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

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dc.contributor.authorSait, Haseenaen_US
dc.contributor.authorSharma, Lokeshen_US
dc.contributor.authorDabadghao, Preetien_US
dc.contributor.authorPhadke, Shubha R.en_US
dc.date.accessioned2023-08-19T04:53:34Z
dc.date.available2023-08-19T04:53:34Z
dc.date.issued2022-04
dc.description.abstractCongenital 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 identifcation 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.en_US
dc.identifier.affiliationsDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, Indiaen_US
dc.identifier.affiliationsDepartment of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, Indiaen_US
dc.identifier.citationSait Haseena, Sharma Lokesh, Dabadghao Preeti, Phadke Shubha R.. Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling. Indian Journal of Pediatrics. 2022 Apr; 89(4): 395–398en_US
dc.identifier.issn0973-7693
dc.identifier.issn0019-5456
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223711
dc.languageenen_US
dc.publisherDr. K C Chaudhuri Foundationen_US
dc.relation.issuenumber4en_US
dc.relation.volume89en_US
dc.source.urihttps://doi.org/10.1007/s12098-021-04014-xen_US
dc.subjectCongenital hyperinsulinemiaen_US
dc.subjectRefractory hypoglycaemiaen_US
dc.subjectPreconceptional counsellingen_US
dc.subjectLoss of heterozygosityen_US
dc.titleCongenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counselingen_US
dc.typeJournal Articleen_US
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