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Pediatric Endocrinology and Diabetology

This section considers studies regarding all aspects of endocrinology and diabetology in children and adolescents.

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  2. The COVID-19 pandemic period is having a strong impact on the management of diabetes as well as other chronic diseases as shown by the most severe clinical presentation at onset. The aim of this study was to e...

    Authors: Concetta Mastromauro, Annalisa Blasetti, Marina Primavera, Lucio Ceglie, Angelika Mohn, Francesco Chiarelli and Cosimo Giannini
    Citation: Italian Journal of Pediatrics 2022 48:26
    Content type: Research Published on:

  3. over the last few decades there has been a progressive decline in the average age of onset of pubertal development stages in both sexes. The increase in the prevalence of childhood obesity seems to play an imp...

    Authors: Vittorio Ferrari, Simona Stefanucci, Marta Ferrari, Daniele Ciofi and Stefano Stagi
    Citation: Italian Journal of Pediatrics 2022 48:20
    Content type: Research Published on:

  4. The dramatic increase in overweight and obesity among children and adolescents has become a major public health problem. Obesity in children and young adults is associated with an increased prevalence of cardi...

    Authors: Antonio Nicolucci and Claudio Maffeis
    Citation: Italian Journal of Pediatrics 2022 48:9
    Content type: Review Published on:

  5. Recently, we observed some cases of Precocious Puberty (PP) with a partial central activation of hypothalamic-pituitary-gonadal (HPG) axis that tended to normalized in 6–12 months. To evaluate the frequency of...

    Authors: Valentina Assirelli, Federico Baronio, Rita Ortolano, Giulio Maltoni, Stefano Zucchini, Valeria Di Natale and Alessandra Cassio
    Citation: Italian Journal of Pediatrics 2021 47:210
    Content type: Research Published on:

  6. The social consequences of COVID-19 pandemic are universally known. In particular, the pediatric population is dealing with a radical lifestyle change. For some risk categories, such as overweight or obese chi...

    Authors: M. Valenzise, F. D’Amico, U. Cucinotta, C. Lugarà, G. Zirilli, A. Zema, M. Wasniewska and G. B. Pajno
    Citation: Italian Journal of Pediatrics 2021 47:209
    Content type: Research Published on:

  7. In healthy adolescents, delayed pubarche is generally a benign condition that is caused by a physiological discrepancy between gonadarche and adrenarche. In presence of other clinical signs and symptoms, delay...

    Authors: Francesco Baldo, Egidio Barbi and Gianluca Tornese
    Citation: Italian Journal of Pediatrics 2021 47:180
    Content type: Review Published on:

  8. The Post-traumatic Stress Disorder (PTSD) is a group of persistent psychological and physiological symptoms due to a traumatic, severe, event. Only few studies focused on the effects of Covid-19 on psychosocia...

    Authors: C. Carducci, N. Rapini, A. Deodati, V. Pampanini, S. Cianfarani and R. Schiaffini
    Citation: Italian Journal of Pediatrics 2021 47:176
    Content type: Research Published on:

  10. Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImm...

    Authors: Alessandra Fierabracci, Mariafrancesca Lanzillotta, Ivana Vorgučin, Alessia Palma, Dragan Katanić and Corrado Betterle
    Citation: Italian Journal of Pediatrics 2021 47:126
    Content type: Case report Published on:

  11. Cystic Fibrosis Related Diabetes (CFRD) is a frequent comorbidity of patients with Cystic Fibrosis (CF). A worsening of clinical conditions appears before CFRD. It has been demonstrated a decline in pulmonary ...

    Authors: Francesco Maria Rosanio, Enza Mozzillo, Chiara Cimbalo, Alberto Casertano, Angela Sepe, Valeria Raia, Adriana Franzese and Antonella Tosco
    Citation: Italian Journal of Pediatrics 2021 47:121
    Content type: Case report Published on:

  12. Recombinant human growth hormone (rhGH) is approved in Europe as a treatment for short children born small for gestational age (SGA) since 2003. However, no study evaluated the prevalence of SGA children with ...

    Authors: Gianluca Tamaro, Mariagrazia Pizzul, Giuliana Gaeta, Raffaella Servello, Marina Trevisan, Patricia Böhm, Paola Manera Ada Materassi, Anna Macaluso, Denis Valentini, Maria Chiara Pellegrin, Egidio Barbi and Gianluca Tornese
    Citation: Italian Journal of Pediatrics 2021 47:82
    Content type: Research Published on:

  14. To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured.

    Authors: Veronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, Fabio Sirchia, Egidio Barbi and Gianluca Tornese
    Citation: Italian Journal of Pediatrics 2021 47:56
    Content type: Research Published on:

  15. At the end of 2019, an emerging atypical pneumonia called COVID-19 (coronavirus disease 2019), caused by the novel coronavirus defined as SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), was first...

    Authors: Martina Verzani, Carla Bizzarri, Laura Chioma, Giorgia Bottaro, Stefania Pedicelli and Marco Cappa
    Citation: Italian Journal of Pediatrics 2021 47:52
    Content type: Letter to the Editor Published on:

  16. Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neu...

    Authors: Valentina Orlandi, Paolo Cavarzere, Laura Palma, Rossella Gaudino and Franco Antoniazzi
    Citation: Italian Journal of Pediatrics 2021 47:50
    Content type: Case report Published on:

  17. Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and T...

    Authors: Daniele Tessaris, Elisa Bonino, Giovanna Weber, Malgorzata Wasniewska, Domenico Corica, Marco Pitea, Giuseppe Scirè, Manuela Caruso-Nicoletti, Danilo Fintini and Luisa de Sanctis
    Citation: Italian Journal of Pediatrics 2021 47:48
    Content type: Research Published on:

  18. Glucocorticoid treatment is used in children with Graves’ disease (GD) only in cases of exophthalmos. The purpose of this study was to observe the effects of glucocorticoid pulse therapy on thyroid function an...

    Authors: Yanyan Hu, Yulin Man, Xuemei Sun and Yongzhen Xue
    Citation: Italian Journal of Pediatrics 2021 47:46
    Content type: Research Published on:

  19. Isolated Hyperosmolar Hyperglycaemic Syndrome (HHS) is a life-threatening condition characterized by elevated serum glucose concentrations and hyperosmolality without significant ketosis. It is often described...

    Authors: Angelika Mohn, Nella Polidori, Valeria Castorani, Laura Comegna, Cosimo Giannini, Francesco Chiarelli and Annalisa Blasetti
    Citation: Italian Journal of Pediatrics 2021 47:38
    Content type: Case report Published on:

  20. Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous g...

    Authors: Francesca Aiello, Grazia Cirillo, Alessandra Cassio, Raffaella Di Mase, Gianluca Tornese, Giuseppina R. Umano, Emanuele Miraglia del Giudice and Anna Grandone
    Citation: Italian Journal of Pediatrics 2021 47:5
    Content type: Research Published on:

  21. Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-...

    Authors: Hongping Sun, Lin Cao, Rendong Zheng, Shaofeng Xie and Chao Liu
    Citation: Italian Journal of Pediatrics 2020 46:168
    Content type: Review Published on:

  22. The timing of puberty in girls is occurring at an increasingly early age. While a positive family history is recognised as a predisposing factor for early or precocious puberty, the role of environmental facto...

    Authors: Stefano Stagi, Salvatore De Masi, Erica Bencini, Stefania Losi, Silvia Paci, Maria Parpagnoli, Franco Ricci, Daniele Ciofi and Chiara Azzari
    Citation: Italian Journal of Pediatrics 2020 46:165
    Content type: Research Published on:

  23. Recurrent diabetic ketoacidosis in patients with known diabetes mellitus remains a relevant problem in pediatrics with an incidence of 1–10% per patient. Children may die because of cerebral edema and had a si...

    Authors: Birtukan Assefa, Haymanot Zeleke, Rajalakshmi Murugan and Kalkidan Wondwossen
    Citation: Italian Journal of Pediatrics 2020 46:164
    Content type: Research Published on:

  24. The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indi...

    Authors: Silvia Vannelli, Maria Baffico, Raffaele Buganza, Francesca Verna, Giulia Vinci, Daniele Tessaris, Gianpaolo Di Rosa, Alberto Borraccino and Luisa de Sanctis
    Citation: Italian Journal of Pediatrics 2020 46:163
    Content type: Research Published on:

  25. A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrop...

    Authors: Stefania Pedicelli, Luca de Palma, Caterina Pelosini and Marco Cappa
    Citation: Italian Journal of Pediatrics 2020 46:158
    Content type: Case report Published on:

  26. Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients p...

    Authors: Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska and Mieczysław Szalecki
    Citation: Italian Journal of Pediatrics 2020 46:151
    Content type: Research Published on:

  27. Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithm...

    Authors: Alberto Casertano, Arianna De Matteis, Enza Mozzillo, Francesco Maria Rosanio, Pietro Buono, Valentina Fattorusso and Adriana Franzese
    Citation: Italian Journal of Pediatrics 2020 46:131
    Content type: Research Published on:

  28. In internationally adopted children disorders of linear growth, puberty development, thyroid function, and bone metabolism are frequently reported. It is important that these children receive careful auxologic...

    Authors: Stefano Stagi, Valeria Papacciuoli, Djibril Boiro, Chiara Maggioli, Niane Ndeye Ndambao, Stefania Losi, Elena Chiappini, Sonia Toni and Ousmane Ndiaye
    Citation: Italian Journal of Pediatrics 2020 46:82
    Content type: Review Published on:

  30. Pubertal timing is known to be influenced by interactions among various genetic, nutritional, environmental and socio-economic factors, although the ultimate mechanisms underlying the increase in pulsatile GnR...

    Authors: Sara Pagani, Valeria Calcaterra, Gloria Acquafredda, Chiara Montalbano, Elena Bozzola, Pietro Ferrara, Manuela Gasparri, Alberto Villani and Mauro Bozzola
    Citation: Italian Journal of Pediatrics 2020 46:39
    Content type: Research Published on:

  31. Type 1 diabetes (T1D) has been associated with a higher fracture risk due to alterations in bone structure and metabolism. On the other hand, the important role of the RANKL/OPG/RANK signaling axis in bone phy...

    Authors: Paraskevi Karalazou, Dimitrios Ntelios, Fani Chatzopoulou, Aikaterini Fragou, Maria Taousani, Konstantina Mouzaki, Assimina Galli-Tsinopoulou, Sofia Kouidou and Georgios Tzimagiorgis
    Citation: Italian Journal of Pediatrics 2019 45:161
    Content type: Research Published on:

  32. Recombinant human growth hormone (rhGH) is an approved and effective treatment for short children born small for gestational age (SGA). Prevalence of children eligible for treatment as SGA is reported to be 1:...

    Authors: Gianluca Tornese, Flavia Pricci, Maria Chiara Pellegrin, Marika Villa, Daniela Rotondi, Elvira Agazio and Egidio Barbi
    Citation: Italian Journal of Pediatrics 2019 45:130
    Content type: Commentary Published on:

  33. Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short statu...

    Authors: Maria Cristina Maggio and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2019 45:100
    Content type: Letter to the Editor Published on:

  34. Thyroid cancer (TC) in childhood is a rare disease characterized by an excellent prognosis. Thyroid nodules in children, although less common than in adults, have a greater risk of malignancies, particularly i...

    Authors: Giuseppina Zirilli, Giuseppina Salzano, Domenico Corica, Giovanni Battista Pajno, Cristina Mignosa, Giorgia Pepe, Filippo De Luca and Giuseppe Crisafulli
    Citation: Italian Journal of Pediatrics 2019 45:96
    Content type: Commentary Published on:

  35. The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- an...

    Authors: A. Cattoni, S. Motta, N. Masera, S. Gasperini, A. Rovelli and R. Parini
    Citation: Italian Journal of Pediatrics 2019 45:93
    Content type: Case report Published on:

  36. Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder. A major feature is lateralized overgrowth, which can variably involve a single body district up to the entire hemisome. Visceral asym...

    Authors: Maria Chiara Pellegrin, Alessandro Mauro Spinelli, Gianluca Tornese and Egidio Barbi
    Citation: Italian Journal of Pediatrics 2019 45:79
    Content type: Case report Published on:

  37. X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms ar...

    Authors: F. Emma, M. Cappa, F. Antoniazzi, M. L. Bianchi, I. Chiodini, C. Eller Vainicher, N. Di Iorgi, M. Maghnie, A. Cassio, A. Balsamo, F. Baronio, L. de Sanctis, D. Tessaris, G. I. Baroncelli, S. Mora, M. L. Brandi…
    Citation: Italian Journal of Pediatrics 2019 45:67
    Content type: Research Published on:

  38. The choice of the sex of rearing in patients with ovotesticular differences of sex development (OT-DSD) is difficult. The final decision should be given by the patient himself or herself, but families’ opinion...

    Authors: Maria-Grazia Scarpa, Arianna Lesma, Massimo Di Grazia and Waifro Rigamonti
    Citation: Italian Journal of Pediatrics 2019 45:66
    Content type: Case report Published on:

  39. Childhood obesity has been correlated with coronary heart disease, but the correlation with microvascular disease remains unclear. The retinal microcirculation is affected early in the process of atheroscleros...

    Authors: Carla Bizzarri, Stefania Pedicelli, Antonino Romanzo, Sarah Bocchini, Giorgia Bottaro, Stefano Cianfarani and Marco Cappa
    Citation: Italian Journal of Pediatrics 2019 45:52
    Content type: Research Published on:

  40. Hypophosphatemia has many causes, and is often encountered during DKA (Diabetic Ketoacidosis) treatment. However, it rarely requires clinical intervention.

    Authors: Konrad Miszczuk, Joanna Mroczek-Wacinska, Robert Piekarski, Beata Wysocka- Lukasik, Renata Jawniak and Iwona Ben-Skowronek
    Citation: Italian Journal of Pediatrics 2019 45:42
    Content type: Case report Published on:

  42. Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-c...

    Authors: Nosrat Ghaemi, Martha Ghahraman, Samaneh Noroozi Asl, Rahim Vakili, Fatemeh Fardi Golyan, Meysam Moghbeli and Mohammad Reza Abbaszadegan
    Citation: Italian Journal of Pediatrics 2019 45:10
    Content type: Research Published on:

  43. Hepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurren...

    Authors: Fortunato Lombardo, Stefano Passanisi, Albino Gasbarro, Giovanni Tuccari, Antonio Ieni and Giuseppina Salzano
    Citation: Italian Journal of Pediatrics 2019 45:3
    Content type: Case report Published on:

  44. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse ...

    Authors: Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica and Stefano Stagi
    Citation: Italian Journal of Pediatrics 2018 44:138
    Content type: Case report Published on:

  45. Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we...

    Authors: Tommaso Aversa, Giuseppina Zirilli, Domenico Corica, Filippo De Luca and Malgorzata Wasniewska
    Citation: Italian Journal of Pediatrics 2018 44:136
    Content type: Commentary Published on:

  46. One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correl...

    Authors: Maria Cristina Maggio, Beatrice Vergara, Paolo Porcelli and Giovanni Corsello
    Citation: Italian Journal of Pediatrics 2018 44:113
    Content type: Research Published on:

  47. Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which p...

    Authors: Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz and Paolo Cavarzere
    Citation: Italian Journal of Pediatrics 2018 44:110
    Content type: Case report Published on:

  48. The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention of Obesity in Children and Adolescents integrates and updates the previous guidelines to deliver an evidence based approach to th...

    Authors: Giuliana Valerio, Claudio Maffeis, Giuseppe Saggese, Maria Amalia Ambruzzi, Antonio Balsamo, Simonetta Bellone, Marcello Bergamini, Sergio Bernasconi, Gianni Bona, Valeria Calcaterra, Teresa Canali, Margherita Caroli, Francesco Chiarelli, Nicola Corciulo, Antonino Crinò, Procolo Di Bonito…
    Citation: Italian Journal of Pediatrics 2018 44:88
    Content type: Review Published on:

  49. Predictors of hypovitaminosis D were extensively studied in the adult population, leading to an approximately complete understanding of them, while there is a lack of studies in the pediatric population, espec...

    Authors: Gilda Salerno, Manuela Ceccarelli, Chiara de Waure, Marianna D’Andrea, Danilo Buonsenso, Valerio Faccia, Davide Pata and Piero Valentini
    Citation: Italian Journal of Pediatrics 2018 44:86
    Content type: Research Published on:

  50. Cryptorchidism, the most common male genital abnormality observed in paediatrics, might often be associated with long-term functional consequences and can even reoccur after a successful orchidopexy. Serum mar...

    Authors: Susanna Esposito, Marta Cofini, Donato Rigante, Alberto Leonardi, Laura Lucchetti, Clelia Cipolla, Lucia Lanciotti and Laura Penta
    Citation: Italian Journal of Pediatrics 2018 44:81
    Content type: Review Published on:

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