ESPE Abstracts

Background: Cystic fibrosis (CF) is the most common genetic sever disease in Caucasian populations. It is crucial to identify patients with CF who are at increased risk of acquiring CF-related diabetes (CFRD).Objective: To identify potential demographic, clinical, and laboratory predictors of CFRD in patients with CF.Method: The study group included patients more than 10 years of age with CF and pancreatic insufficiency who attende...

Background: Epidemiologic studies have shown strong associations between high carotenoids levels and reduced risk of developing various forms of cancer, cardiovascular system diseases, etc.Objective and hypotheses: Carotenoids are hydrophobic substances and are contained in blood in lipoprotein particles. Their conformation depends on their molecular environment. By evaluating the conformation of carotenoids we can obtain various information about the li...

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: The association of GH deficiency (GHD) with central precocious puberty (CPP) has been reported in individuals with central nervous system (CNS) abnormalities, congenital or acquired. Co-existence of GHD and CPP has been rarely reported, always as an isolated, sporadic disorder.Objective and hypotheses: To present the familial occurrence of combined GHD and CPP.Method: GH was measured post L DOPA, glucagon and GHRH and g...

Background: Hyperglycaemia combined with hypertriglyceridaemia and non-alcoholic fatty liver, not directly related to Type 1 diabetes mellitus (T1DM,) is a rather uncommon metabolic disorder in children, which often evades early and accurate diagnosis. Even though considerable progress has been made in identifying some of the genes involved, the molecular basis of conditions presenting with hypertriglyceridaemia, deranged liver function and insulin resistance ...

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

Aim: To assess the efficacy of faster aspart (FIAsp) in paediatric population with type 1 diabetes mellitus (T1DM) and insulin pumps in real-world settings.Methods: We conducted a prospective analysis of 16 children and adolescents with T1DM on insulin pump that switched from Aspart to FIAsp from September 2019 to June 2020. We performed within groups and between groups analyses in three time points: 3 months before FIAs...

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...