Endocrine Abstracts

Introduction: Graves’ disease is an autoimmune condition with an estimated prevalence of about 2%, 5–10 times more frequent in females. A multifactorial nature is assumed, with genetic contribution accounting for up to 80% of the variability. Relevant genes includegeneral autoimmune risk loci, such as the HLA region, CTLA-4, PTPN22 and CD40, as well as thyroid-specific loci (thyroglobulin and TSH receptor genes). We report a particular case of Graves’ d...

Trabecular bone score (TBS) is a recent noninvasive analytical method, based upon DXA images, related to bone microarchitecture or bone quality; together, TBS and DXA may evidence bone strength. Falls and osteoporotic fractures increase with ageing, while both BMD and vitamin D levels slowly decline. Data about the influence of vitamin D on the TBS are scarce.Aim: To evaluate the influence of the blood vitamin D levels on the TBS in normal men.<p cla...

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is an uncommon severe systemic hypersensitivity drug reaction. Several studies have described the occurrence of newly developed endocrine autoimmune diseases following DRESS syndrome resolution. However, little attention has been paid by endocrinologists to this disorder. Here, we report a case of a patient with Graves’ disease following DRESS syndrome.Clinical case: ...

Background: Bilateral adrenal haemorrhage (Waterhouse–Friderichsen syndrome) is a rare consequence of sepsis (usually a result of meningococcal infection), with an estimated 15% mortality. Despite the predominant association with meningococcal infection, there are other recognised aetiologies: sepsis resulting from other organisms, and non-infectious causes, such as anticoagulant treatment, trauma and postoperative adrenal haemorrhage.Case report: A...

Introduction: Central and Peripheral Diabetes Insipidus are both rare conditions. Combined they may result in serious hypernatremia and water deficit that may pose a therapeutic challenge.Case report: MHBCR, a caucasian female aged 52, was admitted to the Endocrine Department because of serious hypernatremia. A previous diagnosis of pituitary failure and central diabetes insipidus was established 4 years before, after pituitary surgery for a non-secretin...

Paragangliomas (PGL) and pheochromocytomas (PHEO) are rare neuroendocrine tumors with an estimated prevalence of 1:6500 and 1:2500, respectively. Although most PGL/PHEO are benign, approximately 10% of PHEOs and 15-35% of PGLs have metastatic disease, which it is main cause of death, with 6 years of median survival. Objective: To characterize the metastatic PHEOs and PGLs from a single center. Methods: Retrospective analysis of clinical records of patients with metastatic PHEO...

Introduction: Clinically non-functioning pituitary tumors (NFPTs) lack clinical or biochemical evidence of pituitary hormone excess. Their clinical presentation is heterogeneous, including mass effect-related symptoms and/or hypopituitarism, or even no symptoms in incidentally-detected NFPTs. We aimed to evaluate the clinical presentation spectrum of NFPTs in a cohort of patients managed at our hospital.Methods: Clinical, demographic, biochemical and ima...

Introduction: The glycogen storage disease (GSD) is a rare disorder of carbohydrate metabolism resulting from the defective synthesis and utilization of glycogen. GSD-1a is a subtype of GSD caused by a deficiency in glucose-6-phosphatase activity, which leads to decreased conversion of glucose-6-phosphate to glucose. The dominant features at presentation are hypoglycemia and lactic acidemia. Long-term complications include blood glucose lability, lactic acidemia, short stature...

Phaeochromocytoma in pregnancy is an extremely rare condition. Early recognition can largely decrease maternal and fetal mortality rates. As symptoms of phaeochromocytoma are similar to those of other more common causes of hypertension during pregnancy, timely diagnosis is a challenge. There is no consensus in literature about the specific treatment nor about the optimal delivery timing or route. Case of a 32 years old woman with a single pregnancy of 30 weeks and 3 days admit...

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...