Endocrine Abstracts

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In february 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...

Introduction: Diabetic muscle infarction (DMI) is a rare complication of long-standing, poorly controlled diabetes, and it’s more common in patients with micro-vascular complications. Herein, we present a case of DMI occurring in patient on hemodialysis.Case presentation: A 44-year-old man on maintenance hemodialysis presented with an acutely painful and swelling in his left calf. He had a 21-year history of poorly controlled type one diabetes, with...

Introduction: Diabetic muscle infarction (DMI) is a rare complication of long-standing, poorly controlled diabetes, and it’s more common in patients with micro-vascular complications. Herein, we present a case of DMI occurring in patient on hemodialysis.Case presentation A 44-year-old man on maintenance hemodialysis presented with an acutely painful and swelling in his left calf. He had a 21-year history of poorly controlled type one diabetes, with micro-vascular complica...

Introduction: Ganglioneuroma (GN) is a benign, well-differentiated nerve tumor composed of mature sympathetic ganglion cells and nerve fibers, and most commonly located in the posterior mediastinum and retroperitoneum. GN’s are rarely found in the adrenal gland. This tumor is usually asymptomatic and, in the majority of cases, detected incidentally. The diagnostic confirmation is histologic. We report a case of adrenal GN revealed by an adrenal incidentaloma.<p class=...

A 39 years old lady who started to develop hypoglycemia three month following gastric bypass surgery. She is known to have Type 2 DM, dyslipidemia hypertension and Hirsutism. Her weight on presentation was 93.5 kg (pre operation was 104 kg) and Ha1c was 6% (pre operation was 10.5%). She was off diabetes medications. Hypoglycemia mainly fasting some readings < 3 mmol/l, with symptoms (diaphoresis, fatigue and weakness) but sometime hypoglycemia occur 2–3 h post prandia...

Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and Kallmann syndrome (KS) represent two rare phenotypic presentations of humans with hypogonadotropic hypogonadism secondary to GnRH deficiency. KS/nIHH is genetically heterogeneous and is characterized by incomplete penetrance and variable expressivity. Some genetic variants may play the role of modifier alleles or act as ‘second hits’, providing an explanation of this phenotypic variability. In addition to ...

Introduction: Severe thyroid disorders are usually associated with myopathy. Muscle weakness may occur in both hypothyroidism and hyperthyroidism. However, only hypothyroid patients experience increase in creatine kinase levels, depicting destruction of muscle fibers. There were recently some reports showing the lowering in serum concentrations of large sarcomere proteins – titin (TTN) and dystrophin (DMD) in patients with hypo- and hyperthyroidism....

Background/aims: Oxidative stress and inflammation play a role in development of diabetic kidney disease. Postprandial hyperglycemia and hyperlipidemia are speculated to be associated with increased oxidative stress and inflammation. The aim was to examine the effect of meal composition on post-prandial risk markers for kidney disease among those with type 2 diabetes (T2D) and healthy subjects (HS).Material/methods: On four occasions 21 patients with T2D...

Abstract: A 55-year-old woman was admitted to our hospital due to severe hyperthyreosis. She started to feel symptoms of hyper-metabolism four months prior to hospitalization. At that time she was admitted in regional hospital and had gastroenterological examination because of diarrhea. Crohn’s disease was diagnosed and therapy started. At the same time, thyrosupressive therapy started. She had a history of hyperthyreosis thirteen years ago, duodenal hemorrhage ulcer, hyp...

The G protein-coupled receptor PROKR2 play an important and not fully understood role in GnRH-secreting neurons physiology. Indeed, mutations of PROKR2 in humans are known to cause Congenital Hypogonadotropic Hypogonadism (CHH) although with an important reproductive and olfactory phenotypic heterogeneity. The attempt to mimic PROKR2 human allelic variants in mouse model has so far failed to give insights into the mechanisms involved. The zebrafish (ZF), due to its amenability...