ESPE Abstracts

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...

Background: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...

Background: Mammalian puberty is initiated by the pulsatile release of gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Enhanced at puberty (Eap) 1 is a transcription factor within this regulatory network integrating exogenous and endogenous informations, e.g. weight. Recent studies indicate an epigenetic regulation of the pubertal process.Objective and hypotheses: This study investigates if overweight modifies epigenetic marks i...

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

Background: A large proportion of the increased mortality in Turner syndrome (TS) is related to cardiovascular complications. Increased arterial stiffness may be an important predictor related to cardiovascular complications. A novel method of evaluating arterial stiffness, relatively independent of changes in blood pressure (BP), is the cardio-ankle vascular index (CAVI).Objective and hypotheses: The aim of this study was to compare arterial stiffness u...

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

Background: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). However, longitudinal data on BMD development in childhood and adolescence and a reliable densitometric predictor of fractures in TS are still lacking.Objective and hypotheses: Our aim was to longitudinally assess BMD in paediatric TS patients and test whether trabecular BMD development over six years of observat...

Background: Bicuspid aortic valve and aortic dilation are common in Turner Syndrome (TS). Aortic dissection is a well recognised cause of cardiovascular death, with an estimated incidence of 1.4 per 100 patients with TS. The biophysical properties of the aorta, including pulse wave velocity (PWV), characteristic impedance (Zc), input impedance (Zi), elastic pressure-strain modulus (Ep), and beta index (β-index), have not been well studied in TS. PWV is considered the most...