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Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study

Kostopoulou, E; Dastamani, A; Güemes, M; Clement, E; Caiulo, S; Shanmugananda, P; Dattani, M; ... Shah, P; + view all (2021) Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study. Clinical Endocrinology , 94 (3) pp. 399-412. 10.1111/cen.14393. Green open access

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Abstract

OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith-Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a tertiary centre aims at estimating the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. METHODS: We performed a retrospective study of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. RESULTS: Biochemical investigations confirmed HH in all the cases and several genetic diagnoses were established. Responsiveness to medications and the final outcome following medical treatment or surgery were studied. CONCLUSIONS: This study highlights the association of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH-associated syndromes should be monitored for hypoglycaemia. If hypoglycaemia is documented, they should also be screened for possible HH. Our data indicate that most syndromic forms of HH are diazoxide-responsive and that HH resolves over time; however a significant percentage continues to require medications years after the onset of the disease. Early diagnosis of hyperinsulinism and initiation of treatment is important for preventing hypoglycaemic brain injury and intellectual disability.

Type: Article
Title: Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/cen.14393
Publisher version: https://doi.org/10.1111/cen.14393
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Beckwith-Wiedemann syndrome, Hyperinsulininaemic hypoglycaemia, Kabuki syndrome, Turner syndrome, syndromes
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10118229
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