ESPE Abstracts

Background: At present, literature regarding postnatal growth in small for gestational age (SGA) subjects and its’ correlation with growth factor levels is still controversial. A relation between IGF1 and IGFBP3 levels at birth and weight and length catch up growth has been demonstrated. In the first months of life a rapid weight catch-up growth has also been associated to an increase of leptin, basal insulin and insulin resistance.Objective and hyp...

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...

Background: Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is scarce, and needs to be described. Aim of this study is to assess phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a restricted area of t...

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...