hrp0092p1-79 | GH and IGFs | ESPE2019

The experience of Pain in Children with Growth Hormone Deficiency and Psychosocial Correlates: Preliminary Data from a Longitudinal Prospective Study

Bettini Alessandra , Teodori Caterina , Maffei Francesca , Ciofi Daniele , Stagi Stefano

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

hrp0092p3-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

About a Case of Neonatal Hypocalcemia

Belli Gilda , Cecconi Antonella , Romano Silvia , Ciofi Daniele , Stagi Stefano

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

hrp0092p1-107 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Secular Trend of Age at Menarche and Stature in Tuscan Girls: A Retrospective Study in The Birth Cohort 1995-2003

Ferrari Vittorio , De Masi Salvatore , Ricci Franco , Ciofi Daniele , Stagi Stefano

Introduction: Developed countries have shown, among the 20th century, a time trend towards a younger age at menarche. Tanner described an anticipation of 3 months every decade. In the last two decades of twenty century we have observed an apparent stabilization of menarche age in most of Western countries.Objective: analyze average age of menarche in Tuscany girls and compare our results with those in literatu...

hrp0092mte5 | Managing Endocrinopathies in McCune-Albright Syndrome | ESPE2019

Managing Endocrinopathies in McCune-Albright Syndrome

Tessaris Daniele

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...

hrp0092p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Long-term Teriparatide (rhPTH) Treatment in Children with Syndromic Hypoparathyroidism

Buganza Raffaele , Tuli Gerdi , Matarazzo Patrizia , Tessaris Daniele , De Sanctis Luisa

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...

hrp0092p1-400 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Plasma Copeptin Distribution in the Pediatric Age: A Useful Diagnostic Tool for AVP-Related Disorders

Tuli Gerdi , Tessaris Daniele , Buganza Raffaele , Matarazzo Patrizia , De Sanctis Luisa

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...

hrp0092p3-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

ENPP1 Hypophosphatemic Rickets in a 3.6 Years Old Italian Child

Tessaris Daniele , Abrigo Enrica , Tuli Gerdi , Matarazzo Patrizia , de Sanctis Luisa

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...

hrp0086rfc2.6 | Bone & Mineral Metabolism | ESPE2016

Combining COLD and MAMA-PCR Real Time Taqman Tecniques to Detect and Quantify the R201 GNAS Mutation Causing McCune-Albright Syndrome

de Sanctis Luisa , Bergallo Massimiliano , Galliano Ilaria , Montanari Paola , Tessaris Daniele , Matarazzo Patrizia

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=...

hrp0082p1-d3-18 | Adrenals &amp; HP Axis (1) | ESPE2014

Zenhale Inhaled Corticosteroid Therapy: Useful Second Line Therapy for Asthma in Children but be Wary of Adrenal Suppression

Perry Rebecca , Schwarz Wendy , Stosky Karen , Dawrant Jonathan , Pacaud Daniele , Noseworthy Mary , Anselmo Mark

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...

hrp0084p1-98 | Growth | ESPE2015

GH Excess in McCune–Albright Syndrome

Tessaris Daniele , Boyce Alison M , Matarazzo Patrizia , Lala Roberto , Collins Michael T

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...