ESPE Abstracts

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

Introduction: Maturity Onset Diabetes of the Young (MODY) is clinically and genetically heterogeneous type of Monogenic Diabetes (MD) and to date 14 genes have been associated with different MODY subtypes. It is a rare disease characterized by early onset hyperglycemia, autosomal dominant inheritance, and defect in β cell insulin secretion, often misclassified as T1DM or T2DM.Materials and Methods: Genetic analysis ...

Introduction: Thyroid abnormalities such as subclinical or overt hypothyroidism are common in children with Down syndrome (DS) with ranges from 4% to 19.5%, whereas Graves´ disease (GD) is extremely rare (ranges 0.6%-0.9 %).Aims: To evaluate clinical features, course, and treatment of GD in children with DS.Patients and Methods: Among 161 children with GD, diagnosed between 1...

Background: Cardiovascular disease (CVD) and premature death are major consequences for individuals with type 1 diabetes (T1DM). While diabetes mellitus is an independent risk factor for the development of CVD, excess risk is highly dependent on the presence or absence of additional CV risk factors such as obesity, dyslipidemia, arterial hypertension and smoking. The combination, or clustering of several risk factors exponentially increases CVD risk. Targeting...

Background and Purpose: Previous studies have shown that autoimmunity in patients with type 1 diabetes mellitus (T1DM) begins long before the onset of clinical manifestations. Viruses, such as Coxsackie virus, play an important role in the complex and multifactorial etiology of T1DM. Human hair grows by 1 cm per month. A variety of endogenous molecules such as proteins, metabolites and hormones are incorporated during hair growth, so that a hair sample can pro...

Background/aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycemia. CHI is the most common cause of severe and persistent hypoglycemia in infancy and childhood that is associated with an increased risk of seizures, developmental delay and permanent brain damage, with lifelong neurodisability if treatment is delayed. The incidence of CHI is estimated to be approximate...

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...