Endocrine Abstracts

Introduction: Multiple Endocrine Neoplasms (MEN) are a group of rare hereditary tumours which have strong predisposition to endocrine organs. MEN1 is an autosomal-dominant inherited neoplasm with a broad genetic phenotype, characterised by synchronised or asynchronous triad neoplasms localised in the anterior pituitary, parathyroid and pancreas (Kamilaris and Stratakis, 2019; Li et al., 2022). Despite advances in the fields of diagnostic techniques and therapies, MEN1 continues to be associated with severe morbidity and mortality primarily due to malignant neuroendocrine tumours. Numerous combinations of both endocrine and non-endocrine manifestations have been described for MEN1 in literature (Singh, Mulji and Jialal, 2021; Newey and Newell-Price, 2022; Kamilaris and Stratakis, 2019).

Case report: 61 year old lady presented to hospital feeling unwell and complaining of occipital headaches, visual disturbance, abdomen pain secondary to constipation, vomiting, and generalised body aches. She had extensive past medical history including permanent pacemaker inserted in 2017, ischaemic heart disease (NSTEMI 2016), aortic regurgitation with dilated ascending aorta measuring 48mm (2021), chronic kidney disease (stage 4), hypertension, obstructive sleep apnea, atrial fibrillation, and primary hyperparathyroidism. Her blood test on admission showed severe hypercalcaemia with serum calcium of 3.6, urea 8.1, creatinine 182 and elevated PTH. She was then commenced on IV fluids, and IV pamidronate to manage her calcium levels. CT head was done which showed a pituitary macroadenoma. The CT scan was reviewed by the neurosurgery team and with view surgical resection. In subsequent multidisciplinary team discussions, it was decided that transsphenoidal debulking of the suprasellar tumour was to be undertaken in order to preserve her remaining vision. She successfully underwent microscopic transsphenoidal debulking of the large pituitary adenoma on 29/07/22. She is currently on Hydrocortisone 10mg and Levothyroxine. Histological analysis of the biopsy revealed that the tumour had the following features: The tumour is overwhelmingly SF-1 positive, and there were several tumour cells with occasional LH and very rarely FSH positive. In addition, there are scattered populations of pit-1 positive cells within the tumour, and these correspond to TSH-positive labelling.

Discussion: MEN-1 is associated with a variety of non-malignant adenomas, the majority of these abnormalities are non-functional (Yoshida et al., 2011). It is widely reported that the vast majority of cases initially present with primary hyperparathyroidism. Nevertheless, the main neoplastic symptom patients present with is usually due to tumour mass effect, some tumours secrete chemicals that often result in manifestation of endocrine paraneoplastic syndromes (Li et al., 2022).