ESPE Abstracts

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular.We undertook this audit to compare the efficacy and acceptability of...

Background: Turner syndrome (TS) is caused by a total or partial loss of one X chromosome. Typical features include short stature and primary amenorrhoea. In addition, decreasing trabecular bone mineral density (BMD) and increasing cortical BMD during puberty has been reported at the radius. As chromosomal aberration remains a probable cause of bone changes in TS, we aimed to elucidate whether the karyotype differs among the tissues originating from the three ...

Background: The risk of cardiovascular diseases is increased in girls with TS. The influence by combined GH and estrogen treatment on a condition of cardiovascular system is actively discussed.Objective and hypotheses: We performed this study to assess th effects of combined GH and estrogen treatment on lipid metabolism and systolic function of the left ventricle (LV) in girls with Turner syndrome without clinically relevant cardiac abnormalities.<p ...

Background: Women with Turner syndrome (TS) are known to be at risk of osteoporosis and fracture. While childhood GH treatment is common in TS, the impact of this therapy on bone health has been poorly understood.Objective: The purpose of this study was to determine the effect of childhood GH-treatment on adult bone quality in TS women using dual X-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT).<p c...

Background: Turner syndrome (TS) patients are at increased obesity risk. Additionally body composition in TS is distinctly altered. The percentage of body fat mass (BFM) is higher. Also adipokine dysregulation is observed. TS is associated with aortic dilatation, which is seen not only in patients with congenital aortic defects but also in patients without underlying pathology. Considering different co-morbidities common in TS, it’s extremely important to evaluate wide sp...

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...