Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome.

Autor:	Auckley ED; Department of Internal Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Arosemena M; Department of Medicine, Universidad Espíritu Santo, Ecuador, San Antonio, TX 78207, USA., Philipson LH; Departments of Medicine and Pediatrics, University of Chicago Medicine, Chicago, IL 60637, USA.
Jazyk:	angličtina
Zdroj:	JCEM case reports [JCEM Case Rep] 2024 Jan 31; Vol. 2 (2), pp. luae003. Date of Electronic Publication: 2024 Jan 31 (Print Publication: 2024).
DOI:	10.1210/jcemcr/luae003
Abstrakt:	The 1p36 deletion syndrome involves a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. We report the case of a 21-year-old female patient with 1p36 deletion syndrome who was found to have noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) after hospitalization for persistent falls. On admission, vital signs were normal and physical examination revealed a thin, nonverbal patient. During hospitalization and prolonged fasting (14-18 hours), she persistently developed hypoglycemia (serum glucose nadir 57 mg/dL [3.2 mmol/L] [70-100 mg/dL; 3.9-5.6 mmol/L]). Subjective symptoms of hypoglycemia were not confirmed due to patient's cognitive impairment. Hypoglycemic events continued despite feeding and dextrose-containing fluids. Further workup included a critical sample that revealed a serum glucose 59 mg/dL (3.3 mmol/L), insulin 20.6 μIU/mL (123.6 pmol/L [5-15 μIU/mL; 30.0-90 pmol/L]), proinsulin 33 pmol/L (3.6-22 pmol/L), C-peptide 1.74 ng/mL (0.58 nmol/L [0.8-3.85 ng/mL; 0.27-1.28 nmol/L]) and beta-hydroxybutyrate < 1.04 mg/dL (< 0.10 mmol/L; [< 4.2 mg/dL; < 0.4 mmol/L]). Insulin antibodies were negative. After confirmed insulin-mediated hypoglycemia, imaging studies followed. Pancreatic protocol abdominal computed tomography (CT), Ga-68 DOTATATE PET/CT scan, and endoscopic ultrasound found no pancreatic mass. Selective arterial calcium stimulation test showed a two-fold increase in insulin levels in 3/3 catheterized pancreatic territories. The patient started octreotide injections with resolution of hypoglycemia and was discharged on monthly lanreotide injections. To our knowledge, this is the first case reported of noninsulinoma pancreatogenous hypoglycemia in a patient with 1p36 deletion syndrome. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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