A Rare Presentation of multiple endocrine neoplasia with Concurrent Aldosterone-Producing Adrenal Adenoma: a case report

Abstract

Background Multiple endocrine neoplasia type 1 (MEN1) is a disorder characterized by the occurrence of tumours in two or more endocrine glands of a patient. Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in patients with adrenal apparent adenoma. Case presentation We present the case of a 52-year-old male was admitted to Army Specialty Medical Center because of neck pain that had persisted for 4 months and aggravated muscle pain for 3 days. After admission, the patient showed hypertension and hypokalemia. The plasma aldosterone levels increased, and the renin levels decreased. Adrenal contrast-enhanced CT showed a nodule shadow on the left external branch of the adrenal gland, suggesting the possibility of adrenal adenoma. Other imaging examination suggested that the patient had thyroid nodules, parathyroid nodules, pituitary microadenomasm. The adrenal vein sampling (AVS) results indicated dominant secretion from the left adrenal gland. The patient was diagnosed as: 1. Primary aldosteronism-induced hypertension; 2. multiple endocrine neoplasia; 3. rhabdomyolysis; 4. hyperlipidemia; 5. fatty liver disease; 6. lumbar disc herniation; 7. fascia inflammation of the lower back. The Whole-exome sequencing of the peripheral blood from the patient showed the heterozygous variant of the genes CACNA1D and MYH8. The patient was performed left adrenal resection surgery in the Urology Department. Postoperative pathological specimen examination suggested a (left adrenal tumor) cortical adenoma. He achieved complete biochemical success and partial clinical success. Conclusions Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new heterozygous variant of the genes CACNA1D and MYH8, at least in the rare subset of MEN1 associated with primary aldosteronism.