Explanipedia

Il diabete insipido centrale (difetto di vasopressina) in età pediatrica Open

Giuseppa Patti, Rosa Fumo, Flavia Napoli, Mohamad Maghnie, Natascia Di Iorgi · 2025

Sommario Il diabete insipido centrale denominato anche deficit di vasopressina è una condizione clinica complessa che può essere causata da diverse patologie ipotalamiche-ipofisarie congenite e/o acquisite. Questo articolo costituisce una …

Correction: Experts’ consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan Open

Giampiero I. Baroncelli, M. Barale, Maria Luisa Brandi, Valentina Camozzi, S. Carrara , et al. · 2025

Experts’ consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan Open

Giampiero I. Baroncelli, M. Barale, Maria Luisa Brandi, Valentina Camozzi, Carrara Silvia , et al. · 2025

Individuals with XLH often experience unmet needs throughout life; a multidisciplinary approach involving different specialists, is recommended. The new treatment with burosumab can provide an effective and safety therapeutic option in red…

Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3‐Year Study Open

Chiara Panicucci, Sara Casalini, Alessia Angelelli, Noemi Brolatti, Marina Pedemonte , et al. · 2024

Introduction/Aims Duchenne muscular dystrophy (DMD) is complicated by bone fragility. This study aimed to elucidate changes in bone mineral density (BMD) and body composition over time and to explore associations with adiposity measures in…

Approach to the Child and Adolescent With Adrenal Insufficiency Open

Giuseppa Patti, A. Zucconi, Simona Matarese, Caterina Tedesco, Marta Panciroli , et al. · 2024

The management of adrenal insufficiency (AI) is challenging, and the overall goals of treatment are to prevent life-threatening adrenal crises, to optimize linear growth, to control androgen levels without overdosing in patients with conge…

Accuracy of Glucagon Testing Across Transition in Young Adults With Childhood-Onset GH Deficiency Open

Daniela Fava, Davide Guglielmi, Carlotta Pepino, Alessia Angelelli, Emilio Casalini , et al. · 2024

Context The 2019 American Association of Clinical Endocrinologists guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 and ≤1 µg/L in the diagnosis of permanent GH deficiency (GHD) during the transition phase. Objective The a…

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology Open

Giampiero I. Baroncelli, Pasquale Comberiati, Tommaso Aversa, Federico Baronio, Alessandra Cassio , et al. · 2024

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder…

Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort Open

Alessandra Cassio, Gloria Marescotti, Tommaso Aversa, Mariacarolina Salerno, Gianluca Tornese , et al. · 2024

Context There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000. Objective We aimed to evaluate the causes of CPP in boys diagnose…

THU172 Accuracy Of The Glucagon Testing In The Diagnosis Of Growth Hormone Deficiency During Transition Open

Natascia Di Iorgi, Davide Guglielmi, Napoli Flavia, Anna Maria Elsa Allegri, Daniela Fava , et al. · 2023

Disclosure: N. Di Iorgi: None. D. Guglielmi: None. N. Flavia: None. A. Allegri: None. D. Fava: None. E. Casalini: None. G. Patti: None. M. Maghnie: None. Objectives: To evaluate the accuracy of the Glucagon test (GST) compared with the Ins…

Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals Open

Daniela Fava, Fabio Morandi, Ignazia Prigione, Alessia Angelelli, Paola Bocca , et al. · 2023

Context Rapid-onset obesity with central hypoventilation, hypothalamic dysfunction, and autonomic dysregulation with neural crest tumors (ROHHAD-NET) syndrome pathophysiology remains elusive. Acquired neuroimmunological dysfunction has bee…

Abnormalities of pubertal development and gonadal function in Noonan syndrome Open

Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia , et al. · 2023

Background Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, ch…

Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency Open

Patrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, Natascia Di Iorgi, Maria Parpagnoli , et al. · 2023

Objective This Italian survey aims to evaluate real-life long-term efficacy and safety of recombinant human growth hormone (rhGH) therapy in children with short stature homeobox-containing gene deficiency disorders (SHOX-D) and to identify…

Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age Open

Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione , et al. · 2023

[This corrects the article DOI: 10.3389/fendo.2022.975511.].

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age Open

Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione , et al. · 2022

Context Data on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methods Retrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental d…

Sellar and parasellar lesions in the transition age: a retrospective Italian multi-centre study Open

Tiziana Feola, Rosa Pirchio, Giulia Puliani, Riccardo Pofi, Marco Crocco , et al. · 2022

Clinical, Endocrine and Neuroimaging Findings in Girls With Central Precocious Puberty Open

Daniela Fava, Andrea Calandrino, Maria Grazia Calevo, Anna Elsa Maria Allegri, Flavia Napoli , et al. · 2022

Context The etiology of central precocious puberty (CPP) includes a spectrum of conditions. Girls younger than age 6 years with CPP should undergo cranial magnetic resonance imaging (MRI), but it remains controversial whether all girls who…

Expert Opinion on the Management of Growth Hormone Deficiency in Brain Tumor Survivors: Results From an Italian Survey Open

Natascia Di Iorgi, Giovanni Morana, Marco Cappa, Ludovico D’Incerti, Maria Luisa Garrè , et al. · 2022

Background Growth hormone deficiency (GHD) is the first and most common endocrine complication in pediatric brain tumor survivors (BTS). GHD can occur due to the presence of the tumor itself, surgery, or cranial radiotherapy (CRT). Aims Th…

LGG-40. Growth hormone replacement in children on therapy with Vemurafenib for Low Grade Glioma Open

Antonio Verrico, Marco Crocco, Emilio Casalini, Antonia Ramaglia, Andrea Rossi , et al. · 2022

BRAF inhibitors (iBRAF) are a therapeutical option for pediatric Low-Grade-Gliomas (pLGG), but their chronic use may be needed to prevent tumor regrowth. Growth hormone (GH) replacement in children with GH deficiency (GHD) and on oncologic…

RONC-10. Radiation-induced hypothyroidism in pediatric brain tumour survivors: radiation dose-volume predictors of its onset Open

Camilla Satragno, Antonio Verrico, Flavio Giannelli, Sucheeta Campora, M. Turazzi , et al. · 2022

BACKGROUND: Central hypothyroidism is a well-known late effect of radiotherapy in children treated for brain tumours. AIM: To determine the risk of central hypothyroidism (CH) and the radiation dose-volume predictors of its onset. METHODS:…

LGG-35. Dyslipidemia in children treated with BRAF inhibitors for brain tumor, a new side effect? A single center retrospective study Open

Marco Crocco, Antonio Verrico, Claudia Milanaccio, Gianluca Piccolo, Gabriele Gaggero , et al. · 2022

The targeted therapies for brain tumors are innovative and promising oncological treatments and as a result their use has expanded widely. BRAF inhibitors (BRAFi) in recent years have played a central role in disease control of unresectabl…

Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? Open

Marco Crocco, Antonio Verrico, Claudia Milanaccio, Gianluca Piccolo, Patrizia De Marco , et al. · 2022

BRAF inhibitors, in recent years, have played a central role in the disease control of unresectable BRAF-mutated pediatric low-grade gliomas (LGGs). The aim of the study was to investigate the acute and long-term effects of vemurafenib on …

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report Open

Giovanni Del Borrello, Maurizio Miano, Concetta Micalizzi, Michela Lupia, Isabella Ceccherini , et al. · 2022

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress…

Sleep Disturbances in Pediatric Craniopharyngioma: A Systematic Review Open

Ramona Cordani, Marco Veneruso, Flavia Napoli, Natascia Di Iorgi, Claudia Milanaccio , et al. · 2022

Craniopharyngiomas are rare brain tumors of the sellar region and are the most common non-neuroepithelial intracerebral neoplasm in children. Despite a low-grade histologic classification, craniopharyngiomas can have a severe clinical cour…

Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experience Open

Laura Chioma, Carla Bizzarri, Martina Verzani, Daniela Fava, Mariacarolina Salerno , et al. · 2022

Objective This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology during the first wave of coronavirus disease 2019 pandemic (March–September 2020), c…

Endothelial Dysfunction in Childhood Cancer Survivors: A Narrative Review Open

Marco Crocco, Giuseppe d’Annunzio, Alberto La Valle, Gianluca Piccolo, Decimo Silvio Chiarenza , et al. · 2021

Assessment of endothelial dysfunction in cancer survivors may have a role in the early identification of non-communicable diseases and cardiovascular late effects. Oncological therapies may impair endothelial function. Therefore, in patien…

Hypothalamic-Pituitary and Other Endocrine Surveillance Among Childhood Cancer Survivors Open

Laura van Iersel, Renée L. Mulder, Christian Denzer, Laurie E. Cohen, Helen Spoudeas , et al. · 2021

Endocrine disorders in survivors of childhood, adolescent, and young adult (CAYA) cancers are associated with substantial adverse physical and psychosocial effects. To improve appropriate and timely endocrine screening and referral to a sp…

Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone Open

Marco Crocco, Marta Panciroli, Claudia Milanaccio, Cristina Morerio, Antonio Verrico , et al. · 2021

Atypical teratoid/rhabdoid tumors (AT/RTs) in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene located in chromosome 22q11.2. Although rarely, it can also result from the constitut…

Management of Childhood-onset Craniopharyngioma in Italy: A Multicenter, 7-Year Follow-up Study of 145 Patients Open

Stefano Zucchini, Natascia Di Iorgi, Gabriella Pozzobon, Stefania Pedicelli, Maria Parpagnoli , et al. · 2021

Context Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy. Objective This work aimed to identify patients’ characteristics, type of surgical approach, complications and recurrences, number of pitu…

Correction to: Sleep disturbances in craniopharyngioma: a challenging diagnosis Open

Ramona Cordani, Marco Veneruso, Flavia Napoli, Claudia Milanaccio, Antonio Verrico , et al. · 2021

The original version of this article unfortunately contained a mistake. The keywords “Narcolepsy” and “Pitolisant” are missing. Keywords should be Craniopharyngioma · Sleep · Hypothalamic dysfunction · Sleep-related breathing disorders · H…

Sleep disturbances in craniopharyngioma: a challenging diagnosis Open

Ramona Cordani, Marco Veneruso, Flavia Napoli, Claudia Milanaccio, Antonio Verrico , et al. · 2021

Craniopharyngiomas are rare solid or mixed solid and cystic tumors that arise from Rathke’s pouch remnants along the pituitary-hypothalamic axis, from the sella turcica to the brain third ventricle. Both the tumor and its treatment can lea…

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