ESPE Abstracts

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...

Background: Familial Hypercholesterolemia (FH) is an autosomal dominant disorder causing increased levels of total and LDL cholesterol (LDL-C). When onset is in early childhood, it is associated with higher risk of coronary heart disease and hence the emphasis on early identification and strict management to improve the life expectancy. Of the two types of FH, the homozygous variant is the most severe form associated with extremely high levels of LDL.Aim...

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Introduction: The main problem of contemporary diabetology is to prevent chronic complications of carbohydrate metabolism disorders according to DM1 and obesity (pre-disposing for DM2). The task is to find simple tools that allow rapid identification of vascular lesions and early treatment intervention.Aim of the study: The aim of the study was to evaluate parameters of CBP in patients with DM1 and obesityMaterials and methods: The...

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...