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Endocrine Abstracts (2018) 58 OC4.7 | DOI: 10.1530/endoabs.58.OC4.7

1Endocrinology Department, Great Ormond Street Hospital for Children, London, UK; 2Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; 3Endocrinology Department, Great Ormond Street Hospital for Children, London, UK; 4Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; 5Department of Surgery, Great Ormond Street Hospital for Children, London, UK; 6Department of Paediatric Surgery, Royal Manchester Children’s Hospital, Manchester, UK; 7Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Exeter, UK; 8Department of Paediatric Endocrinology, Alder Hey Children’s Hospital NHS Trust, Liverpool, UK; 9Great Ormond Street Hospital, London, UK; 10GGM Programme, GEHD section, Institute of Child Health, University College London, London, UK.


Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.

Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.

Design: Retrospective review of patients diagnosed with focal type of CHI from 2003–2018 at 2 regional specialist centres.

Results: Data from 52 individuals with focal CHI were analysed; 37 were male and 15 female. Paternally-inherited heterozygous mutations in K-ATP channel genes (ABCC8, KCNJ11) were identified in 48 patients (42 ABCC8; 6 KCNJ11). Three patients had negative CHI genetic testing, while one of them showed somatic loss of heterozygosity in the resected pancreatic tissue. The Fluorine-18 L-3,4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F-DOPA-PET/CT scan) confirmed a focal lesion in 48 patients, with the pancreatic head being the most prevalent lesion location. In the remaining 4 patients, imaging was inconclusive; in these patients the diagnosis was established by frozen section histopathology at surgery. Prior to surgery the majority of the patients (n=49) were unresponsive to Diazoxide treatment, with 19 responding to Octreotide, 3 partially responsive to Sirolimus and 1 to Lanreotide. Ten patients were treated conservatively without surgery; at last review 2 patients had stopped medications, while 8 were still on medications but able to tolerate age-appropriate fasting. Forty-five patients underwent pancreatic surgery; 35 had lesionectomy, 7 had sub-total pancreatectomy and 3 had biopsies. Post-surgery, CHI resolved in 36 patients, while 6 required medication (Diazoxide or Octreotide) and four stopped mediations 2–10 years post-surgery. Among those whose underwent sub-total pancreatectomy, 2 patients developed pancreatic insufficiency and one developed diabetes 10 years post-operatively.

Conclusion: Surgical excision of the focal lesion remains the treatment of choice for focal CHI. However, our data support the possible implementation of medical therapy in select cases.

Volume 58

46th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Birmingham, UK
07 Nov 2018 - 09 Nov 2018

British Society for Paediatric Endocrinology and Diabetes 

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