Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome

Table 3 Hyperglucagonemia without the glucagonoma syndrome-review of the literature

	Martignoni et al[4]	Henopp et al[1] (patient 2)	Yu et al[3], Zhou et al[6]	Present case
Patient	54, M	43, F	60, F	36, F
Origin	-	-	Persian	Caucasian
Clinical symptoms	Abdominal pain Diarrhea1	Abdominal pain	Abdominal pain Constipation	Abdominal pain
Serum Glucagon (pmol/L)	Elevated	Elevated (25-fold)2	170113	66
Imaging	Negative	Positive	Positive	Negative (positive on EUS)
OctreoScan®	Negative	-	Negative	Negative
Localization	No focal abnormality	Tail	Uncinate	Tail
Pancreatic pathology	α-cell hyperplasia nesidioblastosis	α-cell hyperplasia, large cystic tumor and small solid tumors, multiple microadenomas	α-cell hyperplasia non-functioning pancreatic NET microglucagonoma microadenoma	Normal pancreatic morphology on standard H and E staining
GCGR	-	-	Homozygous gDNA point mutation	Heterozygous gDNA deletion 5 point mutations
Other Genes	-	Negative for MEN1/VHL gDNA mutations	-	Negative for MEN1/VHL gDNA mutations
Relatives GCGR	-	-	Brother Negative	Daughter Negative

¹Mild diabetes was initially suspected but then found to be unlikely;

²The glucagon levels were only measured postoperatively;

³Glucagon levels converted to pmol/L from pg/mL. M: Male; F: Female; EUS: Endoscopic ultrasound; GCGR: Glucagon receptor.