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...

hrp0092p2-208 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Polyendocrine Sydrome Type I: A Neuroendocrine Multi-Systemic Disease with a Variable Expressivity

Carpino Andrea , Pinon Michele , Montin Davide , Tuli Gerdi , de Sanctis Luisa , Matarazzo Patrizia

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...

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=...

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...

hrp0084p2-210 | Bone | ESPE2015

Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

Giachero Federica , Elli Francesca M , Baricco Marta , Matarazzo Patrizia , Mantovani Giovanna , de Sanctis Luisa

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...

hrp0084p2-425 | GH &amp; IGF | ESPE2015

Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Feyles Francesca , Einaudi Silvia , Matarazzo Patrizia

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...

hrp0084p3-951 | GH &amp; IGF | ESPE2015

Predictors of Response to rhGH Treatment in 125 Children with Short Stature of Various Aetiologies

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Verna Francesca , Borraccino Alberto , Matarazzo Patrizia

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...

hrp0084p3-1105 | Pituitary | ESPE2015

Off-label Use of Vaptans in Children with Severe Symptomatic Hyponatremia due to SIADH

Tuli Gerdi , Tessaris Daniele , Di Taranto Serena , Giorgis Alberto , Einaudi Silvia , Matarazzo Patrizia

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/...