ESPE Abstracts

Background: Short stature, increased adiposity and insulin resistance are conditions frequently observed in patients with Turner syndrome (TS). Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Klotho play a very important role in the regulation of the human body metabolism and was not investigated in patients with TS so far.<p cl...

Objectives: To evaluate prognostic factors of the growth hormone (GH) treatment effectiveness in children with Turner syndrome (TS).Methods: Retrospective observational study was conducted for 62 patients with TS (32 girls (52%) with 45,X karyotype, 8 (13%) with mosaic variant 45,X/46,XX, and 22 patients (35%) with structural abnormalities of X chromosome). All patients were treated with GH at a dose of 0.33 ...

Background: Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. The 2016 Cincinnati clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention is piloted. PEERS has previously been used in face-to-face interventions with male adolescents with autism spectrum conditions. This pilot project will be the first to examine the feasibili...

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

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...

Turner syndrome (TS) is the most common genetic disease associated with the X-chromosome abnormality. Sex chromosome monosomy (45,X) occurs in 40–50% of the cases. 5% of patients with TS, in addition to cells lacking the genetic material of the X-chromosome, have a cell line with Y-chromosome, whether complete or not, which can be clinically manifested by virilization and mixed gonadal dysgenesis. Early identification of the Y-chromosome genetic material in patients with...

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

Background: Turner syndrome (TS) is a common aneuploidy diagnosed by peripheral-blood-cell (PBC) karyotyping. Karyotyping is costly, time-staking and subject to manual errors. Quantitative real-time PCR (qPCR) is a cheap molecular diagnostic test which can detect several samples of TS within hours.Objective: To assess the performance of qPCR in detecting TS and variants.Methods: Ge...

Introduction: Characteristics of the Turner syndrome (TS) include congenital gonadal dysgenesis resulting in disturbed sexual maturation. Only 20 % of patients with TS menstruate spontaneously. In most cases pharmacological puberty induction is required to maintain female secondary sex characteristics and menarche. Preferred age of start of estrogen replacement is between 11 and 12 years with gradual increase of dose during 2–3 years.<p class="abstex...

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...