Endocrine Abstracts

Introduction: Gilbert syndrome is a common autosomal dominant hereditary condition characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. Multiple endocrine neoplasia (MEN) is defined by the association of a neoplasia or hyperplasia of at least two endocrine glands and caused by multiple mutations. Rare cases of atypical MEN were reported in the literature. We report the case of a patient with a history of gilbert’s disease, toxic thyroid nodule and primary hyperparathyroidism who was found to have Cushing’s syndrome

Observation: It is a 60-year-old man, diagnosed at the age of 37 with Gilbert’s disease revealed by a jaundice. At that time, an hyperthyroidism due to a toxic thyroid nodule was diagnosed and treated by surgery. At the age of 42, he was diagnosed with primary hyperparathyroidism (calcemia=2.77 mmol/l, PTH=148 pg/ml) caused by a left lower parathyroid adenoma. He underwent a parathyroidectomy. During the work-up for multiple endocrine neoplasia, a 2 cm left adrenal nodule was discovered on an adrenal scan. Initial investigations had revealed a non-secreting adenoma and regular surveillance was carried out. Given the later appearance of hypertension and hypokalemia, a hormonal evaluation was performed again. The results of the hormonal investigation revealed normal levels of methoxylated derivatives of plasmatic catecholamines, as well as normal levels of aldosterone, renin, and the aldosterone-renin ratio in the plasma. However, blood cortisol after a Low-dose Dexamethasone Suppression Test was elevated at 137 nmol/l and ACTH levels was high (86 pg/ml). Diagnosis of ACTH-dependent Cushing’s Syndrome was retained. MRI of the pituitary gland revealed an arachnoid cyst. Body scan did not show any abnormalities.

Conclusion: Gilbert’s disease, toxic thyroid nodules, parathyroid adenoma, and Cushing’s disease are all separate medical conditions that may have different causes, symptoms and treatments. It is possible that they can be associated in some cases, but we could not confirm whether the patient had this multiple endocrine dysfunction as a coincidence or they had a common etiology.