ESPE Abstracts

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: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

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: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

Background: Response to rhGH treatment is variable among GH deficiency (GHD), GH insensitivity and several intermediate conditions.Aims and objectives: To compare baseline parameters and response to rhGH treatment in eight diagnostic categories of patients with short stature.Methods: We selected 125 prepubertal children presenting at least 2 years of rhGH treatment (mean 5.29 years, range 2–15.6 years), hormonal and clinic par...

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

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/...