hrp0097p1-99 | GH and IGFs | ESPE2023

Clinicians’ perceptions on ease of use and usefulness of Aluetta® Smartdot™ and comprehensive digital health ecosystem in Italy to support patients receiving r-hGH treatment

Felicia Faienza Maria , Vergani Edoardo , Di Mase Raffaella , Frasca Francesco , Giavoli Claudia , Klain Antonella , Laura Iezzi Maria , Aversa Antonio , Koledova Ekaterina , Rivera Romero Octavio

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

hrp0097p2-19 | Growth and Syndromes | ESPE2023

Gonadotropin and Estradiol levels in Turner Syndrome: does an old dog teach new tricks?

Casalini Emilio , Fava Daniela , Alessia Angelelli , Patti Giuseppa , Napoli Flavia , Elsa Maria Allegri Anna , Gastaldi Roberto , Tedesco Caterina , Passarella Tommaso , Pistorio Angela , Maghnie Mohamad , Di Iorgi Natascia

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

hrp0095p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Measurements of Growth Hormone in neonatal screening cards as a non-invasive and feasible tool: reference values in healthy term newborns.

Giacchetti Federico , Vidali Matteo , Sangiorgio Andrea , Rodari Giulia , Vantaggiato Chiara , Modugno Adriana Di , Morniroli Daniela , Colombo Lorenzo , Profka Eriselda , Dall'Antonia Alberta , Collini Valentina , Ceriotti Ferruccio , Mosca Fabio , Arosio Maura , Lorella Giannì Maria , Giavoli Claudia

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

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...

hrp0092t3 | Top 20 Poster | ESPE2019

Hypothalamus and Pituitary Gland Antibodies in Childhood-Onset Brain Tumors and Pituitary Dysfunction

Patti Giuseppa , Calandra Erika , De Bellis Annamaria , Gallizia Annalisa , Napoli Flavia , Crocco Marco , Bellastella Giuseppe , Maiorino Maria Ida , Luisa Garrè Maria , Parodi Stefano , Maghnie Mohamad , Di Iorgi Natascia

Background: Antipituitary (APA) and antihypothalamus antibodies (AHA) have not been investigated in children and adolescents with brain tumors.Patients and Methods: Sixty-three patients with craniopharyngioma, glioma and germinoma treated with surgery and/or chemotherapy and/or radiotherapy were evaluated at a median age of 13 years. Forty-one had MPHD, 6 had a single defect being GH the most common (65.1%), followed...

hrp0092p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Increased Prevalence of Overweight and Obesity and its Clinical Predictors in Children Affected by X-Linked Hypophosphatemia

Zhukouskaya Volha , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Séverine , Prié Dominique , Audrain Christelle , Barosi Anna , Kyheng Christèle , Lambert Anne-Sophie , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...

hrp0092p1-251 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Central Diabetes Insipidus in Children: Role of GH Antibodies

Napoli Flavia , Pani Fabiana , Gianti Francesca , Di Iorgi Natascia , Morana Giovanni , Allegri Anna Elsa Maria , Al_Thiabat Hanan Farid Mufleh , Gallizia Annalisa , Fava Daniela , Longo Chiara , Olcese Camilla , Vinci Francesco , Pistorio Angela , Caturegli Patrizio , Maghnie Mohamad

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...

hrp0089rfc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Assessment of Pituitary Stalk Anatomy by T2 DRIVE without Gadolinium in Pituitary Diseases

Napoli Flavia , Godano Elisabetta , Morana Giovanni , Di Iorgi Natascia , Pistorio Angela , Allegri Anna Elsa Maria , Gastaldi Roberto , Calcagno Annalisa , Patti Giuseppa , Gallizia Annalisa , Notarnicola Sara , Giaccardi Marta , Noli Serena , Severino Mariasavina , Tortora Domenico , Rossi Andrea , Maghnie Mohamad

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

hrp0082fc11.3 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations*

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...