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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. Content type: Case report

    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

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  2. Content type: Research

    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

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  3. Content type: Case report

    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

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  4. Content type: Research

    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

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  5. Content type: Case report

    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

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  7. Content type: Research

    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

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  8. Content type: Case report

    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

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  9. Content type: Case report

    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

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  10. Content type: Commentary

    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

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  11. Content type: Research

    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

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  12. Content type: Case report

    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

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  13. Content type: Review

    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

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  14. Content type: Research

    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

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  15. Content type: Review

    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

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  16. Content type: Review

    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

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  17. Content type: Commentary

    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

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  18. Content type: Case report

    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

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  19. Content type: Research

    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

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  20. Content type: Commentary

    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

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  21. Content type: Commentary

    Aim of this commentary is to report current knowledges on the main clinical and metabolic abnormalities which might be observed in children with longstanding and untreated subclinical hypothyroidism (SH) and t...

    Authors: R. Gallizzi, C. Crisafulli, T. Aversa, G. Salzano, F. De Luca, M. Valenzise and G. Zirilli

    Citation: Italian Journal of Pediatrics 2018 44:25

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  22. Content type: Letter to the Editor

    Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mo...

    Authors: M. C. Maggio, A. De Pietro, P. Porcelli, F. Serraino, T. Angileri, A. Di Peri and G. Corsello

    Citation: Italian Journal of Pediatrics 2018 44:24

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  23. Content type: Commentary

    Aim of this commentary is to summarize the salient literature views on the relationships between presentation and evolution patterns of thyroid function in children with Hashimoto’s thyroiditis (HT).

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

    Citation: Italian Journal of Pediatrics 2018 44:22

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  24. Content type: Research

    The available studies concerning the influence of age on the phenotypical expression of differentiated thyroid carcinoma (DTC) have hitherto compared DTC presentation either between pre-pubertal and pubertal c...

    Authors: Giuseppina Zirilli, Laura Cannavò, Francesco Vermiglio, Maria Antonia Violi, Filippo De Luca and Malgorzata Wasniewska

    Citation: Italian Journal of Pediatrics 2018 44:13

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  25. Content type: Commentary

    Aim of this commentary is to analyze the current views about the phenotypic features of Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) in Turner syndrome (TS) girls, in terms of epidemiology, clinical a...

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

    Citation: Italian Journal of Pediatrics 2018 44:12

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  26. Content type: Research

    Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screen...

    Authors: Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot and Franco Antoniazzi

    Citation: Italian Journal of Pediatrics 2018 44:10

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  27. Content type: Research

    There is increasing recognition that sleep is a risk factor for metabolic syndrome (MetS). The aim of the present study was to analyze the relationship between self-reported sleep duration, sleep-related probl...

    Authors: Leonardo Pulido-Arjona, Jorge Enrique Correa-Bautista, Cesar Agostinis-Sobrinho, Jorge Mota, Rute Santos, María Correa-Rodríguez, Antonio Garcia-Hermoso and Robinson Ramírez-Vélez

    Citation: Italian Journal of Pediatrics 2018 44:9

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  29. Content type: Case report

    Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation...

    Authors: Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone and Flavia Prodam

    Citation: Italian Journal of Pediatrics 2017 43:94

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  31. Content type: Review

    Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may t...

    Authors: Stefano Stagi, Perla Scalini, Giovanni Farello and Alberto Verrotti

    Citation: Italian Journal of Pediatrics 2017 43:81

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  32. Content type: Research

    Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the ...

    Authors: Mariella Valenzise, Tommaso Aversa, Angiola Saccomanno, Filippo De Luca and Giuseppina Salzano

    Citation: Italian Journal of Pediatrics 2017 43:69

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  33. Content type: Review

    Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tal...

    Authors: Cristina Meazza, Chiara Gertosio, Roberta Giacchero, Sara Pagani and Mauro Bozzola

    Citation: Italian Journal of Pediatrics 2017 43:66

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  34. Content type: Case report

    Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can explain it through the presence of endocrinological pathologies. Therefore, if SS is present since the first months of l...

    Authors: Paolo Cavarzere, Valentina Bortolotti, Michela Capogna, Margherita Guarnieri, Francesca Lucca, Rossella Gaudino, Stefano Marzini, Claudia Banzato and Franco Antoniazzi

    Citation: Italian Journal of Pediatrics 2017 43:64

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  35. Content type: Case Report

    Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a def...

    Authors: Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli and Marco Cappa

    Citation: Italian Journal of Pediatrics 2017 43:57

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  38. Content type: Research

    To investigate the association of serum uric acid (SUA) with cardiometabolic abnormalities in Caucasian overweight/obese children (<10 years of age) versus adolescents (≥10 years of age) by drawing age and gen...

    Authors: Rosa Luciano, Blegina Shashaj, MariaRita Spreghini, Andrea Del Fattore, Carmela Rustico, Rita Wietrzykowska Sforza, Giuseppe Stefano Morino, Bruno Dallapiccola and Melania Manco

    Citation: Italian Journal of Pediatrics 2017 43:3

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  39. Content type: Commentary

    Aim of this commentary is to report the most recent views about natural history of subclinical hypothyroidism (SH) according to the different etiologies. In children with idiopathic SH the natural evolution is...

    Authors: Mariella Valenzise, Tommaso Aversa, Giuseppina Zirilli, Giuseppina Salzano, Domenico Corica, Simona Santucci and Filippo De Luca

    Citation: Italian Journal of Pediatrics 2017 43:2

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  40. Content type: Research

    The objective of the research was to investigate vascular endothelial growth factor (VEGF) levels in the context of lipid metabolism and amount of yeast-like fungi colonizing the digestive tract in children an...

    Authors: Katarzyna Zorena, Beata Kowalewska, Małgorzata Szmigiero-Kawko, Piotr Wąż and Małgorzata Myśliwiec

    Citation: Italian Journal of Pediatrics 2016 42:107

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  41. Content type: Research

    Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases charac...

    Authors: L. de Sanctis, F. Giachero, G. Mantovani, G. Weber, M. Salerno, G. I. Baroncelli, F. M. Elli, P. Matarazzo, M. Wasniewska, L. Mazzanti, G. Scirè and D. Tessaris

    Citation: Italian Journal of Pediatrics 2016 42:101

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  42. Content type: Research

    PATRO Children is an ongoing observational, longitudinal, non-interventional, global post-marketing surveillance study, which is investigating the long-term safety and effectiveness of Omnitrope®, a somatropin...

    Authors: Lorenzo Iughetti, Gianluca Tornese, Maria Elisabeth Street, Flavia Napoli, Claudia Giavoli, Franco Antoniazzi, Stefano Stagi, Caterina Luongo, Sara Azzolini, Letizia Ragusa, Gianni Bona, Clara Zecchino, Tommaso Aversa, Luca Persani, Laura Guazzarotti, Emiliano Zecchi…

    Citation: Italian Journal of Pediatrics 2016 42:93

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  43. Content type: Review

    Peripheral quantitative computed tomography provides an automatical scan analysis of trabecular and cortical bone compartments, calculating not only their bone mineral density (BMD), but also bone geometrical ...

    Authors: Stefano Stagi, Loredana Cavalli, Tiziana Cavalli, Maurizio de Martino and Maria Luisa Brandi

    Citation: Italian Journal of Pediatrics 2016 42:88

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  45. Content type: Research

    Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the ...

    Authors: Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso and Marco Cappa

    Citation: Italian Journal of Pediatrics 2016 42:73

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  46. Content type: Review

    The current treatment approach for type 1 diabetes is based on daily insulin injections, combined with blood glucose monitoring. However, administration of exogenous insulin fails to mimic the physiological ac...

    Authors: Bernard Okere, Laura Lucaccioni, Massimo Dominici and Lorenzo Iughetti

    Citation: Italian Journal of Pediatrics 2016 42:62

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  47. Content type: Case report

    In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentation...

    Authors: Pierluigi Marzuillo, Anna Grandone, Silverio Perrotta, Laura Ruggiero, Carlo Capristo, Caterina Luongo, Emanuele Miraglia del Giudice and Laura Perrone

    Citation: Italian Journal of Pediatrics 2016 42:61

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  48. Content type: Case report

    Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity.

    Authors: Grazia Bossi, Chiara Gertosio, Cristina Meazza, Giovanni Farello and Mauro Bozzola

    Citation: Italian Journal of Pediatrics 2016 42:14

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  49. Content type: Case report

    Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to ...

    Authors: Ewa Blachowska, Elżbieta Petriczko, Anita Horodnicka-Józwa, Agata Skórka, Magdalena Pelc, Małgorzata Krajewska-Walasek and Mieczysław Walczak

    Citation: Italian Journal of Pediatrics 2016 42:10

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  50. Content type: Research

    Growth hormone (GH) has a strong positive influence on bone, stimulating both bone elongation and increase in size. The aim of the study was to compare the effect of two different GH dosages on final height an...

    Authors: Fiorenzo Lupi, Mauro Bozzola, Silvia Longhi, Giovanni Farello and Giorgio Radetti

    Citation: Italian Journal of Pediatrics 2016 42:5

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