ESPE Abstracts

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Gorham-Stout disease(GSD), also known as vanishing bone disease is an extremely rare skeletal disorder characterized by idiopathic intraosseous proliferation of lymphatic vascular structures resulting in progressive resorption of bone. Herein, we report a case of a 4-year-old girl with GSD treated with the combination treatment with bisphosphonate, sirolimus, and atenolol. A 4-year-old girl presented with prolonged back pain for 2 weeks. The thoracolumbar spine radiography rev...

Combined pituitary function test is a dynamic function test used to evaluate the anterior pituitary gland in patients suspected with hypopituitarism. The test comprises insulin challenge test where intravenous insulin injection in order to induce symptomatic hypoglycemia (serum blood glucose <40mg/dL). Insufficient increase in growth hormone and cortisol after the stimulation confirms the diagnosis of growth hormone deficiency and/or adrenal function insufficiency. However,...

Background: Despite the importance of hypercholesterolemia in children, it is overlooked, and there are currently few metabolomics-based approaches available to understand its molecular mechanisms.Methods: Children from a birth cohort had their cholesterol levels measured with the aim of identifying the metabolites for the molecular biological pathways of childhood hypercholesterolemia. One hundred and twenty-five childr...

Background: Several lines of evidence suggest that the adult pituitary contains a population of tissue-specific stem cells capable of differentiating into hormone-producing cells. Previously, we have shown that Sox2+ve cells are able to self-renew and differentiate in vitro, suggesting that this population of undifferentiated cells may contain stem cells in vivo. When targeted with oncogenic mutations adult stem cells can become cancer stem cells, able to self-renew and give r...

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

Background: Neonatal diabetes is a rare pathology occurring in around one in every 200 000–400 000 live births. The most common cause of permanent neonatal diabetes (PNDM) is heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic β cell KATP channel.Objective and hypotheses: To determine the dynamic of carbohydrate metabolism in family transferred from insulin to sulphonylureas (...

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...