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Monogenic Hyperinsulinism

MedGen UID:
1383935
•Concept ID:
C4330706
•
Disease or Syndrome

Definition

A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion. [from NCI]

Professional guidelines

PubMed

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat TI, Laver TW, Houghton JAL, Männistö JME, Alvi S, Brearey SP, Cody D, Dastamani A, De Los Santos La Torre M, Murphy N, Rami-Merhar B, Wefers B, Huopio H, Banerjee I, Johnson MB, Flanagan SE
Pediatr Diabetes 2022 Jun;23(4):457-461. Epub 2022 Mar 23 doi: 10.1111/pedi.13333. PMID: 35294086Free PMC Article

Recent clinical studies

Etiology

Advances in lipodystrophy syndrome caused by LMNA gene mutation.
Xiao C, Liu JY, Yang CR, Yu M
Yi Chuan 2022 Oct 20;44(10):913-925. doi: 10.16288/j.yczz.22-225. PMID: 36384727
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Rodent models of obesity.
Doulberis M, Papaefthymiou A, Polyzos SA, Katsinelos P, Grigoriadis N, Srivastava DS, Kountouras J
Minerva Endocrinol 2020 Sep;45(3):243-263. Epub 2019 Nov 13 doi: 10.23736/S0391-1977.19.03058-X. PMID: 31738033
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
Genetic characteristics of patients with congenital hyperinsulinism.
Vajravelu ME, De León DD
Curr Opin Pediatr 2018 Aug;30(4):568-575. doi: 10.1097/MOP.0000000000000645. PMID: 29750770Free PMC Article

Diagnosis

Congenital hyperinsulinism.
Velde CD, Reigstad H, Tjora E, Guthe HJT, Hansen EV, Molven A, Njølstad PR
Tidsskr Nor Laegeforen 2023 Dec 12;143(18) Epub 2023 Dec 11 doi: 10.4045/tidsskr.23.0425. PMID: 38088279
The clinical consequences of heterogeneity within and between different diabetes types.
Redondo MJ, Hagopian WA, Oram R, Steck AK, Vehik K, Weedon M, Balasubramanyam A, Dabelea D
Diabetologia 2020 Oct;63(10):2040-2048. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05211-7. PMID: 32894314Free PMC Article
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
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
Type 2 diabetes: a multifaceted disease.
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article

Therapy

Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
Perge K, Nicolino M
Rev Endocr Metab Disord 2022 Oct;23(5):1063-1078. Epub 2022 Aug 23 doi: 10.1007/s11154-022-09749-2. PMID: 35996042
Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.
Bonnefond A, Semple RK
Diabetologia 2022 Nov;65(11):1782-1795. Epub 2022 May 27 doi: 10.1007/s00125-022-05720-7. PMID: 35618782Free PMC Article
Management of Diabetes in Children and Adolescents.
Levesque C
Nurs Clin North Am 2017 Dec;52(4):589-603. Epub 2017 Oct 5 doi: 10.1016/j.cnur.2017.07.008. PMID: 29080580
Hypertriglyceridemia in the genomic era: a new paradigm.
Lewis GF, Xiao C, Hegele RA
Endocr Rev 2015 Feb;36(1):131-47. Epub 2015 Jan 2 doi: 10.1210/er.2014-1062. PMID: 25554923
Genome-wide association studies of obesity and metabolic syndrome.
Fall T, Ingelsson E
Mol Cell Endocrinol 2014 Jan 25;382(1):740-757. Epub 2012 Sep 3 doi: 10.1016/j.mce.2012.08.018. PMID: 22963884

Prognosis

Congenital hyperinsulinism.
Velde CD, Reigstad H, Tjora E, Guthe HJT, Hansen EV, Molven A, Njølstad PR
Tidsskr Nor Laegeforen 2023 Dec 12;143(18) Epub 2023 Dec 11 doi: 10.4045/tidsskr.23.0425. PMID: 38088279
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
The clinical consequences of heterogeneity within and between different diabetes types.
Redondo MJ, Hagopian WA, Oram R, Steck AK, Vehik K, Weedon M, Balasubramanyam A, Dabelea D
Diabetologia 2020 Oct;63(10):2040-2048. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05211-7. PMID: 32894314Free 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 clinical utility of C-peptide measurement in the care of patients with diabetes.
Jones AG, Hattersley AT
Diabet Med 2013 Jul;30(7):803-17. doi: 10.1111/dme.12159. PMID: 23413806Free PMC Article

Clinical prediction guides

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
The clinical consequences of heterogeneity within and between different diabetes types.
Redondo MJ, Hagopian WA, Oram R, Steck AK, Vehik K, Weedon M, Balasubramanyam A, Dabelea D
Diabetologia 2020 Oct;63(10):2040-2048. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05211-7. PMID: 32894314Free 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
Type 2 diabetes: a multifaceted disease.
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article
Genetic characteristics of patients with congenital hyperinsulinism.
Vajravelu ME, De León DD
Curr Opin Pediatr 2018 Aug;30(4):568-575. doi: 10.1097/MOP.0000000000000645. PMID: 29750770Free PMC Article

Recent systematic reviews

Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
Perge K, Nicolino M
Rev Endocr Metab Disord 2022 Oct;23(5):1063-1078. Epub 2022 Aug 23 doi: 10.1007/s11154-022-09749-2. PMID: 35996042
Genome-wide association studies of obesity and metabolic syndrome.
Fall T, Ingelsson E
Mol Cell Endocrinol 2014 Jan 25;382(1):740-757. Epub 2012 Sep 3 doi: 10.1016/j.mce.2012.08.018. PMID: 22963884

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