ESPE Abstracts

Background: The risk of pancreatitis increases when triglyceride levels rise above 1 000 mg/dl. This requires particular attention in subjects with type 2 diabetes, which is accompanied by elevated triglyceride levels in one in every two patients. Apheresis, a treatment option in pancreatitis developing secondary to hypertriglyceridemia, is expensive and not available in every centre. Another option, heparin administration, may result in rebound hypertriglyceridaemia. Thirdly,...

Oedema is a care complication of insulin therapy. It affects mainly patients with newly diagnosed type 1 diabetes mellitus, poorly controlled diabetes mellitus or patients on large doses of insulin. There are only a few case report showing that it is an uncommon and probably an under-reported complication. Two mecanisms are known: the sodium and water retention and vasoactive mediators release. The oedema tends to develop shortly after initiation of insulin therapy and resolve...

Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was a...

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...

Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.Case 1: Seventeen years old girl was referred to our hospital due to menstrual irre...

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

Glucocorticoids regulate a wide range of biological processes including metabolism. Patients with adrenal insufficiency show impaired glucocorticoid biosynthesis either caused by adrenal defects (primary adrenal insufficiency) or by defects in the pituitary gland or hypothalamus (secondary or tertiary adrenal insufficiency). The systemic consequences of differentially disrupted steroid hormone biosynthesis remain unclear. Increasing evidence suggested steroid hormone precursor...

Glucocorticoids are important regulators of systemic homeostasis. However, the role of these steroid hormones has been mainly studied by using synthetic glucocorticoids or in states of glucocorticoid excess. Thus, the pathophysiologic consequences of cortisol deficiency on metabolic and biosynthesis pathways remain largely elusive. Zebrafish is a well-established vertebrate model for studying whole organism biology. Similar to humans, zebrafish are day active and the key gluco...

Background: Idiopathic intracranial hypertension (IIH) is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a significant cause of IIH in childhood especially in adolescents.Objective and hypotheses: IIH is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a sig...

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...