Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Purpose: To investigate the incidence of nephrolithiasis in a cohort of children with congenital adrenal hyperplasia (CAH), and to study if there is an association with the metabolic control of the disease.

Methods: This study was designed as a multicenter 1 year-prospective study involving 52 subjects (35 males) with confirmed molecular diagnosis of CAH due to 21-hydroxylase deficiency (21-OHD). Each patient was evaluated at three different time-points: T0, T1 (+6 months of follow-up), T2 (+12 months of follow up).

Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.

Context: There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000.

Objective: We aimed to evaluate the causes of CPP in boys diagnosed during the last 2 decades in Italy and the relative frequency of forms with associated central nervous system (CNS) abnormalities on magnetic resonance imaging (MRI) compared to idiopathic ones.

Methods: We performed a national multicenter retrospective study collecting data from 193 otherwise normal healthy boys with a diagnosis of CPP.

Unmet Needs of Pediatricians in Transgender-Specific Care: Results of a Short-Term Training.

Introduction: The aim of this study was to evaluate (i) the knowledge about different dimensions of sexual identity in a group of family pediatricians and (ii) the efficacy of a training program to improve knowledge and reduce genderism and heteronormativity.

Methods: A pre-post-follow-up study was conducted with 96 Italian pediatricians (48 men and 48 women) who participated in a 6-h training program and divided into 2 sections. The first section was theoretical and focused on the conceptual foundations of sexual identity, the depathologizing approach to gender diversity, and the role of pediatricians as the first contacts of children's or adolescents' family.

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of two of the main APECED clinical diseases: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. Non-endocrine autoimmunity, involving the liver, intestine, eyes, and kidneys, is generally reported in a minority of European patients, while American APECED patients have a higher tendency of developing organ-specific non-endocrine manifestations early in life.

From Clinical Scenarios to the Management of Lower Urinary Tract Symptoms in Children: A Focus for the General Pediatrician.

Lower urinary tract symptoms (LUTS) are a relevant problem in the pediatric population, having a very high prevalence. Diurnal incontinence and nocturnal enuresis are surely the most frequent symptoms, presenting, respectively, in up to 30% of school-age children and up to 10% of children between 6 and 7 years. Stypsis is the most common comorbidity, and it must be considered in the management of LUTS; indeed, the treatment of constipation is curative in most cases for both incontinence and enuresis.

Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention.

Background: Despite the optimization of replacement therapy, adrenal crises still represent life-threatening emergencies in many children with adrenal insufficiency.

Objective: We summarized current standards of clinical practice for adrenal crisis and investigated the prevalence of suspected/incipient adrenal crisis, in relation to different treatment modalities, in a group of children with adrenal insufficiency.

Results: Fifty-one children were investigated.

Euthyroid sick syndrome and its association with complications of type 1 diabetes mellitus onset.

Objective: To evaluate (i) the prevalence and association of euthyroid sick syndrome (ESS) [decreased FT3 and/or FT4 and normal/decreased TSH] with severity indexes of type 1 diabetes mellitus (T1DM) onset such as diabetic ketoacidosis (DKA) and kidney damage [acute kidney injury (AKI) based on KDIGO criteria, acute tubular necrosis (ATN), renal tubular damage (RTD)], (ii) relationship between clinical/metabolic parameters at T1DM onset and thyroid hormones, and (iii) ESS as a prognostic indicator of delayed recovery from kidney damage.

Methods: A total of 161 children with T1DM onset were included. RTD was defined by abnormal urinary beta-2-microglobulin and/or neutrophil gelatinase-associated lipocalin (NGAL) and/or tubular reabsorption of phosphate <85% and/or fractional excretion of Na>2%.

Combination therapy (desmopressin plus oxybutynin) improves the response rate compared with desmopressin alone in patients with monosymptomatic nocturnal enuresis and nocturnal polyuria and absence of constipation predict the response to this treatment.

Unlabelled: Combination therapy (CT) (desmopressin plus oxybutynin) has been considered for the treatment of monosymptomatic nocturnal enuresis (MNE). We designed our study with the aim to evaluate the response rate to CT compared with desmopressin alone (primary outcome) and to identify factors associated with the response to CT (secondary outcome). We prospectively enrolled children with MNE with absent/partial response after 3 months of evening treatment with 240 mcg of desmopressin.

Diagnostic Performance of the Acute Kidney Injury Baseline Creatinine Equations in Children and Adolescents with Type 1 Diabetes Mellitus Onset.

Three new equations for calculating the estimated basal serum creatinine (ebSCr) in hospitalized children have been developed: the simplified acute kidney injury (AKI) baseline creatinine (ABC) equation which considered only age in the formula; the equation including age and minimum creatinine (Crmin) within the initial 72 h from hospitalization (ABC-cr); and the equation including Crmin and height, weight, and age as squared values (ABC-advanced). We aimed to test the diagnostic performance of the ABC, ABC-cr and ABC-advanced equations in diagnosing AKI in 163 prospectively enrolled children with type 1 diabetes mellitus (T1DM) onset. We considered measured basal serum creatinine (mbSCr), the creatinine measured 14 days after T1DM onset.

Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism.

Objectives: We designed a multicentre open prospective randomized trial to evaluate the risk-benefit profile of two different initial treatment schemes with levothyroxine (L-T4), 10-12.5 μg/kg/day vs 12.6-15 μg/kg/day, on growth and neurodevelopmental outcomes in children with congenital hypothyroidism (CH) detected by neonatal screening to identify the best range dose to achieve optimal neurocognitive development.

Early Renal Ultrasound in Patients with Congenital Solitary Kidney Can Guide Follow-Up Strategy Reducing Costs While Keeping Long-Term Prognostic Information.

We aimed to evaluate the prognostic value of renal length (RL) > 2 standard deviation scores (SDS) measured by renal ultrasound (RUS), across infancy, childhood and adolescence, in identifying which patients with congenital solitary functioning kidney (CSFK) are at lower risk of developing kidney injury (KI). We also estimated the cost saving of integrating the current follow-up protocols with an early RUS algorithm (ERUSA). Fifty-six CSFK adult patients who were 1-3 months old at first observation of undergoing RUS were enrolled.

Heart rate cut-offs to identify non-febrile children with dehydration and acute kidney injury.

We hypothesized that the heart rate (HR) variation in an acute setting compared with HR in wellbeing status could be a good marker of both dehydration and acute kidney injury (AKI). Since HR in wellbeing status is unknown in most cases, we assumed as reliable surrogate the 50th percentile of HR according to age and gender. We evaluated if the estimated percentage of heart rate variation in acute setting compared with 50th percentile of HR (EHRV) could be marker of dehydration and AKI in children.

Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experience.

Objective: This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology during the first wave of coronavirus disease 2019 pandemic (March-September 2020), compared to subjects observed in the same period of the previous year.

Design: The study population (490 children) was divided according to the year of observation and final diagnosis: transient thelarche, non-progressive precocious puberty, central precocious puberty (CPP), or early puberty.

Results: Between March and September 2020, 338 subjects were referred for suspected precocious puberty, compared to 152 subjects in the same period of 2019 (+122%).

Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency.

Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when overt signs of underlying disease are lacking. Endocrinological diseases as causes of NC are rare and sometimes misdiagnosed.

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.

Context: Severe forms of growth hormone insensitivity (GHI) are characterized by extreme short stature, dysmorphism, and metabolic anomalies.

Objective: This work aims to identify the genetic cause of growth failure in 3 "classical" GHI individuals.

Methods: A novel intronic growth hormone receptor gene (GHR) variant was identified, and in vitro splicing assays confirmed aberrant splicing.

Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).

Context: Severe forms of Growth Hormone Insensitivity (GHI) are characterized by extreme short stature, dysmorphism and metabolic anomalies.

Objective: Identification of the genetic cause of growth failure in 3 'classical' GHI subjects.

Design: A novel intronic GHR variant was identified, and in vitro splicing assays confirmed aberrant splicing.

Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.

Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. The incidence of DSD is 1:4500 births. The current classification divides DSDs into 3 categories according to chromosomal sex: 46,XX DSD, 46,XY DSD and sex chromosome DSD.

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Background: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD).

Methods: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.

Acute Kidney Injury and Renal Tubular Damage in Children With Type 1 Diabetes Mellitus Onset.

Context: Acute kidney injury (AKI) and renal tubular damage (RTD), especially if complicated by acute tubular necrosis (ATN), could increase the risk of later chronic kidney disease. No prospective studies on AKI and RTD in children with type1diabetes mellitus (T1DM) onset are available.

Objectives: To evaluate the AKI and RTD prevalence and their rate and timing of recovery in children with T1DM onset.