We present the case of a clinical diagnosis of Multiple Endocrine Neoplasia-1 (MEN-1) in a 29 year old woman.
CH is a 29 year old Thai National who relocated to Australia in 2015. Her past medical history included obesity with BMI of 31kg/m2 and transgender (M to F) on the oral contraceptive pill.
CH was admitted with a perforated duodenal ulcer and found to have hypercalcaemia due to primary hyperparathyroidism (calcium 2.85mmol/L, PTH 15.5pmol/L, and 24 hour urine calcium 14.0mmol/day).
Pituitary MRI demonstrated two cystic hypo-enhancing lesions suggestive of a complex pituitary adenoma. The only significant pituitary hormone abnormality was mildly elevated prolactin at 1002 mIU/L (50-300).
Morning cortisol was 394nmol/L (150-52) and ACTH was 6.6pmol/L (0-12), however 24 hour urine free cortisol was significantly elevated at 1314nmol/L (<250).
A 1mg dexamethasone suppression test demonstrated partial suppression with a cortisol of 109nmol/L (<50nmol/L).
A DOTATATE PET CT demonstrated three discrete prominent foci of increased uptake in the pancreas. The lesions were not seen on pancreas MRI but were visualised on endoscopic ultrasound and in the clinical setting, are highly suggestive of pancreatic neuroendocrine tumours.
Gastrin was elevated at 426pmol/L (6-55), as was chromogranin A at 1076ng/ml (<102), however these may be falsely elevated in the setting of PPI infusion.
Fasting blood glucose levels and other gut hormones were normal.
In summary this case demonstrates a clinical diagnosis of MEN-1 with parathyroid, pituitary and pancreas involvement and potential Cushing’s in a 29 year old woman. DNA MEN-1 confirmation is pending.
The case raises the following discussion points: