Endocrine Abstracts

Introduction: Although dipeptidyl peptidase-4 (DPP-4) inhibitores are generally safe and are associated with less side effects compared to other oral antidiabetic medications, they could also be associated with some side effects including skin rash. Herein we report the first case of a type 2 diabetes patient who developed a painfull maculopapular rash induced by linagliptin, a widely used DPP-4 inhibitor.Case presentation: A-54-year old female patient w...

Introduction: Obstructive sleep apnea syndrome (OSAS) is a common disorder whose prevalence is linked to an epidemic of obesity. OSAS is caused by recurrent episodes of upper airway obstruction during sleep, leading to reduction or cessation of the airflow. Studies have shown a strong association among OSAS and cardiovascular morbidity and mortality. Therefore, currently we performe overnight polysomnograpy in all patients with obesity in our outpatient clinic. In order to obs...

Introduction: Due to the risk of thyroid storm, achievement of euthyroid state is necessary in patients with thyrotoxicosis undergoing surgery. However, euthyroid state could not be always achieved by antithyroid drugs. Therefore, therapeutic plasmapheresis (TPE) can be used for this purpose.Case 1: A-58-year old male patient was admitted to emergency department with diabetic ketoacidosis (DKA) induced by amiodarone induced thyrotoxicosis (AIT). He had a...

BackgroundChronic hypoparathyroidism (hypoPT) predisposes patients to comorbidities such as cardiovascular/cerebrovascular disease, infection, mental illness, and renal impairment often associated with an increased burden to healthcare systems. Suboptimal disease control is common with standard therapy. The objective of this study was to quantify and assess differences in the clinical and economic burden on secondary care among patients with post-surgica...

The relationship between the level of genetic variation in CYP17, PSA genes and prostate cancer has been extensively studied but the results are still unclear. A 450c17a (CYP17) polymorphism A1/A2 was described to be significantly associated to prostate cancer. A SNP in the promotor PSA gene is an A to G substitution at position −158 (G158A) was proposed to interact differently with AR, thereby modifying the expression pattern and occurrence of prostate cancer.<p cla...

Objective: Acromegaly is associated with increased cardiovascular morbidity and mortality. But the data about the evaluation of coagulation and fibrinolysis in acromegalic patients is very limited and to our knowledge, platelet function analysis has never been investigated. So we aimed to investigate the levels of protein C, protein S, fibrinogen, antithrombin 3, and platelet function analysis in patients with acromegaly.Methods: Thirty-nine patients wit...

Idiopathic granulomatous hypophysitis is a very rare inflammatory disease of the pituitary gland. Primary hypophysitis represents a difficult diagnostic challenge because it can imitate pituitary adenomas clinically and radiologically. The diagnosis is usually made histologically by hypophysectomy. We herein present a rare case of idiopathic granulomatous hypopysitis diagnosed primarily by pituitary biopsy.Case: A 50-year-old female patient presented wit...

Neuroendocrine tumours (NETs) of unknown primary (UP-NETs) represent up to 22% of NETs. Primary site identification enables patients to access appropriate treatment but is not always possible by immunohistochemistry or imaging. Given the epigenetic dysregulation of NETs, we aimed to use methylation array data to determine UP-NET tissue-of-origin. DNA from formalin-fixed paraffin embedded tissue from 76 pancreatic NET (PanNETs) (54 training and 22 validation samples) and 53 sma...

Congenital hyperinsulinism (CHI) is a cause of severe and persistent hypoglycaemia due to unregulated insulin secretion from pancreatic β-cells. Mutations in the ABCC8 and KCNJ11 genes are the most common cause of medically unresponsive CHI. Histologically there are three major subgroups, focal, diffuse and atypical. The pathophysiology of focal CHI is complex and involves a two hit process with the patient firstly inheriting a paternal ABCC8/KCNJ11 m...

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period.Aims: To report the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined ...