Sharma, RajniRoy, KakaliSatapathy, Amit KumarKumar, AnilNanda, Pamali MahaswetaDamle, NishikantHoughton, Jayne ALFlanagan, Sarah ERadha, VenkatesanMohan, ViswanathanJain, Vandana2023-08-252023-08-252022-02Sharma Rajni, Roy Kakali, Satapathy Amit Kumar, Kumar Anil, Nanda Pamali Mahasweta, Damle Nishikant, Houghton Jayne AL, Flanagan Sarah E, Radha Venkatesan, Mohan Viswanathan, Jain Vandana. Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience. Indian Pediatrics. 2022 Feb; 59(2): 105-1090079-60610974-7559http://imsear.searo.who.int/handle/123456789/225289Background: There is limited data from India regarding medical management of congenital hyperinsulinism (CHI). Objective: To study the molecular diagnosis, medical management and outcomes of children with CHI. Study design: Ambispective. Participants: Children with CHI admitted in from December, 2011 till March, 2020 at a tertiary care referral hospital. Outcomes: Clinical and genetic profile, treatment, and response Results: 42 children with a median age of 3 days (range 1 day to 6 years) were enrolled, of which 23 (54.7%) were diazoxideresponsive. Mutations were identified in 28 out of 41 (68.2%) patients. The commonest gene affected was ABCC8 in 22 patients. The pathogenic variant c.331G>A in ABCC8 gene was identified in 6 unrelated cases from one community. Good response to daily octreotide was seen in 13 of the 19 (68.4%) diazoxide-unresponsive patients. Monthly long-acting octreotide was initiated and daily octreotide could be stopped or tapered in 9 patients. Sirolimus was tried with variable response in 6 patients but was discontinued in 5 due to adverse effects. Four patients had focal CHI, of which one underwent partial pancreatic resection. The disease severity reduced with age and neurodevelopment was good in the patients with identifiable genetic defects who were optimally managed. Conclusions: Medical management of CHI is effective, if compliance can be ensured, with good quality of life and neurological outcomes.ABCC8 geneDiazoxideHypoglycemiaOctreotideSirolimusJournal ArticleIndiaDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Orissa, IndiaDepartment of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, IndiaGenomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UKDepartment of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India