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=...

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...

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/...

hrp0094p1-93 | Thyroid A | ESPE2021

"Lympocyte population in children and adolescents affected by Graves’ disease. Potential predictive tool of disease severity"

Tuli Gerdi , Munarin Jessica , Tessaris Daniele , Matarazzo Patrizia , De Sanctis Luisa ,

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...

hrp0094p2-400 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Peripheral Precocious Puberty in girls affected by McCune-Albright Syndrome: safety and efficacy retrospective study on letrozole treatment

Tessaris Daniele , Gazzin Andrea , Bonino Elisa , Tuli Gerdi , Matarazzo Patrizia , de Sanctis Luisa ,

Introduction: Precocious Peripheral Puberty (PPP) due to autonomous ovarian activation is the most frequent endocrinopathy in girls with McCune-Albright Syndrome (MAS). Main goals of treatment for PPP are to reduce signs of estrogen exposure, also improving final height, and mitigate secondary psychological influence of sexual hormones exposure. This retrospective study analyzes the long-term safety and efficacy of letrozole treatment in a cohort of girls with...

hrp0095rfc1.5 | Thyroid | ESPE2022

“Screening for congenital hypothyroidism in preterm newborns: Thyroid Stimulating Hormone (TSH) percentiles for weight and gestational age and congenital hypothyroidism features”

Gerdi Tuli , Jessica Munarin , Kristela Topalli , Daniele Tessaris , Patrizia Matarazzo , Luisa De Sanctis

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 ...