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Exercise-induced hyperinsulinism(HHF7)

MedGen UID:
351246
Concept ID:
C1864902
Disease or Syndrome
Synonyms: Exercise-induced hyperinsulinemic hypoglycemia; HHF7; Hyperinsulinemic hypoglycemia familial 7
SNOMED CT: Exercise-induced hyperinsulinism (715830008); Exercise-induced hyperinsulinemic hypoglycemia (715830008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SLC16A1 (1p13.2)
 
Monarch Initiative: MONDO:0012396
OMIM®: 610021
Orphanet: ORPHA165991

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]

Clinical features

From HPO
Pancreatic islet-cell hyperplasia
MedGen UID:
108598
Concept ID:
C0597167
Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
Hypoglycemic seizures
MedGen UID:
164079
Concept ID:
C0877056
Disease or Syndrome
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
An increased concentration of insulin in the blood.
Hyperinsulinemic hypoglycemia
MedGen UID:
351247
Concept ID:
C1864903
Disease or Syndrome
An increased concentration of insulin combined with a decreased concentration of glucose in the blood.

Professional guidelines

PubMed

Magalhães FC, Ferraresi C
Photobiomodul Photomed Laser Surg 2022 Sep;40(9):597-603. Epub 2022 Aug 30 doi: 10.1089/photob.2022.0031. PMID: 36040371
Deichmann J, Bachmann S, Burckhardt MA, Szinnai G, Kaltenbach HM
Front Endocrinol (Lausanne) 2021;12:723812. Epub 2021 Aug 19 doi: 10.3389/fendo.2021.723812. PMID: 34489869Free PMC Article
Hawkes CP, De Leon DD, Rickels MR
Curr Diab Rep 2019 Sep 6;19(10):97. doi: 10.1007/s11892-019-1216-4. PMID: 31493043Free PMC Article

Recent clinical studies

Etiology

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
Pullen TJ, Rutter GA
Diabetes Obes Metab 2013 Jun;15(6):503-12. Epub 2012 Nov 22 doi: 10.1111/dom.12029. PMID: 23121289

Diagnosis

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
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC
Orphanet J Rare Dis 2012 May 15;7:26. doi: 10.1186/1750-1172-7-26. PMID: 22587661Free PMC Article
Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipilä I
Diabetes 2003 Jan;52(1):199-204. doi: 10.2337/diabetes.52.1.199. PMID: 12502513

Clinical prediction guides

Marquard J, Welters A, Buschmann T, Barthlen W, Vogelgesang S, Klee D, Krausch M, Raffel A, Otter S, Piemonti L, Mayatepek E, Otonkoski T, Lammert E, Meissner T
Diabetologia 2013 Jan;56(1):31-5. Epub 2012 Oct 17 doi: 10.1007/s00125-012-2750-7. PMID: 23073708
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipilä I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J
Am J Hum Genet 2007 Sep;81(3):467-74. Epub 2007 Jul 26 doi: 10.1086/520960. PMID: 17701893Free PMC Article

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