Endocrine Abstracts

Introduction: Takotsubo cardiomyopathy or stress-induced cardiomyopathy (SICM) is a rare condition. Even more rare cases associated with glucocorticoid deficiency have been described.Case report: AAGM, a 74-year-old man was admitted to the inpatient Endocrine Department because of suspected panhypopituitarism. Six months before the diagnosis of SICM was established after an acute coronary syndrome episode with no lesions found in coronary angiography and...

Introduction: Von Hippel–Lindau disease (VHLD) is an autosomal dominant neoplastic syndrome characterized by the development of multiple cancers and cists, including pheochromocytoma and islet cell tumors. Screening is mandatory for family members of index cases.Case report: A 23-year-old male Caucasian was referred to Endocrine Department because of the recent genetic diagnosis of VHLD during familiar screening. The mutation c.482G>A(p.Arg161GI...

Introduction: Hyponatremia is defined as a serum sodium level of <135 mEq/l and it is considered severe when the serum level is below 125 mEq/l. In patients with diabetes insipidus treated with desmopressin, it is usually secondary to desmopressin overmedication.Case report: A 79-year-old man, with a past history of post traumatic central diabetes insipidus treated with desmopressin. The patient had multiple admissions to the hospital due to hyponatr...

Background: Polycystic ovary syndrome (PCOS) constitutes the most common endocrine disorder in women of reproductive age. Recently, the potential influence of endocrine disrupting chemicals (EDCs) on the development of PCOS has been suggested. The aim of the present study is to determine whether dihydrotestosterone equivalent concentration (DEQ) representing total androgenic activities including androgen derivatives from EDCs measured by chemically activated luciferase gene ex...

Oxidative stress is regarded as a pathogenic factor in hyperthyroidism. IL6 has been described as acting as a protective intrahepatocellular against oxidative stress and mitochondrial dysfunction. On the opposite way leptin has been shown to increase oxidative stress. The impact of thyroid hormones on circulating cytokines levels has been demonstrated with conflicting results both in human and rats. Most of the studies concerned hyperthyroidism showed increased levels of IL6 c...

Pheocromocytoma is a catecholamine-secreting tumor that arises from chromaffin cells of the adrenal medulla. In general, they are unilateral and the treatment of choise is complete surgical resection. Surgery and other medical procedures such as chemotherapy or radiotherapy may result in massive catecholamine release that can be fatal. Some form of preoperative pharmacologic preparation is indicated for all patients to control blood pressure, arrhytmia and promote intravascula...

The melanocortin-2-receptor accessory protein (MRAP) is a type I integral transmembrane protein required for the functional expression of the melanocortin-2-receptor (MC2R).Here we have investigated the expression and biochemical properties of mouse MRAP. Initially, mouse MRAP and MC2R tissue expression were determined by RT-PCR, being only present in the adrenal gland and fat tissue. Then, by in situ hybridisation studies using a full-length MRAP...

The melanocortin-2 receptor accessory protein (MRAP) is a type I integral membrane protein that is required for cell surface expression of the melanocortin 2 receptor (MC2R). Mutations in the N-terminal region of this protein are associated with familial glucocorticoid deficiency type II (OMIM#607398).Here we have investigated the expression and biochemical properties of MRAP using polyclonal antibodies to a conserved peptide sequence in the N-terminal r...

Anaplastic thyroid cancer (ATC) is the most aggressive and lethal form of thyroid cancer. ATC rarely develop as ex-novo lesions, but rather evolves from pre-existing well-differentiated thyroid cancer (DTC) through a de-differentiation process that leads cells to acquire an aggressive phenotype. ATC are refractory to radiotherapy, having lost the expression of Sodium-Iodine Symporter, and often also to standard chemotherapy. Moreover, debulking surgery is frequently difficult,...

Introduction: Cushing syndrome is a complex disease with multisystemic manifestations. It includes skin and connective tissue abnormalities, in which glucocorticoids reduce the synthesis and production of collagen, resulting in skin thinning, subcutaneous vascular tissue frailty and mucocutaneous bleeding. Case report: A 59-year-old woman with history of hypertension, type 2 diabetes, hypercholesterolemia, and chronic kidney disease, was admitted to the ...