PMID- 37621212 OWN - NLM STAT- Publisher LR - 20230825 IS - 1308-5735 (Electronic) DP - 2023 Aug 25 TI - Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in School-aged Child. LID - 10.4274/jcrpe.galenos.2023.2023-3-10 [doi] AB - Insulinoma is a rare cause of non-ketotic hypoglycemia both in adults and in children. Pediatric patients account for approximately 5% of all cases, mostly due to isolated benign lesions, but it can also be part of a multiple endocrine neoplasia type 1 syndrome (MEN1). We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms, with multiple studies demonstrating the presence of an insulinoma as part of the spectrum of MEN1 syndrome. The primary significance of our report is to underscore that insulinoma can present as the initial manifestation of MEN1 syndrome in 10% of pediatric patients. Furthermore, we describe a likely pathogenic variant in the MEN1 gene not previously reported in the literature. Our report highlights the importance of the convergence of clinical, biochemical and molecular investigations in establishing a precise diagnosis, prognosis, and appropriate follow-up for pediatric patients with hypoglycemia. FAU - Lemus-Zepeda, Rodrigo AU - Lemus-Zepeda R AD - Pediatric Endocrinology. Fundacion Valle del Lili, Cali, Colombia. FAU - Salazar-Solarte, Aura Maria AU - Salazar-Solarte AM AD - Pediatrics. Fundacion Valle del Lili, Cali, Colombia. FAU - Vasquez-Forero, Diana Marcela AU - Vasquez-Forero DM AD - Genetics Resident, Universidad Icesi, Cali, Colombia. FAU - Mejia-Zapata, Liliana AU - Mejia-Zapata L AD - Pediatric Endocrinology. Fundacion Valle del Lili, Cali, Colombia. FAU - Jr Angulo-Mosquera, Mario AU - Jr Angulo-Mosquera M AD - Pediatric Endocrinology. Fundacion Valle del Lili, Cali, Colombia. LA - eng PT - Journal Article DEP - 20230825 PL - Turkey TA - J Clin Res Pediatr Endocrinol JT - Journal of clinical research in pediatric endocrinology JID - 101519456 SB - IM OTO - NOTNLM OT - MEN1 syndrome OT - hypoglycemia OT - insulinoma OT - pediatrics EDAT- 2023/08/25 06:42 MHDA- 2023/08/25 06:42 CRDT- 2023/08/25 03:18 PHST- 2023/08/25 06:42 [medline] PHST- 2023/08/25 06:42 [pubmed] PHST- 2023/08/25 03:18 [entrez] AID - 10.4274/jcrpe.galenos.2023.2023-3-10 [doi] PST - aheadofprint SO - J Clin Res Pediatr Endocrinol. 2023 Aug 25. doi: 10.4274/jcrpe.galenos.2023.2023-3-10.