Endocrine Abstracts

A 52-year-old male patient first presented in 2007 with symptoms of polyuria, polydipsia and muscle pains. Initial investigations revealed a corrected Ca²⁺: 3.45 mmol/l and PTH: 168 pmol/l. He was also vitamin D depleted so a diagnosis of severe primary hyperparathyroidism on a background of vitamin D deficiency was made and further investigations were requested to confirm the diagnosis. Unfortunately, the patient failed to attend all subsequent follow up appointments. He presented again in 2010, this time with a 1-year history of 25 kg weight loss, constipation, dysphagia to solids and nocturia. On examination, he was cachectic and pale with a firm, solitary nodule in the left anterior triangle and small cervical and inguinal lymph nodes. Biochemical investigations revealed a corrected Ca²⁺: 3.40 mmol/l, PTH>263 pmol/l, ALP: 1,075 IU/l and Cr: 136 μmol/l. Ultrasound of the kidneys demonstrated increased echogenicity of the parenchyma bilaterally consistent with chronic kidney disease. X-ray of hands showed cortical re-absorption consistent with hyper parathyroid changes. He was admitted to the endocrinology ward to pursue further investigations urgently including a neck ultrasound with FNA, DEXA and MIBI scan. These investigations confirmed the diagnosis of parathyroid carcinoma with jaw tumour syndrome. He underwent Para thyroidectomy. He also received external beam radiotherapy post operatively due to incomplete surgical excision. He remained clinically and biochemically stable until 2014 when he re-presented with symptomatic hypercalcaemia and a high PTH of 144 pmol/l and was readmitted for bisphosphonate infusions and denosumab therapy. He had developed back pain and an MRI spine showed a sclerotic lesion on T8, which was biopsied only to confirm a parathyroid carcinoma metastases. After discussion at the thyroid MDT he was referred for urgent laminectomy under the neurosurgical team in addition to radiotherapy. There were no complications postoperatively and his corrected calcium after surgery has remained normal at 2.41 mmol/l with PTH: 9.6 pmol/l, which remains high due to secondary hyperparathyroidism from chronic kidney disease. The patient was referred for genetic testing and he was found to have a CDC73 deletion so his family members have been referred for further genetic screening and clinical evaluation.