Endocrine Abstracts

A forty-three year old woman (SR) presented to her GP in 2004 with persistent back pain. Following MRI, an incidental right adrenal mass was discovered. Laparoscopic adrenalectomy was performed in the private sector and histology was consistent with a phaeochromocytoma. No further biochemical investigations were performed at that stage. Six years later, her fourteen year old daughter presented with a solitary neck lump. Fine needle aspiration was inconclusive and subsequent left lobectomy showed medullary thyroid carcinoma. Plasma calcitonin was raised (13.1 ng/l; NR 0.0 to 5.5 ng/l) and completion thyroidectomy was performed. Urine catecholamines were normal. In light of the clinical suspicion of MEN2, they were tested and found to have the RET oncogene. SR underwent a prophylactic thyroidectomy which showed C-cell hyperplasia. Subsequent family screening detected the RET oncogene in SR’s mother, brother and nephew. The 73 year old mother had suffered unexplained diarrhoea, hypertension and palpitations for years and abdominal CT in 2009 had commented on a 2 cm right incidental adrenal lesion which was not further investigated. Octreotide scan showed bilateral uptake in the adrenals and catecholamines were elevated consistent with bilateral phaeochromocytomas. There was also increased uptake in the left lobe of the thyroid gland with raised calcitonin. She underwent a total thyroidectomy which showed medullary thyroid cancer and she is considering bilateral adrenalectomy. SR’s brother was also found to have significantly elevated catecholamine and calcitonin levels and has undergone uneventful bilateral adrenalectomy and total thyroidectomy. His 8 year old son has the RET gene and has recently undergone prophylactic thyroidectomy. This family illustrates the importance of biochemical screening of adrenal incidentalomas, as well as family screening in apparently sporadic phaeochromocytomas. Early diagnosis and screening may prevent significant morbidity not just in the individual but has implications for the entire family if the RET gene is found.

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.