Endocrine Abstracts

Introduction: Neonatal diabetes mellitus (NDM) is a rare disease diagnosed within the first months of life that is usually permanent in 50% of cases. Heterozygous mutations of KCNJ11 and ABCC8 genes encoding the two Kir6.2 and SUR1 subunits of the b-cell ATP-dependent potassium channel have been associated with NDM, which is characterized by a successful response to sulfonylureas.Case report: We present a 32-year-old woman diagnosed wit...

Background: Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are respectively referred to as pheochromocytomas and paragangliomas. The classic triad of symptoms in patients with pheochromocytoma (PHEO)consists of episodic headache, sweating, and tachycardia. Approximately one-half have paroxysmal hypertension; the rest have either primary hypertension or normal blood pressure. Clinicians should always consider P...

Introduction: There are several endocrine causes of hyponatremia. SIADH is perhaps the most challenging, as patients do not always respond to initial correction measures and pharmacological treatment options are scarce. Urea is a viable option, but not commonly used.Methods: Analysis of patients with SIADH-induced hyponatremia (<135mEq/l) treated with urea per os in the Portuguese Institute of Oncology of Porto between August 2021 and Octobe...

Introduction: Nonislet cell tumour hypoglycemia (NICTH) is a rare complication of malignancy. The most common cause is overproduction of IGF2, which activates insulin receptors, resulting in hypoinsulinemic hypoglycemia. When a solitary fibrous tumor is responsible, it is called Doege-Potter syndrome.Case 1: 58-year-old woman, with a history of gastrointestinal stromal tumor and pleural solitary fibrous tumor with pulmonary and lymph node metastases. She...

Introduction: Bilateral adrenal masses may appear in the context of metastatic disease, adrenal congenital hyperplasia, primary tumors or infections, among others. Primary adrenal lymphoma is rare, accounting for approximately 1% of cases of non-Hodgkin lymphoma. Clinical case: 47-year-old woman, with a history of erythema nodosum and left hemithyroidectomy in the context of benign nodular disease. She presented with persistent fever and tiredne...

Introduction: Hypopituitarism is a rare diagnosis that is mainly due to primary pituitary neoplasms and their treatment. There are rarer causes such as hemorrhage/ischemia, traumatic brain injury, infections and infiltrative lesions. Clinical case: We herein present an 18-year-old male patient diagnosed with acute promyelocytic leukemia at the age of 14, with no evidence of central nervous system invasion in several lumbar punctures during his follow-up....

Introduction: Therapeutic approach of patients (pts) with metastatic renal cell carcinoma (mRCC) may include the use of biological agents such as m-TOR inhibitors: temsirolimus (TM) and everolimus (EV). Its use is associated with metabolic dysfunction, especially with everolimus: hyperglycemia (37% TM treated pts vs 72% EV treated pts), hypercholesterolemia (25% TM treated pts vs 81% EV treated pts) and hypertriglyceridemia (30% TM treated pts vs 73% EV treated pts). Discontin...

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

Introduction: Differentiated thyroid cancer (DTC) is rare in the paediatric population when compared to adults. Paediatric patients often present with advanced disease at diagnosis, characterized by multifocal disease, heightened lymph node involvement, and distant metastasis. Additionally, they face a higher risk of post-operative complications in comparison to adults. Despite that, paediatric DTC exhibits an excellent prognosis.Methods: A retrospective...

Introduction: Adrenocortical carcinoma is a rare type of cancer that usually has a dismal prognosis. The concurrent hormonal excess of some of these tumours can have an additional negative impact on patients´ morbidity and mortality.Clinical Case: We present the case of a 57-year-old woman diagnosed with stage IV adrenocortical carcinoma, with liver and bone metastasis, and associated ACTH-independent Cushing syndrome and hyperandrogenism. The patie...