ESPE Abstracts

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...

Introduction: Turner Syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a phenotypic female. The genes involved in Turner phenotype are X-linked genes that escape inactivation. A major locus involved in the control of linear growth has been mapped within the Pseudo-Autosomal Region (PAR1) of the X chromosome.Aim: To study some endocrine hormones with considerable effect on the presentation and prognosis of TS and their...

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...

In Turner Syndrome (TS) the ovaries usually start to involute within 4 or 5 months of gestation. Consequently, the majority of patients have diminished ovarian estrogen production leading to the (Partial) absence of puberty. These girls need estrogen therapy to induce pubertal maturation. For many parents of girls with TS, talking about ovaries, puberty and, particularly, infertility is a stressful thing. However, timely age-appropriate disclosure about these subjects, startin...

Introduction: Short stature is the most common symptom of Turner Syndrome (TS). The height below the 3rd percentile is an indication for recombinant human growth hormone (rhGH) treatment. TS is also associated with gonadal failure and increased risk of fracture. Spinal trabecular bone score (TBS) is a novel bone imaging tool that can offer better bone evaluation in TS.Aim: To evaluate TBS in TS, its association with rhGH...

Introduction: Turner syndrome (TS) is a genetic condition which is reported to be associated with electrocardiogram (ECG) abnormalities, of which the rate-corrected QT interval (QTc) is the most common indicated deviation. Our objectives were to gain more insight in the prevalence of QTc-prolongation using both Bazett's and Hodge's correction formulas in patients with TS of all ages and to investigate whether QTc prolongation is more prevalent in patie...

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...

A 12-year 8-month-old girl visited our hospital due to short stature. Her height was 130.7 cm (−3.6SD), and her weight was 42 kg (−0.24 SD). She had cubitus valgus and breast budding (Tanner stage II) without a webbed neck, congenital heart anomaly, exophthalmos, or goiter. Laboratory results in serum were as follows: Ca 10.3 mg/dL, LH11.7 mIU/mL, FSH37.7 mIU/mL, estrogen 18.6 pg/mL, IGF-1 304 ng/mL, and bone age 12 years and 0 months. All other laboratory findings...