hrp0095fc7.3 | Growth and Syndromes | ESPE2022

Italian long-term data on efficacy and safety of rhGH therapy in children with SHOX deficiency: the final report of a national survey performed into ISPED Growth Study Group.

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Elisabeth Maria , Parpagnoli Maria , Salerno Mariacarolina , Secco Andrea , Andrea Trettene Adolfo , Wasniewska Malgorzata , Pitea Marco , Faienza Mariafelicia , Delvecchio Maurizio , Corciulo Nicola , Tornese Gianluca , Filomena Madeo Simona , Iughetti Lorenzo

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

hrp0082p3-d1-904 | Pituitary | ESPE2014

Long-Term Endocrinological Follow-Up in Diencephalic Syndrome

Parpagnoli Maria , Seminara Salvatore , Anzilotti Giulia

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...

hrp0082p3-d1-934 | Puberty and Neuroendocrinology | ESPE2014

An Unusual Combination of Premature Ovarian Failure and a History of GNRH Treatment for Idiopathic Precocious Puberty

Parpagnoli Maria , Seminara Salvatore , Anzilotti Giulia

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...

hrp0092p1-106 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Management and Treatment Outcome of Craniopharyngiomas in Young Children Before 4 Years of Age in Italy: Multicentre Collection of 16 Cases

Baronio Federico , Zucchelli Mino , Aversa Tommaso , Driul Daniela , Guzzetti Chiara , Iughetti Lorenzo , Matarazzo Patrizia , Parpagnoli Maria , Pedicelli Stefania , Pozzobon Gabriella , Salerno Mariacarolina , Zucchini Stefano

Introduction: Craniopharyngiomas (CP) are rare pediatric intracranial tumors (1.2-4%) with a peak of incidence between 5-14 years . We retrospectively reviewed data of 16 cases (M/F 4/12) diagnosed before 4 years of age (median follow up 7.2 years) from a cohort of 117 patients (pts) (M/F 56/41) diagnosed after 01/01/2000, followed-up in 14 Italian centres of pediatric endocrinology belonging to the Italian Society for Pediatric Endocrinology and Diabetolo...

hrp0086p1-p107 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Chiarelli Francesco , Manoni Cristina , Parpagnoli Maria , Verrotti Alberto , Lapi Elisabetta , Giglio Sabrina , Dosa Laura , de Martino Maurizio

Background: Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism in childhood and adolescence are very rare.Objective and hypotheses: The purpose of our study was to evaluate bone status and metabolism in a cohort of KS children and adolescents.Method: This cross-sectional study involves 40 (mean age 13.7±3.8 years) KS children and adolescents and 80 age-mat...

hrp0086p1-p130 | Bone & Mineral Metabolism P1 | ESPE2016

Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Parpagnoli Maria , Paci Silvia , Masoni Fabrizio , Chiarelli Francesco , Verrotti Alberto , Guarducci Silvia , Giglio Sabrina , Romano Silvia , de Martino Maurizio

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

hrp0094p1-164 | Growth B | ESPE2021

Long-term efficacy and safety of rhGH in children with SHOX deficiency: preliminary data of a national Italian survey (on behalf of ISPED Study Group on Growth Factors and Puberty).

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Street Maria Elisabeth , Parpagnoli Maria , Trettene Adolfo Andrea , Wasniewska Malgorzata , Madeo Simona Filomena , Iughetti Lorenzo ,

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

hrp0092rfc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Prevalence and Predicting Factors of Endocrine Dysfunction in Children with NF1 and Optic Gliomas

Santoro Claudia , Perrotta Silverio , Scilipoti Martina , Cirillo Mario , Quaglietta Lucia , Cinalli Giuseppe , Cioffi Daniela , Di Iorgi Natascia , Gallizia Annalisa , Maghnie Mohamad , Parpagnoli Maria , Messa Federica , Vannelli Silvia , De Sanctis Luisa , Marzuillo Pierluigi , del giudice Emanuele Miraglia , Grandone Anna

Introduction:Up to 20% of children with neurofibromatosis type 1 (NF1) develops low-grade optic pathway gliomas(OPGs) that can result in neuroendocrinopathy.The aim of the study was to identify prognostic factors for developing neuroendocrinopathies in patients with NF1 and OPGs before any treatment.Methods: Records of 117 children with NF1 and OPGs followed at 4 Italian centers between 1997-20...

hrp0092p2-171 | GH and IGFs | ESPE2019

Final Height in GH-deficient Paediatric Patients: A Nationwide Experience

Zucchini Stefano , Lonero Antonella , Bellone Simonetta , Bozzola Mauro , Cassio Alessandra , Felicia Faienza Maria , Giacomozzi Claudio , Grandone Anna , Guzzetti Chiara , Iughetti Lorenzo , Parpagnoli Maria , Salerno Mariacarolina , Elizabeth Street Maria , Tornese Gianluca , Wasniewska Malgorzata , Delvecchio Maurizio

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

hrp0092p2-232 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: Clinical Picture at Diagnosis in an Italian Multicentre Study

Menardi Rachele , Driul Daniela , Franco Francesca , Baronio Federico , Pozzobon Gabriella , Gallo Dario , Grossi Armando , Fintini Danilo , Parpagnoli Maria , Nardini Beatrice , Matarazzo Patrizia , Ibba Anastasia , Bruzzi Patrizia , Wasniewska Malgorzata , Salerno Mariacarolina , Fantini Jacopo , Zucchini Stefano

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..<p class="abstex...