ESPE Abstracts

Background: Non-alcoholic fatty liver disease (NAFLD) in obese children is a diagnostic challenge. Presently recommended markers of liver steatosis and risk of progression to fibrosis are: ultrasound imaging (US) and liver aminotransferases (ALT and AST). Owing to the poor sensitivity of these tests, there is a need to search for biomarkers which could indicate early stages of NAFLD. The enhanced liver fibrosis test (ELF) based on the combination of serum concentration of hyal...

Background: An abnormal blood pressure (BP) circadian rhythm, and in particular a non- dipping phenomenon is associated with increased cardiovascular and cerebrovascular health risks. In patients on steroid replacement therapy non physiological substitution may affect the BP profile.Objective and hypotheses: i) to evaluate the circadian BP profiles of patients with congenital adrenal hyperplasia (CAH) on steroid replacement therapy, ii) to compare BP pro...

Background: Liver tests abnormalities are common in adult patients with Turner Syndrome (TS). The data regarding liver tests in children and adolescents with TS remain lacking.Design and patients: A cross-sectional review of liver function of 100 girls with TS (age range 4–16, the mean BMI SDS 0.63 [−1,86 −6,78]); 56 receiving rhGH therapy (9 obese, 47 normal weight), and 44 receiving rhGH therapy and estrogen or estrogen/progesterone ho...

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...

Background: Arterial hypertension (AH) is one of the most common and the earliest complications of childhood obesity. It is diagnosed on the basis of at least three results of the standard setting measurements of systolic (SBP) and diastolic (DBP) blood pressure. Nevertheless, some data suggest, that this diagnostic standard may be not sufficient for obese children, because some BP abnormalities, unique for these patients, (decrease of night dip, elevated SBP/DBP load) cannot ...

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglice...

Background: Arterial hypertension (AH) in young patients with Type 1 Diabetes (T1D) occurs more often, and at younger age than in general population. A reduction of nighttime dip value is considered as an early marker of AH risk.The aim of this study: was to identify the association between AH, and abnormal nighttime dip and diabetes-related factors: duration time and glycemic controlMethod...

Background: Combine pituitary hormone deficiency (CPHD) may be caused by many factors. One – them is PROP1 gene mutation, that causes maldevelopment of GH, TSH, LH, FSH prolactin but not ACTH, producing cells (CPHD–PROP1).Objective and hypotheses: The details of possible differences between phenotypes of CPHD–PROP1 and CPHD of other reasons (CPHD–nonPROP1) are not clear to date. The aim of the study...

Background: It was reported recently that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi Syndrome (PWS), presented in up to 60% of them, could be a potential cause of sudden death. Moreover it has been suggested that CAI could be aggravated by rhGH recombinant human growth hormone (rhGH) treatment.Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the p...

Background: Achondroplasia is a genetic disorder that belongs to a large group of skeletal dysplasias that is caused by a missense mutation in the gene encoding FGFR-3 resulting in its constitutive upregulating. This interferes with the receptor's tyrosine kinase domain causing inhibition of cartilage tissue cells and the formation of abnormalities in the bone growth plate leading to defective skeletal development and a disproportionately short stature wi...