Endocrine Abstracts

Introduction: Multiple endocrine neoplasia (MEN) is a rare genetic syndrome characterized by occurrence of tumors involving two or more endocrine glands. Four types are described: MEN1, MEN2, MEN3 and the recently identi&#-1279;ed MEN4. Due to the complexity of the syndromes, it is difficult to manage these patients. Our objective was to describe the clinical features of individuals from 7 families with a diagnosis of MEN1 or MEN2 and identify current challenges in clinical practice.

Case series

1. Female, 48, presented with appendicitis at the age of 40. Pathology reported a neuroendocrine tumor (NET). Later, she was diagnosed with primary hyperparathyroidism (PH) and pituitary adenoma. The diagnosis of MEN1 was made at 44. Both her children have the mutation.

2. Female, 38, presented with prolactinoma at 18 and was prescribed dopamine agonists. Due to infertility, she was referred to assisted reproductive technology and later was diagnosed with PH and NET. The diagnosis of MEN1 was made at 37.

3. Female, 66, presented with acute pancreatitis at the age of 49. An abdominal MRI revealed nodular lesions of the pancreas. The pathology reported NET. Later, she was diagnosed with PH and pituitary adenoma. The diagnosis of MEN1 was made at 59. She has two children, 1 with the mutation.

4. Female, 50, presented with hypothyroidism. A thyroid ultrasound revealed a large nodule. The cytology reported medullary thyroid carcinoma (MTC). The diagnosis of MEN2 was made at 46. She has five children, 2 with RET mutation. Both underwent prophylactic surgery.

5. Female, 74, presented with goiter and had total thyroidectomy (TT). The cytology reported MTC. The diagnosis of MEN2 was made at 68. She has 3 children and 4 grandchildren with the mutation. One of them, 18 years, rejected prophylactic surgery. All other family members underwent TT.

6. Male, 60, presented with MTC and pheocromocytoma at 40. Genetic testing revealed no RET mutation. He has 3 children.

7. Male, 58, diagnosed with acromegaly at 36 years, had surgery and is treated with somatostatin analogs. At 46, he underwent left nephrectomy for a renal mass. At 48, he presented PH. Genetic testing revealed no MEN1 mutation. Suspicion of MEN4.

Discussion: From our series, the main clinical challenges were:

Pregnancy in MEN1 patients (case 2);

Rejection of a prophylactic surgery (case 5);

Clinical diagnosis and surveillance after a negative genetic screening (cases 6–7).

We reviewed the literature and discuss the management of these patients.