ESPE Abstracts

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the...

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.Methods: Descriptive retrospective study including all the patients genetic...

Objectives: To assess the long-term effect of growth hormone (GH) therapy in children with Turner Syndrome (TS)Patients and methods: We evaluated retrospectively the anthropometric data of 10 girls with TS short children (height SDS <-2) who were diagnosed and treated with GH (0.05 mg/kg/day) between January 2007 till 2018 in our tertiary care center. Before and during GH treatment, auxological and biochemical parameters including He...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...