U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Focal KATP-Associated Hyperinsulinism

MedGen UID:
1377967
•Concept ID:
C4329998
•
Disease or Syndrome

Definition

KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal KATP-Associated Hyperinsulinism

Professional guidelines

PubMed

Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):279-296. Epub 2021 Sep 21 doi: 10.1515/jpem-2021-0369. PMID: 34547194
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article
Diagnosis and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article

Recent clinical studies

Etiology

DNA methylation GrimAge version 2.
Lu AT, Binder AM, Zhang J, Yan Q, Reiner AP, Cox SR, Corley J, Harris SE, Kuo PL, Moore AZ, Bandinelli S, Stewart JD, Wang C, Hamlat EJ, Epel ES, Schwartz JD, Whitsel EA, Correa A, Ferrucci L, Marioni RE, Horvath S
Aging (Albany NY) 2022 Dec 14;14(23):9484-9549. doi: 10.18632/aging.204434. PMID: 36516495Free PMC Article
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Gϋemes M, Rahman SA, Kapoor RR, Flanagan S, Houghton JAL, Misra S, Oliver N, Dattani MT, Shah P
Rev Endocr Metab Disord 2020 Dec;21(4):577-597. doi: 10.1007/s11154-020-09548-7. PMID: 32185602Free PMC Article
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article
The Metabolic Phenotype in Obesity: Fat Mass, Body Fat Distribution, and Adipose Tissue Function.
Goossens GH
Obes Facts 2017;10(3):207-215. Epub 2017 Jun 1 doi: 10.1159/000471488. PMID: 28564650Free PMC Article

Diagnosis

Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):279-296. Epub 2021 Sep 21 doi: 10.1515/jpem-2021-0369. PMID: 34547194
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article
The Metabolic Phenotype in Obesity: Fat Mass, Body Fat Distribution, and Adipose Tissue Function.
Goossens GH
Obes Facts 2017;10(3):207-215. Epub 2017 Jun 1 doi: 10.1159/000471488. PMID: 28564650Free PMC Article

Therapy

Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):279-296. Epub 2021 Sep 21 doi: 10.1515/jpem-2021-0369. PMID: 34547194
Role of Minerals and Trace Elements in Diabetes and Insulin Resistance.
Dubey P, Thakur V, Chattopadhyay M
Nutrients 2020 Jun 23;12(6) doi: 10.3390/nu12061864. PMID: 32585827Free PMC Article
Circadian clocks and insulin resistance.
Stenvers DJ, Scheer FAJL, Schrauwen P, la Fleur SE, Kalsbeek A
Nat Rev Endocrinol 2019 Feb;15(2):75-89. doi: 10.1038/s41574-018-0122-1. PMID: 30531917
Insulin regulation of gluconeogenesis.
Hatting M, Tavares CDJ, Sharabi K, Rines AK, Puigserver P
Ann N Y Acad Sci 2018 Jan;1411(1):21-35. Epub 2017 Sep 3 doi: 10.1111/nyas.13435. PMID: 28868790Free PMC Article

Prognosis

DNA methylation GrimAge version 2.
Lu AT, Binder AM, Zhang J, Yan Q, Reiner AP, Cox SR, Corley J, Harris SE, Kuo PL, Moore AZ, Bandinelli S, Stewart JD, Wang C, Hamlat EJ, Epel ES, Schwartz JD, Whitsel EA, Correa A, Ferrucci L, Marioni RE, Horvath S
Aging (Albany NY) 2022 Dec 14;14(23):9484-9549. doi: 10.18632/aging.204434. PMID: 36516495Free PMC Article
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
The Metabolic Phenotype in Obesity: Fat Mass, Body Fat Distribution, and Adipose Tissue Function.
Goossens GH
Obes Facts 2017;10(3):207-215. Epub 2017 Jun 1 doi: 10.1159/000471488. PMID: 28564650Free PMC Article
Diagnosis and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A
J Clin Endocrinol Metab 2013 Feb;98(2):E355-63. Epub 2012 Dec 28 doi: 10.1210/jc.2012-2169. PMID: 23275527Free PMC Article

Clinical prediction guides

Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Role of Minerals and Trace Elements in Diabetes and Insulin Resistance.
Dubey P, Thakur V, Chattopadhyay M
Nutrients 2020 Jun 23;12(6) doi: 10.3390/nu12061864. PMID: 32585827Free PMC Article
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
The Metabolic Phenotype in Obesity: Fat Mass, Body Fat Distribution, and Adipose Tissue Function.
Goossens GH
Obes Facts 2017;10(3):207-215. Epub 2017 Jun 1 doi: 10.1159/000471488. PMID: 28564650Free PMC Article
Diagnosis and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article

Recent systematic reviews

Intermuscular adipose tissue in Type 2 diabetes mellitus: Non-invasive quantitative imaging and clinical implications.
Yu F, Fan Y, Sun H, Li T, Dong Y, Pan S
Diabetes Res Clin Pract 2022 May;187:109881. Epub 2022 Apr 26 doi: 10.1016/j.diabres.2022.109881. PMID: 35483545
The effect of exercise training on adipose tissue insulin sensitivity: A systematic review and meta-analysis.
Engin B, Willis SA, Malaikah S, Sargeant JA, Yates T, Gray LJ, Aithal GP, Stensel DJ, King JA
Obes Rev 2022 Jul;23(7):e13445. Epub 2022 Mar 23 doi: 10.1111/obr.13445. PMID: 35319136
Identification of clinical phenotypes in knee osteoarthritis: a systematic review of the literature.
Dell'Isola A, Allan R, Smith SL, Marreiros SS, Steultjens M
BMC Musculoskelet Disord 2016 Oct 12;17(1):425. doi: 10.1186/s12891-016-1286-2. PMID: 27733199Free PMC Article
Epicardial fat: definition, measurements and systematic review of main outcomes.
Bertaso AG, Bertol D, Duncan BB, Foppa M
Arq Bras Cardiol 2013 Jul;101(1):e18-28. doi: 10.5935/abc.20130138. PMID: 23917514Free PMC Article
The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis.
Blomberg BA, Moghbel MC, Saboury B, Stanley CA, Alavi A
Mol Imaging Biol 2013 Feb;15(1):97-105. doi: 10.1007/s11307-012-0572-0. PMID: 22752652Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...