Endocrine Abstracts

Objectives: Medullary thyroid carcinoma (MTC) has varying clinical course with familial cases (fMTC) diagnosed earlier than sporadic ones (sMTC). We examined the presentation of these entities in our centre.Methods: 223 MTC patients (familial: 42.6%, males: 36.8%) were followed for 0.9–30 years (mean 6.23±5.9, median 4.0 years). 44 (19.7%) fMTC patients were operated after genetic screening.Results: Median age at diagnosi...

Introduction: Adrenal masses usually represent benign and nonfunctional adrenal adenomas however, primary or metastatic malignancy should also be considered. Discovery of an adrenal mass needs further evaluation in order to exclude malignancy and hormonal secretion. Primary adrenal melanoma is an extremely rare entity, while metastases of cutaneous melanoma to the adrenals occur much more often. We present a rare case of a possibly primary adrenal malignant melanoma with imagi...

Background: In subjects with long duration of type 2 diabetes (T2DM), strict glycaemic control fails to decrease the incidence of cardiovascular disease (CVD). Impaired vascular indices have been associated with adverse cardiovascular prognosis in T2DM. We examined whether intensive glycaemic control in T2DM patients improves vascular indices.Methods: We studied 68 T2DM patients (64±9 years, 52% males, and T2DM duration 14±10 years) with poor g...

Introduction: In glycolysis, glucose is converted into pyruvate. Patients with sepsis are prone to numerous metabolic alterations, including changes in carbohydrate metabolism.Aim: To assess glucose metabolism in septic patients during the first day of ICU hospitalisation and evaluate this vis-à-vis shock resolution.Subjects and methods: Ten patients with septic shock during the first day of ICU hospitalization were studied; m...

Introduction: The cytokine tumor necrosis factor alpha (TNFα) is encoded by the TNFα gene and stimulates bone resorption. TNFα is involved in the pathogenesis of bone loss associated with estrogen deficiency. Polymorphisms in the TNFα gene have been associated with bone mineral density (BMD) in different populations.Objectives: The present study aimed to explore the influence of the single-nucleotide polymorphism <em...

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI.Clinical history: A 14-year-old male patient, with short stature, growth arrest after 12 years and weight gain since age of 9. At physical examination, he had mo...

Introduction: The interplay of cortisol (F) and adipose tissue is complex and in many aspects is still obscure. Plasma F has been shown to be positively associated with lipolysis.Aim: To study in adipose tissue indices of lipolysis vs tissue F with microdialysis (MD).Subjects and methods: We studied 46 mechanically ventilated patients with a diagnosis of septic/non-septic shock, systemic inflammatory response syndrome or s...

Introduction: The majority of adrenocortical carcinomas (ACC) autonomously produce steroids. However, urinary steroid profile of patients with ACC revealed that these tumors secrete and release predominantly intermediate metabolites. This steroid secretion pattern could be attributed to the undifferentiated status of the tumor cells expressing an incomplete pattern of enzymes involved in the steroidogenic cascade.Aims: Our study aim was to analyze the ex...

This study aims to evaluate patients who require PTH-treatment among the referral population with hypoparathyroidism.Methods: The information was collected from the registry database of chronic hypoparathyroidism, which was initiated by the National Medical Research Centre for Endocrinology (NMRCE).Results: Among 194 cases of hypoparathyroidism referred to our clinic over 2 years (2017–2019), eig...