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Editorial
. 2022 Apr;89(4):395-398.
doi: 10.1007/s12098-021-04014-x. Epub 2022 Feb 19.

Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling

Haseena Sait  1 , Lokesh Sharma  2 , Preeti Dabadghao  2 , Shubha R Phadke  3
Affiliations
Editorial

Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling

Haseena Sait et al. Indian J Pediatr. 2022 Apr.

Abstract

Congenital hyperinsulinemia (CHI) is a genetically and clinically heterogenous disorder. In addition to the standard care of management of the proband, genetic counseling regarding the risk of recurrence in the future siblings is an important part in the management of the disorder. The counseling needs identification of accurate etiology and is challenging due to the complexity of the molecular mechanisms of CHI. This case highlights the importance of molecular testing which not only helped in planning the management of the proband with CHI but also helped in providing genetic counseling for which the family had consulted the medical genetics department.

Keywords: Congenital hyperinsulinemia; Loss of heterozygosity; Preconceptional counselling; Refractory hypoglycaemia.

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References

    1. Arnoux JB, Verkarre V, Saint-Martin C, et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis. 2011;6:63. - DOI
    1. Galcheva S, Demirbilek H, Al-Khawaga S, Hussain K. The genetic and molecular mechanisms of congenital hyperinsulinism. Front Endocrinol (Lausanne). 2019;10:111. - DOI
    1. Demirbilek H, Hussain K. Congenital hyperinsulinism: diagnosis and treatment update. J Clin Res Pediatr Endocrinol. 2017;9:69–87. - PubMed - PMC
    1. Shah P, Rahman SA, Demirbilek H, Güemes M, Hussain K. Hyperinsulinaemic hypoglycaemia in children and adults. Lancet Diabetes Endocrinol. 2017;5:729–42. - DOI
    1. Tornovsky S, Crane A, Cosgrove KE, et al. Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J Clin Endocrinol Metab. 2004;89:6224–34. - DOI

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