ESPE Abstracts

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

Introduction: Growth depends on growth hormone (GH) secretion and on individual sensitivity to its action. The effects of birth parameters on growth and metabolic status are well documented in small-for-gestational-age children, but in children with GH deficiency those associations are not clear. Taking into account that GH-deficient children are not a homogenic group of patients, the importance of an individual approach to GH doses and the assessment of the e...

Introduction: It is well known that low birth weight in children (born small for gestational age, SGA) predisposes them to the occurrence of obesity, insulin resistance (IR) and lipid disorders, observed even through the whole first decade of life. Thus, early diagnostics and prevention are very important. The HOMA index is used to assess insulin resistance (IRIHOMA). However, in some cases, high, prolonged postprandial insulin secretion is observed...

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: The morphological and biochemical phenotype of Paired Box Domain Gene PAX8 mutation in patients with congenital hypothyroidism (CH) is variable. The contribution of mutations in PAX8 gene in children with CH and dysgenetic or orthotopic thyroid glands still remains a subject of interest of researchers.Objective and hypotheses: This study presents mutational analysis of the PAX8 gene in patients with primary CH.Method: 5...

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: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...