Table 2.

Additional investigations for case 5 to screening for MEN syndromes

Fasting biochemical screening tests	Reference range	Results
Prolactin (mU/l)	45–175	1630
IGF-1 (nmol/l)	9.4–29.3	32.4
Glucose (mmol/l)	4.1–6.0	5.7
Insulin (pmol/l)	–	48
Gastrin (pmol/l)	0–40	>400
Glucagon (pmol/l)	0–50	18
CART (pmol/l)	0–129	58
Somatostatin (pmol/l)	0–150	25
Chromogranin A (pmol/l)	0–60	72
Chromogranin B (pmol/l)	0–150	145
Pancreatic polypeptide (pmol/l)	0–300	46
Vasointestinal polypeptide (pmol/l)	0–30	6
Calcitonin (ng/l)	0–11.8	3.2
24 h urine 5-HIAA (μmol/24 h)	0–47	37
2-h OGTT
Baseline: GH (μg/l), glucose(mmol/l), IGF-1(nmol/l)		3.7, 4.9, 33.9
GH at 30, 60, 90 and 120 min		0.6, 0.2, 0.1, 0.1
Glucose at 30, 60, 90 and 120 min		13.2, 12.1, 11.0, 5.4
Genetic analysis
MEN1		NM_130799: c.1256G > Tp.(Gly419Val)
Radiological investigations
CT chest, abdomen and pelvis		2 × 1.5 cm solid structure posterior to the right thyroid lobe suggestive of two parathyroid adenomas Bilateral non-obstructing renal calculi (2 mm) Bones appear sclerotic Spleen, pancreas and adrenal glands appear normal
Ultrasound neck		Two parathyroid adenomas in right thyroid lobe
DEXA		Osteopenia
99mTc-sestamibi-SPECT/CT		Right parathyroid adenomas
MRI pituitary with contrast		No pituitary adenoma identified
Oesophago-gastro-duodenoscopy		Ulcers at gastro-oesophageal junction
Visual field test		No VF defects

Boldface indicates value over reference range

IGF-1, insulin like growth factor-1; CART, cocaine- and amphetamine-regulated transcript; 5-HIAA, 5-hydroxyindoleacetic acid