Endocrine Abstracts

Introduction: Adrenal schwannomas are very rare tumors that are difficult to diagnose properatively. They represent only 1–3% of all retroperitoneum masses.Case report: A 30-year-old woman was referred to the outpatient to evaluate an adrenal mass incidentally found on abdominal ultrasonographic images obtained for self-limit abdominal pain. Her medical and family histories were unremarkable. Clinically asymptomatic, only referred amenorrhea for two...

Introduction: Paragangliomas are neuroendocrine tumors derived from the extra-adrenal paraganglionar system and are closely related to pheochromocytoma. About 50% are associated with genetic syndromes.Case report: We report a case of a sporadic paraganglioma incidentally found in a 30-year-old man, with no family or personal history of interest, in the context of abdominal pain study where a mass of 5×3×3 cm is detected in the abdominal aorto-c...

Cushing’s syndrome is associated with life-threatening complications, as well as high rates of perioperative mortality and morbidity. Authors present clinical scenarios, in which one should consider the usage of intravenous etomidate as an accurate, safe and effective drug for hypercortisolaemia.Case 1: 23-year-old female with severe Cushing’s syndrome due to metastatic adrenocortical carcinoma was admitted to the Department of Endocrinology. S...

Introduction: Most of pheochromocytomas (PCC) and paragangliomas (PGL) are sporadic. However, up to 40% of them have an inherited origin due to germline mutations in at least 15 known PCC/PGL genes, being the VHL and SDHx genes the ones most frequently affected. The fumarate hydratase (FH) is a Kreb’s cycle enzyme encoded by the FH gene.Its inactivating mutations increase intracellular levels of fumarate, leading to tissular pseudohypoxia and transcription of genes involv...

Introduction: Just-glomerular tumours (reninomas) are rare causes of secondary hypertension (HT). They typically present with difficult to manage-HT, hypokalemia, hyperreninemia and secondary hyperaldosteronism. They are usually small lesions (<1 cm) and are more common in adolescents or young adults. Despite being rare, they should be considered in the diagnostic approach of secondary HT, as it they are a potentially curable cause.Case report: Femal...

Testicular adrenal rest tumours (TARTs) are benign tumours deemed to originate from ectopic adrenal cells that descend with the testes during fetal development. These cells grow under chronic ACTH stimulation, typically in patients with congenital adrenal hyperplasia (CAH). TARTs have also been rarely described in other conditions characterised by chronically elevated ACTH, such as autoimmune primary adrenal insufficiency (PAI). These are benign lesions, but could be misdiagno...

Introduction: Glycogen storage disease type Ia is a rare genetic disorder that develops due to deficient activity of the enzyme glucose 6-phosphatase and manifests clinically early in life with hypoglycemia and failure to thrive, as well as with organ dysfunction, due to excess glycogen accumulation, including hepatomegaly and kidney dysfunction. Endocrine manifestations are commonly encountered in these patients. However, due to their rarity, endocrine dysfunction has not bee...

Introduction: Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa in association with various endocrine and non-endocrine tumors. The disease can be inherited in an autosomal-dominant fashion or occur sporadically due to novel mutations in the PRKAR1A gene. Primary pigmented nodular adrenocortical disease (PPNAD) is a common endocrine manifestation of CNC.Case description: A 20-year-old wom...

Introduction: We report a case of adrenal tumor recurrence after bilateral adenomectomy for Cushing’s syndrome.Case report: A 44-year-old female diagnosed in June 2014 with Cushing’s syndrome caused by bilateral adrenocortical tumors, which were identified by an abdominal CT (right tumor-2.6/ 2/1.8 cm, left tumor-3/2/2 cm). At presentation, the patient had typical signs and symptoms of hypercortisolism and complications such as: arterial hypert...