ESPE Abstracts

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

Introduction: Well-known long-term complications of alloHSCT in childhood include endocrine system damage and secondary malignancies. In addition, adults surviving childhood alloHSCT are at risk of cardiovascular (CV) and metabolic disturbances. Long-term data of physical fitness in correlation with metabolic status are scarce in this particular group.Objective/Patients and Methods: Cross-sectional investigation of exerc...

Background: In gender dysphoric (GD) adolescents with advanced pubertal development, psychological relief can be attained with progestins, which are much cheaper and easier to administer than GnRHa. Moreover, use of GnRHa has been shown to interfere with pubertal bone mass accrual. To date, few data exist on the effects of progestins on body composition (BC) and bone parameters in this population.Objective and hypotheses: To explore the effects of pro- a...

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...