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Familial hyperinsulinism(PHHI; PHHI)

MedGen UID:
854723
Concept ID:
C3888018
Disease or Syndrome
Synonym: Congenital hyperinsulinism
SNOMED CT: Congenital hyperinsulinism (360339005); Persistent hyperinsulinemic hypoglycemia of infancy (360339005)
 
Gene (location): HNF4A (20q13.12)
Related genes: ABCC8, SLC16A1, KCNJ11, INSR, HADH, GLUD1, GCK
 
Monarch Initiative: MONDO:0017182
OMIM®: 256450; 601820
Orphanet: ORPHA276525

Definition

The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.

Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Roeper M, Hoermann H, Kummer S, Meissner T
Front Endocrinol (Lausanne) 2023;14:1179102. Epub 2023 Jun 8 doi: 10.3389/fendo.2023.1179102. PMID: 37361517Free PMC Article
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
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

Curated

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Recent clinical studies

Etiology

Gilis-Januszewska A, Piątkowski J, Skalniak A, Piwońska-Solska B, Nazim J, Pach D, Przybylik-Mazurek E, Sowa-Staszczak A, Starzyk J, Hubalewska-Dydejczyk A
Endokrynol Pol 2015;66(4):344-54. doi: 10.5603/EP.2015.0044. PMID: 26323472
Permutt MA, Chiu K, Ferrer J, Glaser B, Inoue H, Nestorowicz A, Stanley CA, Tanizawa Y
Recent Prog Horm Res 1998;53:201-16. PMID: 9769709
Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA
Hum Mol Genet 1998 Jul;7(7):1119-28. doi: 10.1093/hmg/7.7.1119. PMID: 9618169
Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA
Hum Mol Genet 1995 May;4(5):879-86. doi: 10.1093/hmg/4.5.879. PMID: 7633448

Diagnosis

Gilis-Januszewska A, Piątkowski J, Skalniak A, Piwońska-Solska B, Nazim J, Pach D, Przybylik-Mazurek E, Sowa-Staszczak A, Starzyk J, Hubalewska-Dydejczyk A
Endokrynol Pol 2015;66(4):344-54. doi: 10.5603/EP.2015.0044. PMID: 26323472
Sharma N, Crane A, Gonzalez G, Bryan J, Aguilar-Bryan L
Kidney Int 2000 Mar;57(3):803-8. doi: 10.1046/j.1523-1755.2000.00918.x. PMID: 10720932
Babenko AP, Aguilar-Bryan L, Bryan J
Annu Rev Physiol 1998;60:667-87. doi: 10.1146/annurev.physiol.60.1.667. PMID: 9558481
Aguilar-Bryan L, Clement JP 4th, Gonzalez G, Kunjilwar K, Babenko A, Bryan J
Physiol Rev 1998 Jan;78(1):227-45. doi: 10.1152/physrev.1998.78.1.227. PMID: 9457174
Burman WJ, McDermott MT, Bornemann M
Arch Intern Med 1992 Oct;152(10):2125-7. PMID: 1358043

Therapy

de las Heras J, Garin I, de Nanclares GP, Aguayo A, Rica I, Castaño L, Vela A
J Pediatr Endocrinol Metab 2010 Aug;23(8):827-30. doi: 10.1515/jpem.2010.132. PMID: 21073125
Cederblad F, Ewald U, Gustafsson J
Horm Res 1998;50(2):94-8. doi: 10.1159/000023242. PMID: 9701703
Horev Z, Ipp M, Levey P, Daneman D
J Pediatr 1991 Nov;119(5):717-20. doi: 10.1016/s0022-3476(05)80285-9. PMID: 1941376

Clinical prediction guides

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK
Clin Endocrinol (Oxf) 2014 Dec;81(6):855-61. Epub 2014 Jul 2 doi: 10.1111/cen.12517. PMID: 24890200Free PMC Article
Partridge CJ, Beech DJ, Sivaprasadarao A
J Biol Chem 2001 Sep 21;276(38):35947-52. Epub 2001 Jul 16 doi: 10.1074/jbc.M104762200. PMID: 11457841
Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA
Diabetes 1997 Nov;46(11):1743-8. doi: 10.2337/diab.46.11.1743. PMID: 9356020
Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA
Hum Mol Genet 1995 May;4(5):879-86. doi: 10.1093/hmg/4.5.879. PMID: 7633448
Burman WJ, McDermott MT, Bornemann M
Arch Intern Med 1992 Oct;152(10):2125-7. PMID: 1358043

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    • 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.

    Curated

    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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