We present a 33-year-old lady who was diagnosed with primary hyperparathyroidism in 2004 (aged 22). Investigations showed parathyroid hyperplasia and she underwent a parathyroidectomy of three glands with one parathyroid gland implanted into each thigh. She then presented in 2013 with symptoms in keeping with hypercalcaemia. Initial investigations included ultrasound of thyroid and parathyroid glands which showed no evidence of parathyroid adenoma and incidental tiny cysts on the thyroid gland were the only positive finding. She was, however, found to have a functioning parathyroid adenoma of the gland in her right thigh identified on SPECT/CT scanning. This was confirmed with MRI. Interestingly, she went on to have the gland successfully removed by an ENT surgeon. Investigations at the time of re-presentation found her to be positive for MEN1 (c-537G>C heterozygous substitution). This was the index case for a family of patients with MEN1 in the south of Glasgow.
Baseline investigations at time of diagnosis identified a hypervascular tumour on MRI in the distal body of the pancreas, suspicious of an insulinoma. Gut profile testing was satisfactory, and fasting glucose levels were normal. MRI of the brain showed a cystic pituitary macroadenoma, which she remains under surveillance of, as her visual fields are normal. Pituitary axis testing remains within normal limits, other than a slightly raised prolactin level (957 m/Ul).
As well as an interesting presentation of recurrent hypercalcaemia with a final diagnosis of MEN1, this case raises an important discussion point. All young people presenting with primary hyperparathyroidism should be screened for MEN (1 and 2). Diagnosis in this lady allowed a family of MEN1 sufferers to be identified through genetic testing.