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Endocrinology

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

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  1. 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:

  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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:

  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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  22. 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

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  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur.

    Authors: Giuseppe Saggese, Francesco Vierucci, Flavia Prodam, Fabio Cardinale, Irene Cetin, Elena Chiappini, Gian Luigi de’ Angelis, Maddalena Massari, Emanuele Miraglia Del Giudice, Michele Miraglia Del Giudice, Diego Peroni, Luigi Terracciano, Rino Agostiniani, Domenico Careddu, Daniele Giovanni Ghiglioni, Gianni Bona…

    Citation: Italian Journal of Pediatrics 2018 44:51

    Content type: Review

    Published on:

  43. Aim of this commentary is to analyze the relationships between genotypic bases and phenotypic expression of congenital “multiple pituitary hormone deficiency” (MPHD) syndrome and to indicate some reliable crit...

    Authors: Giuseppe Crisafulli, Tommaso Aversa, Giuseppina Zirilli, Filippo De Luca, Romina Gallizzi and Malgorzata Wasniewska

    Citation: Italian Journal of Pediatrics 2018 44:47

    Content type: Commentary

    Published on:

  44. The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing mal...

    Authors: Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura and Egidio Barbi

    Citation: Italian Journal of Pediatrics 2018 44:43

    Content type: Case report

    Published on:

  45. Vitamin D and intact parathyroid hormone (iPTH) play a crucial role in calcium homeostasis and bone health of children. Serum level of 25-hydroxyvitamin D (25-OHD) is considered to be the most accurate marker ...

    Authors: Ozlem Naciye Sahin, Muhittin Serdar, Mustafa Serteser, Ibrahim Unsal and Aysel Ozpinar

    Citation: Italian Journal of Pediatrics 2018 44:40

    Content type: Research

    Published on:

  46. Aim of this commentary is to report the main peculiarities that have been found to characterize the phenotypic expression of autoimmune thyroid diseases (AITDs) in children with Down’s syndrome (DS). According...

    Authors: Tommaso Aversa, Giuseppe Crisafulli, Giuseppina Zirilli, Filippo De Luca, Romina Gallizzi and Mariella Valenzise

    Citation: Italian Journal of Pediatrics 2018 44:39

    Content type: Commentary

    Published on:

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