ESPE Abstracts

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.Methods: Presenting ...

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...