Endocrine Abstracts

Introduction: Glucokinase-MODY (Maturity onset diabetes of the young) results from heterozygous mutations in the GCK gene, impairing its enzymatic activity. GCK acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We describe two cases of MODY due to a GCK gene mutation not described until now.Clinical Case: A 63-year-old male is followed in our hospital for 30 years due to diabetes mellitus (DM). He was diagnose...

Introduction: Chronic somatotropin (ST) hypersecretion has systemic effects. It can cause important structural and functional cardiovascular (CV) changes, which can result in increased morbidity and mortality.Case report: A 48-year-old, male. followed by cardiology since 2005 for dilated cardiomyopathy (DCM) (Ecocardiography: moderately dilated left ventricle with globular appearance. Severely impaired global systolic function - LVEF 25%. Right cavities ...

Cushing’s disease presents with multiple symptoms of systemic glucocorticoid (GC) excess including increased skin thinning and poor wound healing (WH). Local GC concentrations are regulated by 11β-hydroxysteroid dehydrogenase (11β-HSD) isozymes converting inactive cortisone/11-dehydrocorticosterone to cortisol/corticosterone (11β-HSD1) or vice versa (11β-HSD2). We previously demonstrated elevated 11β-HSD1 activity during early WH, hypothe...

UVB exposure induces skin damage including dermal atrophy, telangiectasia, fragility and poor wound healing; symptoms also attributable to glucocorticoid (GC) excess (e.g. Cushing’s syndrome). In peripheral tissues including skin, GC availability is regulated by 11β-hydroxysteroid dehydrogenase (11β-HSD) types 1/2 which respectively activate/deactivate cortisol (and rodent corticosterone) from/to cortisone (and rodent 11-dehydrocorticosterone). Although we previ...

Background: Surgery has a significant role in the management of benign thyroid disease, necessitating pre-operative evaluation and appreciation of possible complications. These include hypoparathyroidism and hypothyroidism. We compared outcomes of our benign thyroid disease patients requiring surgery to national standards set by the British Thyroid Association.Method: Outcomes for patients operated between December 2010 and December 2012 with benign dise...

Background: The relationship between obesity, metabolic traits and adrenal incidentaloma (AI) in clinical studies have been discussed mainly in one direction: as the consequences of mild autonomous cortisol secretion in autonomous cortisol secreting AI (ACS) and as possible consequences of minimal hormonal secretion not detectable by current diagnostic methods in non-functioning (NF) AI. However, the observed anabolic and mitogenic effects of insulin on adrenal cortex from pre...

Sex steroid hormones play a pleomorphic role in preservation of BMD. The BMD, the blood circulating 25-hydroxyvitamin D [25(OH)D], testosterone and estradiol levels may decline with age and to contribute to bone fragility. Low vitamin D is associated with increased falls number and fractures.Recently, a new software solution, 3D-SHAPER - allows measurements of both trabecular and cortical bone as well as 3D images -, it incorporates a model-bas...

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClini...

Background: Sudomotor function is used to assessperipheral autonomic system. Electrochemical Skin Conductancemeasurement using electrochemical reaction betweenchloride ions in sweat and stainless steel plate electrodes is a simple, non-invasive and quick method. Several factors, including age, sex, BMI, glycemic status influence sweat function.Aim: Our aim was to determineprevalence of peripheral (DPN) and cardiac autonomic neuropathy (CAN) in hypertensi...

Introduction: Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. Steroid cell tumors of the ovary represent less than 0.1% of all ovarian tumors and are a subgroup of sex cord-stromal tumors. In most cases, patients present with androgenic clinical features.Case report: A 58-year-old woman complained of rapid onset of androgenic alopecia, excessive hirsutism and clitoromegaly. Endocrine assessment showed high levels...