Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare disease, defined as a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodeno-pancreatic endocrine tissue. This is an inherited disorder. However, sporadic cases account for 8–14%. We here report a case of MEN1 revealed by vitamin B12 deficiency.

Observation: A 37-year-old young woman admitted to our department of Internal Medicine for macrocytic anemia. Physical examination was normal. The biological assessment showed a macrocytic anemia: hemoglobin: 7.4 g/dl, mean cell volume: 112.4 fl, hyperbilirubinemia: 42 µmol/l, transaminase elevation: 132 U/l. Thyroid analysis was normal, calcemia at 2.53mmol/l with elevated parathyroid hormone: 154 pg/ml (normal range: 10–65 ng/l). A vitamin B12 deficiency was diagnosed <50 pg/ml and the serum folate was normal. The oeso-gastro-fibroscopy showed gastric atrophy and a 6 mm nodule the biopsy examination after resection concluded of a neuroendocrine tumor. The thyroid ultrasound revealed an EU-TIRADS 3 nodule and a left parathyroid nodule measuring 11 × 5 mm. The assassement of chromgramine A was elevated: 150 mg/ml (normal <102 ng/ml) and the urine dosage of 5-hydroxyindolacetic acid (5HIAA) was normal: 24 µmol/24 h (normal <40 µmol/24 h). A thoraco-abdominal CT scan revealed hepatomegaly at 21 cm and splenomegaly at 14.3 cm. Then, our patient was diagnosed with MEN1 associated with Biermer disease, she was treated with injection of vitamin B12 and she was proposed for removal oft he parathyroid nodule.

Conclusion: We report a case of a patient with who initially presented with vitamin B12 deficiency and. This case revealed the rare co-existence of MEN 1 with hyperparathyroïdism, which has rarely described in the literature. A thorough evaluation is necessary to avoid a delay in the correct diagnosis and treatment of the underlying conditions.