ESPE Abstracts

McCune Albright Syndrome (MAS, OMIM # 174800) is a rare congenital sporadic disorder with an estimated prevalence ranging from 1 in 1,00,000 to 1 in 100,000. MAS is caused by a post-zygotic somatic activating mutation of the GNAS1 gene resulting in an increased GSα protein signaling leading to hyperfunction of glycoprotein hormone receptors, autonomous cell proliferation, and hormonal hypersecretion. The mosaic constitutive activation of this signal transducer is clinical...

Background: Preterm newborns (PN) are at risk of developing congenital hypothyroidism (CH) with a high reported incidence (1:300 vs 1:2000 for at term newborns). The study's objective was to determine the TSH percentiles at neonatal screening (NS) in PN and to analyze the incidence of permanent and transient CH in this population.Materials and Methods: PN born in the Piedmont Region of Italy in the period 2019-2021 ...

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

Background: Hypoparathyroidism is characterized by absence or inadequately low circulating concentrations of parathyroid hormone, resulting in hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. The use of activated vitamin D analogues and calcium supplements are recommended as the primary therapy. To avoid vitamin D and calcium side effects, subcutaneous recombinant human parathormone [rhPTH (1-34)] has been proposed f...

Introduction: Copeptin is a stable AVP surrogate, secreted in equimolar relationship, who has been proposed for the diagnosis of AVP-related hypo and hypernatremic disorders, i.e. the syndrome of inappropriate ADH secretions (SIADH), the cerebral/renal salt wasting syndrome (C/RSW) and diabetes insipidus (DI). Few data exist about the normal ranges for plasma copeptin levels in the pediatric age, reported between 2.4-8.6 pmol/L. The aim of this study is to rep...

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...

Background: McCune-Albright syndrome (MAS; OMIM#174800) is a rare disorder hallmarked by the triad fibrous osseous dysplasia, cafè-au-lait skin spots and endocrine hyperfunctions, usually peripheral precocious puberty. It is caused by post-zygotic activating mutations at R201 codon of the GNAS gene, which lead to a somatic mosaic state; the clinical manifestations of MAS are highly heterogeneous due to variability of mutation abundance among affected tissues.<p class=...

Background: McCune–Albright Syndrome is a combination of polyostotic fibrous dysplasia (BFD), café’-au-lait skin pigmentation and hyperfunctioning endocrinopathies. It results from postzygotic mutations in a-subunit of the Gsalfa protein and the consequent phenotype is a mosaic with high degree of clinical variability.Objective and hypotheses: The aim of the study is determine prevalence and characteristics of GH hypersecretion (GHH) in MA...

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...

Introduction: Graves-Basedow disease (GD) is the most common cause of thyrotoxicosis in pediatric age. Multi-factorial pathogenesis stand on the basis of the autoimmune disorder activation, leading to lymphocyte imbalance that include increased CD4+ and CD8+ subtypes, increased CD4+/CD8+ ratio and B cells dysregulation. The aim of this study is to determine the potential prognostic value of lymphocyte population parameters in pediatric GD.<p class="abstext...