case_images: PMC9134870_01
case_images: Clinical characteristics of the patient: obvious pigmentation in the skin around the neck, underarm pit and inguinal areas and rough hyperplasia with increasing hair in the chest and abdomen.
case_images: fendo-13-895424-g001.jpg
case_images: PMC9134870_01_fendo-13-895424-g001.jpg
case_images: f1
case_images: Physical examination showed obvious pigmentation in the skin around the neck, underarm pit, and inguinal areas and rough hyperplasia with increasing hair in the chest and abdomen ( Figure 1 ) and other data were normal.
case_images: (A) Pancreatic MRI + enhancement: pancreatic neck diameter 6 mm nodule-like protrusion. (B) Patient ultrasound endoscopy: a low echo area in the pancreatic neck with a sectional size of approximately 1.0*0.6 cm. (C) EUS-FNA, intraoperative pancreatic tissue disease showed pancreatic puncture tissue is mostly cellulose-like exudate, large lymphocytes and little eosinophils diffuse or focal infiltration, local extrusion deformation, structure under clear, no pancreatic tissue structure and other were seen.
case_images: fendo-13-895424-g002.jpg
case_images: PMC9134870_01_fendo-13-895424-g002.jpg
case_images: f2
case_images: Pancreatic MRI indicated a 6 mm diameter nodule-like protrusiona in pancreatic neck. ( Figure 2A ) and endoscopic ultrasonography (EUS) indicated a low echo area in the pancreatic neck ( Figure 2B ). According to  Figures 2A, B , insulinoma seems to be the cause of the diagnosis.
case_images: (A) Pedigree diagram and verification results of genetic testing for the proband and his parents: (B) Sample number: 19D3692119, Affiliation: proband, Nucleotide change: c.3472C>T, Amino acid changes: p.Arg1158Trp, Verification result: heterozygosis, Test method: Mass spectrometry validation; (C) Sample number: 19D3234505, Affiliation: mother, Nucleotide change: normal, Amino acid changes: normal, Verification result: normal, Test method: Mass spectrometry validation; (D) Sample number: 19D3234506, Affiliation: father, Nucleotide change: c.3472C>T, Amino acid changes: p.Arg1158Trp, Verification result: heterozygosis, Test method: Mass spectrometry validation.
case_images: fendo-13-895424-g003.jpg
case_images: PMC9134870_01_fendo-13-895424-g003.jpg
case_images: f3
case_images: Arg1158Trp) Variability ( Figure 3 ).