Endocrinology

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

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

SHORT syndrome in a two-year-old girl – case report

SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.

Authors: Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak and Witold Kołłątaj

The link between obesity and migraine in childhood: a systematic review

Obesity and headache are two highly prevalent diseases both in adults and children and they are associated with a strong personal and social impact. Many studies suggest that obesity is comorbid with headache ...

Authors: G. Farello, P. Ferrara, A. Antenucci, C. Basti and A. Verrotti

Percentiles of serum uric acid and cardiometabolic abnormalities in obese Italian children and adolescents

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

Analysis of the factors affecting the evolution over time of subclinical hypothyroidism in children

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

No effect of yeast-like fungi on lipid metabolism and vascular endothelial growth factor level in children and adolescents with type 1 diabetes mellitus

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

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

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

Long-term safety and efficacy of Omnitrope®, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study

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…

Peripheral quantitative computed tomography (pQCT) for the assessment of bone strength in most of bone affecting conditions in developmental age: a 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

The growth and development of children born to adolescent mothers in Taiwan

Adolescent pregnancy carries a higher risk of adverse birth outcomes. Currently, there are very few longitudinal studies that have investigated the growth of children born to adolescents. This study explores t...

Authors: Wei-Ya Wu, Chi-Rong Li, Ching-Pyng Kuo, Yi-Chen Chiang and Meng-Chih Lee

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience

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

Cell therapies for pancreatic beta-cell replenishment

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

Very early onset of autoimmune thyroiditis in a toddler with severe hypothyroidism presentation: a 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

Failure to thrive as presentation in a patient with 22q11.2 microdeletion

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

Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation

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

The effect of two different GH dosages on final height and bone geometry

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

Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto’s thyroiditis to Graves’ disease and beyond

It is known that Hashimoto’s thyroiditis (HT) may progress to Graves’ disease (GD) and that this phenomenon may be more frequent in the patients with Down syndrome (DS).

Authors: Tommaso Aversa, Mariella Valenzise, Mariacarolina Salerno, Andrea Corrias, Lorenzo Iughetti, Giorgio Radetti, Filippo De Luca and Malgorzata Wasniewska

Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study

Linear growth and final height are reported as normal in congenital hypothyroid patients in the neonatal screening era.

Authors: Maurizio Delvecchio, Maria Cristina Vigone, Malgorzata Wasniewska, Giovanna Weber, Rosa Lapolla, Pietro Pio Popolo, Giulia Maria Tronconi, Raffaella Di Mase, Filippo De Luca, Luciano Cavallo, Mariacarolina Salerno and Maria Felicia Faienza

Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency

Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy,...

Authors: Niki Zavras, Cristina Meazza, Alba Pilotta, Chiara Gertosio, Sara Pagani, Carmine Tinelli and Mauro Bozzola

From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis

Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in th...

Authors: Sylwia Kozaczuk and Iwona Ben-Skowronek

Chemerin as a novel non-invasive serum marker of intrahepatic lipid content in obese children

Ectopic hepatic lipid accumulation is closely related to the development of insulin resistance, which is regarded as one of the most significant risk factors of non-alcoholic fatty liver disease (NAFLD). The c...

Authors: Monika Kłusek-Oksiuta, Irena Bialokoz-Kalinowska, Eugeniusz Tarasów, Malgorzata Wojtkowska, Irena Werpachowska and Dariusz Marek Lebensztejn

Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency

Primary adrenal insufficiency is relatively rare in children and, if unrecognized, may present with cardiovascular collapse, making it a potentially life-threatening entity.

Authors: Stefano Stagi, Paolo Del Greco, Franco Ricci, Chiara Iurato, Giovanni Poggi, Salvatore Seminara and Maurizio de Martino

Development and validation of serum bilirubin nomogram to predict the absence of risk for severe hyperbilirubinaemia before discharge: a prospective, multicenter study

Early discharge of healthy late preterm and full term newborn infants has become common practice because of the current social and economic necessities. Severe jaundice, and even kernicterus, has developed in ...

Authors: Costantino Romagnoli, Eloisa Tiberi, Giovanni Barone, Mario De Curtis, Daniela Regoli, Piermichele Paolillo, Simonetta Picone, Stefano Anania, Maurizio Finocchi, Valentina Cardiello, Lucia Giordano, Valentina Paolucci and Enrico Zecca

Obesity and craniopharyngioma

An epidemic of pediatric obesity has occurred across the world in recent years. There are subgroups within the population at high-risk of becoming obese and especially of having experience of precocious cardio...

Authors: Lorenzo Iughetti and Patrizia Bruzzi

The use of ultrasound in clinical setting for children affected by NAFLD: is it safe and accurate?

Non-alcoholic fatty liver disease (NAFLD) has become over the last decade the most common form of chronic liver disease in children and adults. Thus, establishing the diagnosis of NAFLD is of utmost importance...

Authors: Valerio Nobili, Claudia Della Corte, Lidia Monti, Anna Alisi and Ariel Feldstein

Obesity modulate serum hepcidin and treatment outcome of iron deficiency anemia in children: A case control study

Recently, hepcidin expression in adipose tissue has been described and shown to be increased in patients with severe obesity. We tried to assess the effect of obesity on hepcidin serum levels and treatment out...

Authors: Mohammed Sanad, Mohammed Osman and Amal Gharib

Pituitary hyperplasia secondary to acquired hypothyroidism: case report

despite recent progress in imaging, it is still difficult to distinguish between pituitary adenoma and hyperplasia, even using Magnetic Resonance Imaging (MRI) with gadolinium injection. We describe an example...

Authors: Roberto Franceschi, Umberto Rozzanigo, Riccarda Failo, Maria Bellizzi and Annunziata Di Palma

Clinical evaluation of the function of hypothalamo-pituitary-thyroid axis in children with central nervous system infections

It is well known that certain non-thyroidal critical illness may lead to euthyroid sick syndrome(ESS). There are little reports about the change of thyroid hormone in the children's central nervous system (CNS...

Authors: Fuyong Jiao, Xiaoyan Zhang, Taomin Bai, Jing Lin, Wei Cui and Bingweng Liu

Relationship between severe obesity and gut inflammation in children: what's next?

Preliminary evidence suggests an association between obesity and gut inflammation.

Authors: Maria Immacolata Spagnuolo, Maria Pia Cicalese, Maria Angela Caiazzo, Adriana Franzese, Veronica Squeglia, Luca Rosario Assante, Giuliana Valerio, Rossella Merone and Alfredo Guarino

"Mi voglio bene": a pediatrician-based randomized controlled trial for the prevention of obesity in Italian preschool children

The first years of life are crucial to start preventive interventions that can have an impact on lifestyle and later overweight and obesity. Under the Italian National Health System (INHS), children are cared ...

Authors: Paolo Brambilla, Giorgio Bedogni, Carmen Buongiovanni, Guido Brusoni, Giuseppe Di Mauro, Mario Di Pietro, Marco Giussani, Manuel Gnecchi, Lorenzo Iughetti, Paola Manzoni, Maura Sticco and Sergio Bernasconi

Relationship between rickets and incomplete distal renal tubular acidosis in children

In the Sub Saharan Africa Rickets has now been established to be due primarily to calcium deficiency and sometimes in combination with vitamin D deficiency. The main thrust of management is calcium supplementa...

Authors: Abiola O Oduwole, Olayiwola S Giwa and Rasheed A Arogundade

Excessive recreational computer use and food consumption behaviour among adolescents

Using the 2005 California Health Interview Survey (CHIS) data, we explore the association between excessive recreational computer use and specific food consumption behavior among California's adolescents aged ...

Authors: Lu Shi and Yuping Mao

Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity

Ipercaloric diet and reduced physical activity have driven the rise in the prevalence of childhood obesity over a relatively short time interval. Family and twin studies have led to the conclusion that the str...

Authors: Laura Perrone, Pierluigi Marzuillo, Anna Grandone and Emanuele Miraglia del Giudice

Focal nodular hyperplasia of the liver: an unusual association with diabetes mellitus in a child and review of literature

Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in ...

Authors: Piero Farruggia, Rita Alaggio, Francesca Cardella, Serena Tropia, Antonino Trizzino, Francesca Ferrara and Paolo D'Angelo

Role of adiponectin and leptin on body development in infants during the first year of life

The control of growth and nutritional status in the foetus and neonate is a complex mechanism, in which also hormones produced by adipose tissue, such as adiponectin and leptin are involved. The aim of this st...

Authors: Elena Bozzola, Cristina Meazza, Marica Arvigo, Paola Travaglino, Sara Pagani, Mauro Stronati, Antonella Gasparoni, Carolina Bianco and Mauro Bozzola

Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life

evaluation of thyroid function in neonates born from mothers affected by autoimmune thyroiditis in order to define if a precise follow-up is necessary for these children. The influence of maternal thyroid pero...

Authors: Rosanna Rovelli, Maria Cristina Vigone, Chiara Giovanettoni, Arianna Passoni, Ludovica Maina, Andrea Corrias, Carlo Corbetta, Fabio Mosca, Giuseppe Chiumello and Giovanna Weber

Obituary of Dr. Angelo Di George

Authors: Luigi Tarani, Maria C Digilio, Bruno Dallapiccola, Donna M Mc Donald-McGinn and Bruno Marino

Drugs of abuse and the adolescent athlete

Doping with endocrine drugs is quite prevalent in amateur and professional athletes. The World Anti-Doping Agency (WADA) has a list of banned drugs for athletes who compete and a strategy to detect such drugs....

Authors: Alan D Rogol

At the end of a two-year follow-up elevated TSH levels normalize or remain unchanged in most the children with subclinical hypothyroidism

Data about the natural evolution of subclinical hypothyroidism (SH) in pediatric age are very scanty. Moreover all the available reports in both aged and young patients were based on unselected study populatio...

Authors: Filippo De Luca, Malgorzata Wasniewska, Giuseppina Zirilli, Tommaso Aversa and Teresa Arrigo

Toxic environment and obesity pandemia: Is there a relationship?

Obesity is a multi-factorial disease, resulting from genes, environment and behaviour interactions, and represents the most common metabolic disorder in the Western Hemisphere. Its prevalence has dramatically ...

Authors: Giuseppe Latini, Francesco Gallo and Lorenzo Iughetti