ESPE Abstracts

Background: Data on metabolic effects of gonadotropin-releasing hormone agonist (GnRHa) therapy are still controversial.Objective and hypotheses: To longitudinally evaluate the effect of GnRHa therapy on BMI, glycaemic metabolism and lipid profile in children affected by idiopathic central precocious puberty (CPP).Method: This longitudinal retrospective study included data from 42 children (7.70±0.80 years, 2 males) affected b...

Background: Adult survivors of childhood Acute Lymphoblastic Leukemia (ALL) treated with protocols including cranial radiotherapy (CRT) demonstrate a persistent increased BMI and a reduced final height (FH).Objective and hypotheses: We investigated the effect of chemotherapy alone (CT) on BMI and FH in an international cohort of childhood ALL survivors.Method: English patients (61% female) treated on UKALL XI protocol without CRT a...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

Background: Placenta tissue hold great promise as a source of cells for regenerative medicine due to its plasticity and easy availability. Amniotic Mesenchymal Stem Cells (AMSC) represent a potentially unlimited source of functional pancreatic endocrine lineage cells, used to replenish the islet mass in diabetic patients.Objective and hypotheses: The aim of our study is to culture AMSC in serum-free condition preserving their phenotypic traits. These cul...

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: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

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/...