 · Cited by 15 · see citing works
Morishita, K., Kyo, C., Yonemoto, T., Kosugi, R., Ogawa, T., & Inoue, T. (2017) · Case Reports in Endocrinology · doi:10.1155/2017/4709262 · Cited by 14 · see citing works
“Recent developments in gene analyses of CHI-related hypoglycemia have provided detailed information on each mutation detected [1].”
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome
Kostopoulou, E., Dastamani, A., Caiulo, S., Antell, H., Flanagan, S. E., & Shah, P. (2019) · Clinical Endocrinology · doi:10.1111/cen.13951 · Cited by 14 · see citing works
Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum‐Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., et al. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.02.004 · Cited by 14 · see citing works
“Non-syndromal CHI is most frequently caused by mutations of the KATP-channel genes ABCC8 or KCNJ11, which are situated on 11p15 (Stanley, 2016).”
BackgroundDavidov, A. S., Elkon‐Tamir, E., Haham, A., Shefer, G., Weintrob, N., Oren, A., Lebenthal, Y., Mandel, D., & Eyal, O. (2019) · European Journal of Pediatrics · doi:10.1007/s00431-019-03544-z · Cited by 13 · see citing works
Endocrine Diseases and Disorders of Thyroid Function in Newborns
Ghirri, P., Balsamo, A., Ciantelli, M., Cavarzere, P., Cicognani, A., Boldrini, A., & Cassio, A. (2018) · Springer eBooks · doi:10.1007/978-3-319-29489-6_259 · Cited by 13 · see citing works
Congenital hyperinsulinism due to mutations in HNF1A
Yau, D., Colclough, K., Natarajan, A., Parikh, R., Canham, N. L. E., Didi, M., Senniappan, S., & Banerjee, I. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.103928 · Cited by 13 · see citing works
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism
Tosur, M., & Jeha, G. S. (2017) · Global Pediatric Health · doi:10.1177/2333794x17703462 · Cited by 12 · see citing works
“To date, mutations have been identified in 11 genes with one of them being SLC16A1, encoding monocarboxylate transporter-1 (MCT-1).(1) MCT-1 is a transporter protein regulating the transport of lactate and pyruvate, which are potent insulin secratogogs in β cells.”
BackgroundLaimon, W. N., Aboelenin, H. M., & Tantawi, N. T. E. (2021) · Pediatric Diabetes · doi:10.1111/pedi.13186 · Cited by 12 · see citing works
“However, it is curable in 97% of cases by resection of the focal pancreatic lesion.(4) On the other hand, diffuse CHI is often due to homozygous, compound heterozygous or heterozygous ABBC8/KCNJ11 mutations, with many patients responding to medical treatment.”
BackgroundDing, Y., Li, N., Chang, G., Li, J., Yao, R., Shen, Y., Wang, J., Huang, X., & Wang, X. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0551 · Cited by 12 · see citing works
“However, hypoglycemia with relative hyperinsulinism was reported in some cases, caused by abnormal protein glycosylation [14, 15].”
BackgroundSu, C., Liang, X., Li, W., Wu, D., Liu, M., Cao, B., Chen, J., Qin, M., Meng, X., & Gong, C. (2018) · Journal of Diabetes Research · doi:10.1155/2018/2802540 · Cited by 12 · see citing works
“The main clinical manifestations and genetic characteristics of the Chinese patients in this cohort are the same as those documented in other studies [15, 17, 19].”
ResultRaisingani, M. G., & Brar, P. C. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0066 · Cited by 12 · see citing works
Salguero, M. V., Chan, K., Greeley, S. A. W., Dyamenahalli, U., Waggoner, D., del Gaudio, D., Rajiyah, T., & Lemelman, M. B. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac015 · Cited by 12 · see citing works
“Diazoxide works by binding to the sulfonylurea receptor 1 subunit of the adenosine 5′-triphosphate–sensitive potassium (KATP) channel to keep it open, preventing insulin secretion from the pancreatic beta cell [4].”
BackgroundInfluentialCao, B., Di, W., Su, C., Chen, J., Liang, X., Liu, M., Liu, W., Li, X., & Gong, C. (2020) · Pediatric Investigation · doi:10.1002/ped4.12175 · Cited by 11 · see citing works
Sharma, R., Roy, K., Satapathy, A. K., Kumar, A., Nanda, P. M., Damle, N., Houghton, J., Flanagan, S. E., Radha, V., Mohan, V., et al. (2022) · PubMed Central · doi:10.1007/s13312-022-2438-0 · Cited by 4 · see citing works
“Histopathologically, CHI can be categorized into diffuse or focal forms [5,6].”
BackgroundStefanovski, D., Vajravelu, M. E., Givler, S., & León, D. D. D. (2022) · Diabetes Care · doi:10.2337/dc21-2009 · Cited by 11 · see citing works
“HI, but the underlying genetic cause remains unknown in 50% of the cases (1,2).”
BackgroundResultDelayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism
Worth, C., Hall, C., Wilson, S., Gilligan, N., O’Shea, E., Salomon‐Estebanez, M., Dunne, M. J., & Banerjee, I. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00143 · Cited by 11 · see citing works
“Congenital Hyperinsulinism (CHI) is the most common cause of severe and recurrent hypoglycaemia in childhood with an incidence between 1:2500 and 1:50000 (1).”
BackgroundLongitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
Worth, C., Hashmi, L. A., Yau, D., Salomon‐Estebanez, M., Ruiz, D. A. P., Hall, C., O’Shea, E., Stokes, H., Foster, P., Flanagan, S. E., et al. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01438-0 · Cited by 11 · see citing works
“The estimated incidence ranges from 1:2500 to 1:50,000 with higher rates among consanguineous populations [1, 2].”
BackgroundLopes, A. A., Miranda, A. C. G., Maior, M. D. R. M. S., de Mello, R. V., & Bandeira, F. A. F. (2020) · American Journal of Case Reports · doi:10.12659/ajcr.922778 · Cited by 11 · see citing works
“found sensitivity higher than 97% in 45 patients with PHH with 68GaPET/CT [19], as well as high sensitivity in adult nesidioblastosis and congenital hyperinsulinism [10].”
BackgroundAmaratunga, S. A., Tayeb, T. H., Dušátková, P., Průhová, Š., & Lebl, J. (2021) · Hormone Research in Paediatrics · doi:10.1159/000521210 · Cited by 11 · see citing works
Macián, F. M., Mingo, C. D., Cariñena, S. L., López, P. O., Felix, D. R., Navarro, M. A., Martínez-Matilla, M., Gay, C. C., Martı́nez, F., & Mesado, V. A. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0168 · Cited by 11 · see citing works
Cai, X., Genchev, G. Z., He, P., Lu, H. J., & Yu, G. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01830-4 · Cited by 10 · see citing works
“This finding provides further support to the notion of the potential role of X-linkage in the etiology of congenital hyperinsulinemic hypoglycemia [14, 15].”
ResultButnariu, L. I., Bizim, D. A., Păduraru, G., Păduraru, L., Moisă, Ș. M., Popa, S., Gimiga, N., Ghiga, G., Bădescu, M. C., Lupu, A., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25105533 · Cited by 10 · see citing works
“K ATP -channel inactivating mutations in ABCC8 associated with mutations in the KCNJ11 gene cause 97% of cases of diazoxide-unresponsive hyperinsulinism [40,41].”
BackgroundHruban, R. H., Klimstra, D. S., Zamboni, G., & Klöppel, G. (2019) · Human Pathology · doi:10.1016/j.humpath.2019.08.024 · Cited by 10 · see citing works
Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
Zeng, Q., & Sang, Y. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02624-6 · Cited by 10 · see citing works
“Parental origin testing should be included when patient testing [26].”
BackgroundClemente, M., Cobo, P., Antolı́n, M., Campos-Martorell, A., Yeste, D., Tomasini, R., Caimari, M., Masas, M., García‐Arumí, E., Fernández‐Cancio, M., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad280 · Cited by 10 · see citing works
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia
Yoshii, K., Noda, M., Naiki, Y., & Horikawa, R. (2017) · Pediatrics International · doi:10.1111/ped.13245 · Cited by 10 · see citing works
Hoermann, H., Roeper, M., Dafsari, R. S., Koestner, F., Reinauer, C., Mayatepek, E., Meißner, T., & Kummer, S. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0639 · Cited by 10 · see citing works
ATP‐Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles
Tinker, A., Aziz, Q., Li, Y., & Specterman, M. (2018) · Comprehensive Physiology · doi:10.1002/j.2040-4603.2018.tb00049.x · Cited by 123 · see citing works
“In severe diffuse disease, partial pancreatectomy is ultimately necessary and may in later life lead to diabetes mellitus (502).”
Kummer, S., Rinné, S., Seemann, G., Bachmann, N., Timothy, K. W., THORNTON, P. S., Pillekamp, F., Mayatepek, E., Bergmann, C., Meißner, T., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158097 · Cited by 9 · see citing works
“To date, multiple genes have been reported to cause monosymptomatic CHI, and several additional syndromic forms of CHI have been described [11].”
BackgroundPericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism
Hastings, L. A., Preddy, J., McCready, M., Neville, K. A., & Verge, C. F. (2020) · Hormone Research in Paediatrics · doi:10.1159/000507624 · Cited by 9 · see citing works
Worth, C., Auckburally, S. H., Worthington, S., Ahmad, S. R., O’Shea, E., Senniappan, S., Shaikh, G., Dastamani, A., Ferrara-Cook, C. T., Betz, S. F., et al. (2024) · Journal of Diabetes Science and Technology · doi:10.1177/19322968241255842 · Cited by 8 · see citing works
- 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 › Surgery › 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
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