ESPE Abstracts

Background: There is a need to increase digital health literacy in paediatric endocrinology due to the rapid emergence of digital technologies. Massive open online courses (MOOC) provide an opportunity to rapidly increase digital health capabilities at scale, as previously demonstrated in diabetes.1 To our knowledge, there are no comparable examples in the field of growth hormone deficiency.Aim: This study evaluates the ...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over multiple years. Novel technologies facilitate this by automating the injection process – thereby adding comfort and reducing anxiety. An always-connected device, enabled by mobile technologies, also facilitates the collection of injection data such that adherence information is available to healthcare professionals (HCPs) in real-time. In developing new solutions, it ...

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...

Background: Single nucleotide polymorphisms (SNPs) associated with the response to GH therapy have previously been identified in growth hormone deficient (GHD) children in the PREDICT long-term follow-up (LTFU) study (NCT00699855).Objective and hypotheses: To assess the effect of GHD severity on the predictive value of genetic markers of growth response.Method: We used pre-pubertal GHD children (peak GH <10 μg/l) from the ...

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...

Background: GH deficiency (GHD) is classically defined on the basis of a cut-off applied to the peak GH level during stimulation tests; a process with recognised limitations. Identifying the functional role of genes whose expression is associated with pGH may help with our understanding and classification of GHD.Objective and hypotheses: Identify patterns of gene expression (GE) related to pGH and to describe the function, and regulation of these genes.<...