ESPE Abstracts

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...

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

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...

Context: Turner syndrome (TS) predisposes to obesity and related disorders being a part of the metabolic syndrome. As TS population is at a higher risk of cardiovascular diseases research for laboratory markers of metabolic complications is ongoing. Based on our previous observation special significance is attributed to MMPs (matrix metalloproteinases), their inhibitors TIMPs and neurotrophic factors, such as BDNF (Brain-Derived Neurotrophic Factor) and GDNF (...

Context: Turner Syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation in patients with sufficient follicle numbers. The most recently studied are oocyte preservation and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.The aim of this study is to ...

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

Background: The effects of recombinant GH therapy on development of oxidative stress and insulin resistance in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The aim of this study is to examine the longitudinal relationships of oxidative stress markers with the development of insulin resistance during GH treatment in girls with TS.Method: Ten prepubertal girls (aged 12–14 years; median 13.0 years) with...

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Prior to the clinical and commercial introduction of noninvasive prenatal testing (NIPT) by sequencing of maternal plasma cell-free DNA in 2011, most fetuses with Turner syndrome were detected by sonographic findings related to lymphedema or incidentally. NIPT, however, has transformed prenatal genetic screening, and an estimated 4–6 million tests have been performed worldwide. In the maternal plasma sample there is both maternal and placental cell-free DNA. Following a s...

Background: The association between Turner syndrome and Type1/ Type 2 diabetes is well known. Growth hormone is also utilized in Turner syndrome to improve height outcomes, but association of Turner patients with growth hormone deficiency is rare. To my knowledge, there are no cases of concurring Turner syndrome, Type 1 diabetes, and growth hormone deficiency.Objectives: To describe a rare case where a child diagnosed wi...