ESPE Abstracts

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

Objective: International Societies for diabetes care are aiming to facilitate and improve the uptake of diabetes technologies. This survey investigated healthcare professional (HCP) evaluation of the role of technology in diabetes care within their centres.Methods: Between April to November 2017, 215 HCPs from six continents (132 Europe, 36 Asia, 23 North and 7 South America, 9 Africa and 8 Australasia) replied to an online survey and provided data for a...

Background: Nutrition plays a pivotal role in long-term survival in cystic fibrosis (CF). Early insulin treatment for glucose intolerance promotes anabolism and stabilises lung function. However there is a variation in cystic fibrosis related diabetes (CFRD) screening across centres (recommended age for start of CFRD screening varies between 10 and 12 years as per CF trust, CFF & ISPAD guidelines).Aims: To assess if early screening of glycaemic statu...

Background: Adolescent polycystic ovary syndrome (PCOS) may be difficult to distinguish from pubertal changes and diagnosis remains a challenge.Objective and hypotheses: To investigate the value of different biochemical parameters for the diagnosis of PCOS and also to assess the prevalence of non-classical congenital adrenal hyperplasia (NCCAH) among adolescent girls referred for clinical symptoms suggesting PCOS.Method: Retrospect...

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...