Timing, prevalence, and dynamics of thyroid disorders in children and adolescents affected with Down syndrome.

Objectives Limited data on the evolution of thyroid disorders (TD) in Down syndrome (DS) are available. We characterized the timing, prevalence, and dynamics of TD in patients with DS during a long-term follow-up. Methods We retrospectively evaluated 91 children and adolescents with DS (12.

Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg.

Background The coexistence of celiac disease (CD) and obesity/overweight is not unusual. Objective We investigate the prevalence and clinical presentation of CD, detected by screening, among children with excessive weight gain. Methods We enrolled 200 children referred for overweight/obesity to our outpatient clinic.

Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound.

Objectives Data on the predictive values of parameters included in the diagnostic work-up for precocious puberty (PP) remain limited. We detected the diagnostic value of basal sex hormone levels, pelvic ultrasound parameters and bone age assessment for activation of the hypothalamic-pituitary-gonadal axis in girls with PP, in order to help in the decision to perform GnRH testing. Patients and methods We retrospectively considered 177 girls with PP.

Gender Differences at the Onset of Autoimmune Thyroid Diseases in Children and Adolescents.

The incidence of autoimmune thyroid diseases (ATD) may vary with the beginning of reproductive function, although few reports differentiate the incidence before and during the onset of puberty, examining gender bias. We analyzed onset of ATD in a pediatric population to assess gender differences in onset age, disease subtype, pubertal status, autoimmune co-morbidity, family history and treatment, focusing on the interaction between gender and pubertal stage. We retrospectively recorded 382 children and adolescents with ATD.

Gender-based differences in the clustering of metabolic syndrome factors in children and adolescents.

Background We depicted gender-differences in metabolic syndrome (MS) clustering before and after puberty in pediatrics, in order to develop gender specific preventive strategies for childhood obesity. Methods We considered 1079 children and adolescents (529 females and 550 males; mean age 11.5 ± 2.

Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young Type 2.

Background/aim: The relationship between type 1 diabetes mellitus (T1DM) and autoimmune thyropathies is well known and has been described in the literature. Based on present knowledge, the relationship between thyropathies and other forms of diabetes, such as monogenic diabetes, has not been investigated. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young type 2 (MODY2) in comparison with patients with T1DM and a control group.

Evaluation of Allostatic Load as a Marker of Chronic Stress in Children and the Importance of Excess Weight.

Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of physiological stress that promotes a detrimental chronic low-inflammation state. In order to define a correlation between cumulative biological dysregulation and excess weight, we measured AL scores in a pediatric population.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected.

Diet and Lifestyle Role in Homocysteine Metabolism in Turner Syndrome.

Objective: Patients with Turner syndrome (TS) have an unfavorable cardiometabolic profile. Hyperhomocysteinemia is a potential cardiovascular risk factor influenced by genetic and environmental factors, therapies, unbalanced diets and other lifestyle factors. We retrospectively studied the relationship between total plasma homocysteine (Hcy), serum vitamin B12 (B12) and folate concentration in TS patients, taking into account the genetic profile, diet, smoking habits, hormonal therapies and dietary supplements of the subjects.

Serum Calprotectin Level in Children: Marker of Obesity and its Metabolic Complications.

Aim: Elevated calprotectin levels have been reported in obese adults but have not been evaluated in pediatric population. We investigated the characteristics of serum calprotectin in overweight and obese children and its association with metabolic comorbidities.

Methods: We enrolled 131 children (11.

Gynecomastia after euthyroidism restoration in a patient with type 1 diabetes and Graves' disease.

In patients with autoimmune disease, gynecomastia should not be considered as 1 of the first signs of hyperthyroidism, rather it is a breast pathology that can be present even when euthyroidism restoration is achieved. It is unknown whether the autoimmune nature of thyroid disorders or simply the hyperthyroidism effects breast changes.

Smoke exposure and cardio-metabolic profile in youth with type 1 diabetes.

Background: To evaluate the relationship between smoking and metabolic parameters in patients affected by type 1 diabetes (T1D).

Patients And Methods: We enrolled 104 children and young adults (50 females and 54 males) with T1D (aged 16.4 ± 8.

Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype.

Background: The association between oxidative stress (OS) and metabolic syndrome (MetS) has been reported in adults. We analyzed the relation between circulating oxidized low-density lipoproteins (Ox-LDL) and MetS in pediatric ages in order to define whether plasma Ox-LDL levels are correlated to obesity and whether oxidative damage, using serum Ox-LDL levels as a proxy, are associated with MetS.

Methods: We enrolled 178 children (11.

Omitting duodenal biopsy in children with suspected celiac disease and extra-intestinal symptoms.

Background: The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for celiac disease (CD) diagnosis, as suggested by the new European Society for Pediatric Gastroenterology, Hepatology and Nutrition ESPGHAN guidelines.

Methods: In this retrospective study a total of 105 patients, suspected of having CD because of extra-intestinal symptoms and showing serum tissue transglutaminase antibody (anti-tTG) and anti-endomysial antibody (EMA) measurements and HLA genotyping, were considered for the final analysis (33 boys and 72 girls; age range 1.5-17.

Noninvasive assessment of liver steatosis in children: the clinical value of controlled attenuation parameter.

Background: To assess the clinical validity of controlled attenuation parameter (CAP) in the diagnosis of hepatic steatosis in a series of overweight or obese children by using the imperfect gold standard methodology.

Methods: Consecutive children referred to our institution for auxological evaluation or obesity or minor elective surgery were prospectively enrolled. Anthropometric and biochemical parameters were recorded.

A frequent oligogenic involvement in congenital hypothyroidism.

Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in <10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism.

Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4.

Anti-Zinc Transporter Protein 8 Antibody Testing Is Not Informative in Routine Prediabetes Screening in Young Patients with Autoimmune Thyroiditis and Celiac Disease.

Background/aims: Patients with type 1 diabetes mellitus (T1DM), autoimmune thyroiditis (ATD), and celiac disease (CD) are at increased risk for developing other autoimmune diseases. We evaluated zinc transporter 8 (ZnT8) prevalence in patients with ATD and/or CD in order to define the usefulness of ZnT8 autoantibodies for prediabetes screening.

Methods: Eighty-one young patients with ATD and/or CD were included in the study; 32 subjects with clinical onset of T1DM were enrolled as a control group.

Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

Aim Of The Study: Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients.

Music benefits on postoperative distress and pain in pediatric day care surgery.

Postoperative effect of music listening has not been established in pediatric age. Response on postoperative distress and pain in pediatric day care surgery has been evaluated. Forty-two children were enrolled.

Metabolic syndrome in Turner syndrome and relation between body composition and clinical, genetic, and ultrasonographic characteristics.

Background: An increased relative risk of diabetes, ischemic heart disease, atherosclerosis, and hypertension have been reported in Turner syndrome (TS) patients. No data are currently available on the prevalence of metabolic syndrome in TS subjects. We evaluated the frequency of metabolic syndrome in obese and nonobese patients with TS.

Central precocious puberty and granulosa cell ovarian tumor in an 8-year old female.

Ovarian tumors associated with hormonal changes of the peripheral iso-sexual precocious puberty are of common presentation. We describe here a rare case of juvenile granulosa cell tumor in a female with central precocious puberty (CPP). An 8-year old girl with CPP presented with vaginal bleeding four months after the diagnosis and before starting treatment with gonadotropin-releasing hormone (GnRH)-analogs.