ESPE Abstracts

Background: The hypothalamic–pituitary–adrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....

Background: After 50 years of hGH use for GH deficient (GHD) children the definition of the adequate hGH substitution dose and response remain uncertain.Objective and hypotheses: We hypothesized that subjects with GHD caused by congenital pituitary defects constitute an ideal model for defining substitution dose of hGH. Consequently, an appropriate study group was formed and pertinent long-term data were retrospectively analyzed.Me...

Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.Method: We report two patients with CPP caused by HH, one with normal fertility.Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hai...

Introduction: Familial hypercholesterolaemia(FH) is a genetic disorder affecting approximately 1 in 250 people, resulting in high levels of low-density lipoprotein Cholesterol(LDL-C), increasing the likelihood of developing cardiovascular disease(CVD) at a younger age. Lipoprotein (a)(Lp(a)) is another risk factor for atherosclerosis, elevated in 20-25% of people and 90% genetically determined, only slightly reduced by diet, exercise and medication.<p clas...

Background: In type 1 diabetes (T1D), the pancreatic βcells are selectively destroyed by the immune system resulting in absolute insulin deficiency. It has been long established that approximately half of the genetic risk for T1D is conferred by genetic loci associated with β-cell function, apoptosis, and regeneration.Aim: We report the case of a 6- year-old boy with new onset type T1D, and identified genetic l...

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Background: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by early onset, autosomal dominant inheritance and a defect in β cell insulin secretion. To date 14 different MODY subtypes have been reported each one with a distinct genetic aetiology. However four are the most common subtypes, namely MODY 1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY...

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background: In vitro fertilisation (IVF) has been widely used during the last decades. Increased susceptibility to birth defects and a higher cardiometabolic risk in children born after IVF than naturally conceived (NC) children have been reported. Also, a higher incidence of hyperthyrotropinemia has been noted in children born after IVF with respect to NC children and has been attributed to an epigenetic modification of the TSH set-point.Object...