ESPE Abstracts

Pediatric non-alcoholic fatty liver disease (NAFLD) has increased in parallel with childhood obesity. Dietary habits, particularly products rich in sugars, may influence both hepatic fat content and insulin resistance. Hence, the aim of the current study was to examine the associations of the consumption of dietary foods (cereals, fruits and vegetables, meat and meat products, dairy products, fish and shellfish, total and added sugars) and composition (macronutrients and fiber...

Background: ‘D’ was a 7 year old Caucasian female who presented with a history of adult-type body odour starting at age 3 years. At age 6y 9m her bone age was 7y 10m. She had had a sharp increase in her weight in the past 2 years and her PCP noticed pubic hair growth. Her very anxious single mother was convinced she had a serious illness that needed immediate intervention.Case presentation: At presentation, D had Tanner 2 pubic hair and Tanner ...

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

Background: Thyroid nodules are rare in children compared to adults. Although most thyroid nodules are benign, the risk of malignancy is greater in pediatric patients.Case: We described a 10-year-old boy who presented with a right sided thyroid nodule that was 12×8 mm. He had not cervical lymphadenopathy. His fine needle aspiration biopsy cytology was benign. It was subsequently diagnosed as a Hurthle cell adenoma after thyroidectomy. In histopathol...

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...

A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-4). Human POR is a diflavin reductase that transfers electrons from NADPH to small molecules, non-P450 redox partners and cytochrome P450 proteins in the endoplasmic reticulum. Cytochrome P450 proteins perform a very wide range of reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic ...

Introduction: Cystinosis is an inherited (autosomal recessive) lysosomal storage disorder characterized by accumulation of cystine crystals in kidney, liver, eyes and brain. Patients can present to pediatric endocrinology clinics with growth retardation and vitamin D resistant rickets particularly in nephropathic infantile form. Here, we aimed to present genetic and clinical spectrum of ten patients who have been followed with the diagnosis of cystinosis, a rare cause of hypop...