A case of adrenal Cushing’s syndrome and primary hyperparathyroidism due to an atypical parathyroid adenoma

Abstract

Cushing’s syndrome is a rare disorder of cortisol excess and is associated with significant morbidity and mortality. Hypercalcaemia due to hyperparathyroidism is a common condition; however, in 10% of young patients, it is associated with other endocrinopathies and occurs due to a genetic variant [e.g. multiple endocrine neoplasia (MEN) type 1 (MEN1), MEN2 or MEN4]. We report the case of a 31-year-old woman who was referred to the endocrinology out-patient service with an 8-month history of hirsutism, amenorrhoea and weight gain. Her biochemical work up was significant for adrenocorticotropic hormone (ACTH)-independent Cushing’s syndrome. Radiological investigations revealed an adrenal adenoma. During investigation she was also found to have primary hyperparathyroidism due to a parathyroid adenoma. Pre-operatively, the patient was commenced on metyrapone and both her adrenal and parathyroid lesions were resected successfully. There were several concerning findings on initial examination of the parathyroid tumour, including possible extension of the tumour through the capsule and vascular invasion; however, following extensive review, it was ultimately defined as an adenoma. Given the unusual presence of two endocrinopathies in a young patient, she subsequently underwent genetic testing. Analysis of multiple genes did not reveal any pathogenic variants. The patient is currently clinically well, with a normal adjusted calcium and no clinical features of cortisol excess. She will require long-term follow up for recurrence of both hypercalcaemia and hypercortisolaemia.

Atypical parathyroid adenoma: Series of two consecutive cases from a tertiary care hospital in Qatar

“…However, still others reported an ATA in a young adolescent girl with poor respiratory reserve, where en bloc resection of the right parathyroid with right sided hemithyroidectomy was undertaken using local anaesthesia [2] . For both our cases, we conducted rapid intra-operative parathyroid hormone (PTH) during surgery that showed a sharp drop in PTH level that satisfied the Miami Criterion (>50 % PTH drop from either the greatest pre-incision or pre-excision PTH measurement in a blood sample 10 min after complete resection of a hyperfunctioning gland) for successful parathyroid gland resection, in line with others [9] . In addition, intraoperatively, we also undertook a frozen section which confirmed that the excised specimen is parathyroid gland for both cases.…”

“…For age, although a study reported a mean age of 60 ± 13 years [1] , the age range is wide, where a 75-year-old female with ectopic APA has been described [8] , while another report depicted a 16-year-old adolescent girl who presented with severe PHPT manifestations due to APA [2] . Nevertheless, patients with an inherited condition causing APA present much younger, often in third decade [9] .…”

“…In terms of surgery, for both our cases, we undertook focused exploration and excision of the APA under general anaesthesia. Others described a four-gland neck exploration and excision of the right lower parathyroid gland for a patient with ATA [9] . However, still others reported an ATA in a young adolescent girl with poor respiratory reserve, where en bloc resection of the right parathyroid with right sided hemithyroidectomy was undertaken using local anaesthesia [2] .…”