A 27-year-old female presented with severe lethargy; she was found to have hypercalcaemia with corrected calcium of 3.27 mmol/L and biochemistry suggestive of primary hyperparathyroidism (PTH64.7 umol/L [1.57.5 pmol/L]). She had no notable family history of endocrinopathies or malignancies. Imaging suggested two possible parathyroid adenomas at the upper and lower poles of the posterior right lobe of the thyroid and she was referred for surgical intervention. Intra-operatively there were bilaterally enlarged parathyroid glands; the right lower gland was firmly adherent to the right lobe of thyroid with surrounding inflammatory and fibrotic changes. Frozen section of the right lower gland was suggestive of parathyroid carcinoma and therefore total parathyroidectomy, right hemithyroidectomy and thymectomy was undertaken. Subsequent histology confirmed a 3.7 gram parathyroid carcinoma from the right lower gland with hyperplasia affecting all the other glands. She had a turbulent post-operative period with severe hypocalcaemia causing laryngeal spasm. She also had recurrent severe vaginal blood loss that was due to endometrial polyps. Subsequent DNA analysis confirmed mutation of HRPT2, a tumour suppressor gene implicated in hyperparathyroidism jaw tumour syndrome (HPT-JT) and sporadic parathyroid carcinomas. HPT-JT is known to be associated with parathyroid, uterine and renal tumours and jaw fibromas. We note her history of endometrial polyps; MRI scan of the jaw/neck has not identified any associated jaw tumours which is often the case in this syndrome despite its eponymous stand. She has had further radiotherapy to the parathyroid bed and remains well under clinic follow up. This case highlights the importance of exercising vigilance in the diagnosis of primary hyperparathyroidism in the atypical young age group and emphasises the need to consider genetic causes/familial tumour syndromes such as MEN1 and HPT-JT in such cases. Correctly indentifying this has important implications with the increased risk of associated malignancies and from a hereditary aspect.
Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.