ESPE Abstracts

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

Introduction: Congenital hypopituitarism is a heterogeneous disorder with isolated hormone deficiency(IPHD) or combined(CPHD). Main risk factors for CPHD include H-P abnormalities such agenesis corpus callosum(ACC), anterior pituitary hypoplasia(APH), ectopic posterior pituitary(EPP), pituitary stalk interruption(PSI), septo-optic dysplasia(SOD), and holoprosencephaly(HPE).Patients and Methods: Prospective and longitudin...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

Background: There is a direct relation between C-reactive protein and leukocyte count as indicators of inflammation. The neutrophil lymphocyte ratio (NLR) is the balance between both cells and is considered a marker of low-grade inflammation and an indicator of high risk of cardiovascular events. An elevated NLR is related with type 2 diabetes (T2D), however, even when in type 1 diabetes (T1D) there is an underlying inflammatory process, an elevation of circulating neutrophils...

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH...

Background: Increased uric acid is an independent risk factor for cardiovascular disease in obese adults and adolescents. The relationship between uric acid and atherosclerotic risk early in life is unknown.Objective and hypotheses: We investigated whether uric acid relates to carotid intima–media thickness (cIMT), a marker of preclinical atherosclerosis, in a rather large sample of school-age children and investigated the interaction of obesity sta...