ESPE Abstracts

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

Aims: In children with new-onset type 1 diabetes mellitus (T1D), insulin dose regimens vary substantially. According to current ISPAD recommendations, the initial total daily dose (TDD) should range from 0.7 to 1.0 IU/kg BW/day. Adjusting TDD to achieve normal blood glucose concentration can take several days. The primary objectives of our INSENODIAB (INsulin SEnsitivity in New Onset type 1 DIABetes) study were to assess how patient characteristics influence i...

A 17-year-old girl comes to our attention for a second opinion due to reduced bone mineralization. She has a family history of osteogenesis imperfecta: her mother and younger sister have a COL1A1 mutation. The girl never had any fractures, but considering the familiarity it was carried out a DEXA, showing a Z-score of -1.9 SDS at the femoral level and -2 SDS at the lumbar level; no fractures visible in the spine X-ray. The genetic analysis of COL1A1 was carried out, which came...

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by insulin-producing pancreatic β-cells loss. Apo1/Fas, a glycosylated surface protein, is implicated in maintaining homeostasis of the immune system. Cytokeratin-18 (cCK-18) is a predictive marker of liver disorders in T2DM. Intercellular adhesion molecule-1 (ICAM-1) is considered a candidate gene for susceptibility to diabetes mellitus. Aim: To investigate the possible role of Apo1/Fas, cCK-...

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...