hrp0097rfc9.2 | Diabetes and insulin 2 | ESPE2023

Two new candidate genes, OGDH and FGFR1 discovered in an insulinoma from a fifteen-year-old male

Andersen Kirstine , Brusgaard Klaus , Detlefsen Sönke , Christesen Henrik

The present study aimed to determine the mutational and molecular landscape of a 17 mm insulinoma from a fifteen-year-old male. Using targeted exome sequencing and microarray, we investigated somatic candidates in the insulinoma. The microarray analysis was conducted using 12 other insulinomas as a control group and revealed a total of 1907 differentially expressed genes (P-value < 0.05, FDR P-value < 0.05). After thorough gene variant filtering, we ide...

hrp0097rfc10.5 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) &amp; Multisystem endocrine disorders | ESPE2023

Insulinoma in childhood: A multicenter retrospective study of 28 patients

Melikyan Maria , Gubaeva Diliara , Shadrina Anna , Bolmasova Anna , Kareva Maria , Tiulpakov Anatoly , Gurevich Larisa , Efremenkov Artem , Averyanova Julia , Andersen Kirstine , Brusgaard Klaus , Detlefsen Sonke , Christesen Henrik

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...