Congenital isolated hyperinsulinism

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Can congenital isolated hyperinsulinism be detected on an ultrasound?

Congenital isolated hyperinsulinism (CHI) cannot be detected on ultrasound because fetuses with CHI do not typically show any signs or symptoms of the disease until after they are born. This is because when the fetus is growing in mom's uterus, the mother regulates the blood sugar of the fetus. It is possible for the fetus to be larger than average because of CHI while it is growing and developing in utero, but this is a very non-specific finding and may be related to a variety of other factors. There are no other known ultrasound abnormalities related to CHI. Even in the case where CHI is known to be in a family (because another child or family member is affected) It is not possible to assess the fetus's pancreas on prenatal ultrasound, thus many of these additional studies must be done after birth, not before.

For more information on prenatal detection of CHI, see the section in this entry regarding prenatal diagnosis.

Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy. Horm Res. 2008;69:2-13. Retrieved on January 4, 2019 at PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18059080

Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis. 2011;6:63. Retrieved on January 4, 2019 at https://www.ncbi.nlm.nih.gov/pubmed/21967988.

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