Endocrinology

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

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

Diabetes outbreak during COVID19 lock-down in a prediabetic patient with cystic fibrosis long treated with glargine

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

Prevalence of children born small for gestational age with short stature who qualify for growth hormone treatment

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

Microplastics, environment and child health

Authors: Maria Elisabeth Street and Sergio Bernasconi

Definition and prevalence of familial short stature

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

“Impact of COVID-19 pandemic lockdown on early onset of puberty: experience of an Italian tertiary center”

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

Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

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

Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

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

Effects of glucocorticoid pulse therapy on thyroid function and thyroid antibodies in children with graves’ disease

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

Hyperglycaemic hyperosmolar state in an obese prepubertal girl with type 2 diabetes: case report and critical approach to diagnosis and therapy

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

Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty

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

Update on resistance to thyroid hormone syndromeβ

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

Increased incidence of precocious and accelerated puberty in females during and after the Italian lockdown for the coronavirus 2019 (COVID-19) pandemic

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

Incidence and predictors of diabetic ketoacidosis among children with diabetes in west and east Gojjam zone referral hospitals, northern Ethiopia, 2019

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

SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

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

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report

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

Somatic development in children with Shwachman-Diamond syndrome

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

Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience

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

Auxological and endocrinological features in internationally adopted children

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

What’s the name? Weight stigma and the battle against obesity

Childhood obesity has spread worldwide, it is on the rise, starts earlier and is more severe, despite all treatment attempts.

Authors: Rita Tanas, Sergio Bernasconi, Maria Marsella and Giovanni Corsello

MKRN3 and KISS1R mutations in precocious and early puberty

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

OPG/RANK/RANKL signaling axis in patients with type I diabetes: Associations with parathormone and vitamin D

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

Practical tools to identify short children born small-for-gestational-age eligible for rhGH treatment according to Italian regulation

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

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

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

Thyrotropin serum levels and coexistence with Hashimoto’s thyroiditis as predictors of malignancy in children with thyroid nodules

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

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series

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

Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a 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

X-linked hypophosphatemic rickets: an Italian experts’ opinion survey

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…

Ovotesticular differences of sex development: male or female? Case series

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

The impact of IGF-I, puberty and obesity on early retinopathy in children: a cross-sectional study

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

Ventricular bigeminy and trigeminy caused by hypophosphataemia during diabetic ketoacidosis treatment: a 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

Dynamic Ghrelin and GH serum levels during combined simultaneous arginine clonidine stimulation test in children with dwarfism

Combined simultaneous arginine clonidine stimulation (CSACS) test represents a more appropriate stimulus to detect Ghrelin, for it does not affect glucose metabolism.

Authors: Guangzhong Zhou and Rongzeng Du

Novel DNA variation of GPR54 gene in familial central precocious puberty

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

Hepatomegaly and type 1 diabetes: a clinical case of Mauriac’s syndrome

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

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

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

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome

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

Improvement of treatment adherence with growth hormone by easypod™ device: experience of an Italian centre

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

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

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

Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics

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…

Epidemiology and risk factors of hypovitaminosis D in a cohort of internationally adopted children: a retrospective study

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

Inhibin B in healthy and cryptorchid boys

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

Vitamin D in pediatric age: consensus of the Italian Pediatric Society and the Italian Society of Preventive and Social Pediatrics, jointly with the Italian Federation of Pediatricians

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…

Congenital hypopituitarism: how to select the patients for genetic analyses

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

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?

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

Vitamin D levels and parathyroid hormone variations of children living in a subtropical climate: a data mining study

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

Epidemiological and clinical aspects of autoimmune thyroid diseases in children with Down’s syndrome

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

Subclinical hypothyroidism in children: is it always subclinical?

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

The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome

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

Thyroid function test evolution in children with Hashimoto’s thyroiditis is closely conditioned by the biochemical picture at diagnosis

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

Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome

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