ESPE Abstracts

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

Background: Childhood obesity is a serious health problem, related to an increased risk of adult morbidity and mortality. Evidence indicates that central adiposity increases this risk to a higher degree compared to the general obesity indices.Objective and hypotheses: To evaluate the distribution of anthropometric obesity indices among preschool children aged 3.5–5.5 years, from six European countries, and to examine their associations with certain ...

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

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...

Short stature and hypogonadism are frequent symptoms in Turner syndrome (TS). In most cases, puberty must be induced but pubertal induction modalities are not consensual. Moreover, pubertal induction impact on final height and pubertal growth spurt has not been studied in depth. Our aim was to study factors influencing final height during pubertal induction in TS. Retrospective cohort of 45 TS girls followed in a single center: Bicetre hospital. We recorded auxological paramet...