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Congenital isolated hyperinsulinism

MedGen UID:
1049640
Concept ID:
CN372705
Disease or Syndrome
Synonyms: chi; congenital hyperinsulinism; Congenital Hyperinsulinism; congenital isolated hyperinsulinism; hyperinsulinemic hypoglycemia familial; hyperinsulinism congenital; hyperinsulinism familial with pancreatic nesidioblastosis; hypoglycemia hyperinsulinemic of infancy; persistent hyperinsulinemic hypoglycemia of infancy; PHHI
 
Monarch Initiative: MONDO:0019010

Definition

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. [from MONDO]

Professional guidelines

PubMed

Sikimic J, Hoffmeister T, Gresch A, Kaiser J, Barthlen W, Wolke C, Wieland I, Lendeckel U, Krippeit-Drews P, Düfer M, Drews G
Front Endocrinol (Lausanne) 2020;11:545638. Epub 2020 Oct 27 doi: 10.3389/fendo.2020.545638. PMID: 33193079Free PMC Article

Recent clinical studies

Etiology

Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA
Horm Res Paediatr 2018;89(6):413-422. Epub 2018 Jun 14 doi: 10.1159/000488347. PMID: 29902804Free PMC Article
Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ
J Clin Endocrinol Metab 2017 Sep 1;102(9):3261-3267. doi: 10.1210/jc.2017-00158. PMID: 28605545Free PMC Article
Gomes-Santos E, Salvatori R, Ferrão TO, Oliveira CR, Diniz RD, Santana JA, Pereira FA, Barbosa RA, Souza AH, Melo EV, Epitácio-Pereira CC, Oliveira-Santos AA, Oliveira IA, Machado JA, Santana-Júnior FJ, Barreto-Filho JA, Aguiar-Oliveira MH
J Clin Endocrinol Metab 2014 Sep;99(9):3285-9. Epub 2014 Jun 13 doi: 10.1210/jc.2014-2132. PMID: 24926956
Menezes M, Salvatori R, Melo LD, Rocha ÍE, Oliveira CR, Pereira RM, Souza AH, Valença EH, Melo EV, Campos VC, Costa FO, Aguiar-Oliveira MH
Endocrine 2013 Aug;44(1):207-11. Epub 2013 Feb 10 doi: 10.1007/s12020-013-9896-z. PMID: 23397510
Rimoin DL
Birth Defects Orig Artic Ser 1971 May;7(6):12-20. PMID: 4375505

Diagnosis

Hewat TI, Johnson MB, Flanagan SE
Front Endocrinol (Lausanne) 2022;13:873254. Epub 2022 Jul 7 doi: 10.3389/fendo.2022.873254. PMID: 35872984Free PMC Article
Sikimic J, Hoffmeister T, Gresch A, Kaiser J, Barthlen W, Wolke C, Wieland I, Lendeckel U, Krippeit-Drews P, Düfer M, Drews G
Front Endocrinol (Lausanne) 2020;11:545638. Epub 2020 Oct 27 doi: 10.3389/fendo.2020.545638. PMID: 33193079Free PMC Article
Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA
Horm Res Paediatr 2018;89(6):413-422. Epub 2018 Jun 14 doi: 10.1159/000488347. PMID: 29902804Free PMC Article
Albaqumi M, Alhabib FA, Shamseldin HE, Mohammed F, Alkuraya FS
J Med Genet 2014 Apr;51(4):271-4. Epub 2014 Jan 13 doi: 10.1136/jmedgenet-2013-102085. PMID: 24421282
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C
Early Hum Dev 2010 May;86(5):287-94. Epub 2010 Jun 13 doi: 10.1016/j.earlhumdev.2010.05.003. PMID: 20550977

Therapy

Descamps J, Ruello C, Perge K, de Bellescize J, Saint-Martin C, Nicolino M
J Pediatr Endocrinol Metab 2021 May 26;34(5):667-673. Epub 2021 Mar 4 doi: 10.1515/jpem-2020-0381. PMID: 33662190
Sikimic J, Hoffmeister T, Gresch A, Kaiser J, Barthlen W, Wolke C, Wieland I, Lendeckel U, Krippeit-Drews P, Düfer M, Drews G
Front Endocrinol (Lausanne) 2020;11:545638. Epub 2020 Oct 27 doi: 10.3389/fendo.2020.545638. PMID: 33193079Free PMC Article
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Akın O, Yeşilkaya E, Sari E, Akar Ç, Başbozkurt G, Macit E, Aydin I, Taşlipinar A, Gül H
Horm Res Paediatr 2016;86(6):416-419. Epub 2016 May 26 doi: 10.1159/000446497. PMID: 27221098
Oliveira JL, Aguiar-Oliveira MH, D'Oliveira A Jr, Pereira RM, Oliveira CR, Farias CT, Barreto-Filho JA, Anjos-Andrade FD, Marques-Santos C, Nascimento-Junior AC, Alves EO, Oliveira FT, Campos VC, Ximenes R, Blackford A, Parmigiani G, Salvatori R
J Clin Endocrinol Metab 2007 Dec;92(12):4664-70. Epub 2007 Oct 2 doi: 10.1210/jc.2007-1636. PMID: 17911170

Prognosis

Descamps J, Ruello C, Perge K, de Bellescize J, Saint-Martin C, Nicolino M
J Pediatr Endocrinol Metab 2021 May 26;34(5):667-673. Epub 2021 Mar 4 doi: 10.1515/jpem-2020-0381. PMID: 33662190
Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ
J Clin Endocrinol Metab 2017 Sep 1;102(9):3261-3267. doi: 10.1210/jc.2017-00158. PMID: 28605545Free PMC Article
Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG
Diabetes 2011 Jan;60(1):209-17. Epub 2010 Oct 27 doi: 10.2337/db10-0731. PMID: 20980454Free PMC Article
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C
Early Hum Dev 2010 May;86(5):287-94. Epub 2010 Jun 13 doi: 10.1016/j.earlhumdev.2010.05.003. PMID: 20550977
Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, Thornton PS, Baker L, Stanley CA, Cohen P
J Pediatr 1997 Aug;131(2):193-9. doi: 10.1016/s0022-3476(97)70153-7. PMID: 9290603

Clinical prediction guides

Sikimic J, Hoffmeister T, Gresch A, Kaiser J, Barthlen W, Wolke C, Wieland I, Lendeckel U, Krippeit-Drews P, Düfer M, Drews G
Front Endocrinol (Lausanne) 2020;11:545638. Epub 2020 Oct 27 doi: 10.3389/fendo.2020.545638. PMID: 33193079Free PMC Article
Li C, Ackermann AM, Boodhansingh KE, Bhatti TR, Liu C, Schug J, Doliba N, Han B, Cosgrove KE, Banerjee I, Matschinsky FM, Nissim I, Kaestner KH, Naji A, Adzick NS, Dunne MJ, Stanley CA, De León DD
Diabetes 2017 Jul;66(7):1901-1913. Epub 2017 Apr 25 doi: 10.2337/db17-0029. PMID: 28442472Free PMC Article
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Gomes-Santos E, Salvatori R, Ferrão TO, Oliveira CR, Diniz RD, Santana JA, Pereira FA, Barbosa RA, Souza AH, Melo EV, Epitácio-Pereira CC, Oliveira-Santos AA, Oliveira IA, Machado JA, Santana-Júnior FJ, Barreto-Filho JA, Aguiar-Oliveira MH
J Clin Endocrinol Metab 2014 Sep;99(9):3285-9. Epub 2014 Jun 13 doi: 10.1210/jc.2014-2132. PMID: 24926956
Oliveira CR, Salvatori R, Meneguz-Moreno RA, Aguiar-Oliveira MH, Pereira RM, Valença EH, Araujo VP, Farias NT, Silveira DC, Vieira JG, Barreto-Filho JA
J Clin Endocrinol Metab 2010 Feb;95(2):693-8. Epub 2009 Dec 16 doi: 10.1210/jc.2009-1919. PMID: 20016047Free PMC Article

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