Pubertal, Auxological, and Adult Height Outcomes in Children Treated for Adrenocortical Tumors: Half a Century Experience.

Introduction: Most children with adrenocortical tumors (ACTs) present with accelerated growth and skeletal maturation at diagnosis, which potentially compromises their adult heights (AHs). Knowledge about growth and pubertal patterns after ACT resection is scarce. This study presents the pubertal and auxological development of patients treated for ACT and followed up at a single pediatric endocrinology service in Brazil.

Apolipoprotein M gene polymorphisms in childhood-onset type 1 diabetes in southern Brazil.

Unlabelled: Type 1 diabetes mellitus (T1DM), associated with autoimmune destruction of pancreatic β cells, is observed in children and adolescents.

Objective: We investigated the potential association of the apolipoprotein M () polymorphisms rs707921, rs805264, rs805296, rs805297, and rs9404941 in childhood-onset T1DM ( = 144) and compared them to those in healthy (mostly Euro-Brazilian) children ( = 168).

Methods: This project was approved by the Ethics Committee of the Federal University of Parana (CAAE 24676613.

Cerebral Cortical Thickness Morphometry and Neurocognitive Correlations in Adolescents With Congenital Hypothyroidism.

Context: Subtle cognitive impairments have been described in children with congenital hypothyroidism (CH) detected by neonatal screening (NS), even with early and adequate treatment. Patients with CH may present with brain cortical thickness (CT) abnormalities, which may be associated with neurocognitive impairments.

Objective: This work aimed to evaluate the CT in adolescents with CH detected by the NS Program (Paraná, Brazil), and to correlate possible abnormalities with cognitive level and variables of neurocognitive prognosis.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism.

Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education.

Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III).

Skeletal changes of the axial axis and lower limbs in overweight children and adolescents.

Objective: To evaluate the presence of axial skeletal deviations in children and adolescents and to relate them to body mass index (BMI), age and sex.

Methods: 101 patients aged 7 to 17 years old were included in this study; exclusion criteria were primary orthopedic diseases and syndromes or treatments that affect growth. Patients were grouped according to their BMI Z-score: eutrophic (n=29), overweight (n=18) and obese (n=54).

Effects of resistance training on the glycemic control of people with type 1 diabetes: a systematic review and meta-analysis.

Resistance training has shown the potential to contribute to better glycemic control in people with Type 1 Diabetes (T1D), however, there are contradictory results in this regard and a need to clarify the effects of isolated resistance training on glycemic control in T1D. The aim was to verify the effects of resistance training on the glycemic control of people with T1D. Original articles were selected, randomized and non-randomized clinical trials that aimed to verify chronic responses, through the concentrations of glycated hemoglobin (HbA1c), to a structured program of resistance exercise in the glycemia of patients with T1D.

Acute changes in glucose induced by continuous or intermittent exercise in children and adolescents with type 1 diabetes.

Objective: To estimate the rate of change during exercise and during recovery in moderate-continuous exercise (MCE) and high-intensity intermittent exercise (HIIE) in children and adolescents with type 1 diabetes (T1D).

Methods: Participants performed 2 sessions of exercise: thirty minutes of continuous activity on a cycle ergometer (60% of VO) and thirty minutes (60% VO) interspersed with five bouts of maximum intensity lasting ten seconds every five minutes. Capillary blood glucose was measured before and after each test.

Vocal Characteristics of Children With Short Stature Before and After Growth Hormone Treatment.

Objective: To evaluate the vocal characteristics of children with short stature before and 12 months after growth hormone treatment.

Material And Methods: This analytical, observational cohort study included 23 children (age 5-11 years) diagnosed with short stature. Children in the short stature group (SSG) were matched (1:1) for age and sex with children with normal growth (normal stature group; NSG).

Influence of Insulin Application Time and High-Intensity Intermittent Exercise on Hypoglycemic Risk in Adolescents With Type 1 Diabetes.

Purpose: The study analyzed the influence of exercise on hypoglycemia episodes postexercise and in the subsequent 24 hours in children and adolescents with type 1 diabetes.

Methods: Thirty young people performed the same protocol of physical exercises for 1 hour (Ex1h) and 2 hours (Ex2h) after the administration of insulin. They performed 30 minutes of exercise on a cycle ergometer with a load of 60% of maximal oxygen uptake, interspersed with maximum intensity sprints lasting 10 seconds every 5 minutes.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil.

Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients. Methods Clinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).

Different amounts of moderate to vigorous physical activity and change in glycemic variability in adolescents with type 1 diabetes: is there dose-response relationship?

Objective: To identify the level of physical activity and glycemic variability of adolescents with type 1 diabetes mellitus and to compare glycemic variability on days with different amounts of moderate to vigorous physical activity (MVPA).

Subjects And Methods: A sample of 34 subjects aged 10 to 15 years, 18 (52.94%) female; age: 13.

Bone mass and dietary intake in children and adolescents with type 1 diabetes mellitus.

Objectives: To evaluate the bone mineral density (BMD) in children/adolescents with type 1 diabetes mellitus (T1DM) and its association with the nutritional intake, metabolic control, and physical activity level of this population.

Methods: Study including 34 patients with T1DM and 17 controls. Assessments included the participants disease history, intake of macronutrient, calcium, phosphorus and magnesium, physical activity level, total body and lumbar spine BMD and serum levels of glycated hemoglobin, vitamin D, calcium, phosphorus, magnesium, osteocalcin and C-terminal telopeptide.

DIABETIC KETOACIDOSIS AS THE INITIAL PRESENTATION OF TYPE 1 DIABETES IN CHILDREN AND ADOLESCENTS: EPIDEMIOLOGICAL STUDY IN SOUTHERN BRAZIL.

Objective: To analyze the variables associated with the presence of diabetic ketoacidosis in type 1 diabetes mellitus (T1DM) diagnosis and its impact on the progression of the disease.

Methods: We reviewed the records of 274 children and adolescents under 15 years, followed in a Pediatric Endocrinology clinic of a university hospital in Curitiba-PR. They had their first appointment between January 2005 and April 2015.

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS).

Materials And Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outcomes were changes in growth velocity (GV) and height standard deviation scores (SDS) for normal (height-CDC SDS) and Noonan standards (height-NS SDS).

Health-related quality of life in a cohort of youths with type 1 diabetes.

Objective: Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM.

Material And Methods: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD).

Phonological acquisition in children with early-treated congenital hypothyroidism: association with clinical and laboratory parameters.

Purpose: To evaluate the phonological characteristics of children with congenital hypothyroidism (CH).

Methods: Observational, analytical, cross-sectional, ambispective study including prepubertal children with CH (n=100; study group, SG) and controls without CH ( n=100; control group, CG). Assessments included a speech language pathology interview, the phonological evaluation of the ABFW Child Language Test, medical data, and neuropsychological tests in the first three years of life.

Resistance exercise alone improves muscle strength in growth hormone deficient males in the transition phase.

Background During the transition phase (TP), patients with growth hormone deficiency (GHD) exhibit decreased muscle strength. Studies assessing the effects of resistance exercise alone on muscle strength in these individuals are scarce. The objective of this study was to evaluate the effects of a program of resistance exercise (PRE) on parameters of muscle strength in subjects in the TP and with childhood-onset GHD treated with recombinant GH (rGH).

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Aim: Resistance to thyroid hormone (RTH), characterized by persistent hyperthyroxinemia with non-suppressed thyrotropin (TSH), is mostly caused by mutations in thyroid hormone receptor beta gene (THRB). Two differential diagnoses should be considered due to similar clinical and laboratory findings: TSH-producing pituitary adenoma (TPA) and Familial Dysalbuminemic Hyperthyroxinemia (FDH). The aim of this study is to describe our single tertiary center experience in the molecular diagnosis of RTH in Brazilian patients, analyzing their clinical and laboratory characteristics and the most common differential diagnosis.

Vocal Evaluation of Children with Congenital Hypothyroidism.

Objective: To evaluate the vocal characteristics of a group of children with congenital hypothyroidism (CH) and the association of these characteristics with the children's clinical, laboratory, and therapeutic profiles.

Matherial And Methods: Observational, analytical, cross-sectional study including 200 prepubertal children, of whom 100 had CH (study group [SG]) and 100 had no CH (control group [CG]). The following parameters were evaluated: 1) history (identification, complaints, and interfering variables), 2) auditory-perceptual and acoustic evaluation (samples analyzed by a group of specialists, and objectively by a computer program), 3) self-assessment scores in the Pediatric Voice-Related Quality-of-Life (PVRQoL) survey, 4) laryngological evaluation (presence or absence of laryngeal lesions and data regarding glottal closure), and 5) medical records (CH etiology, age at treatment initiation, disease severity at diagnosis, treatment quality, and thyroid function tests on the day of the examination).

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

Context: Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).

Objective: To search for candidate genes in hypothyroid children with TE.

Physical Activity Levels of Adolescents with Type 1 Diabetes Physical Activity in T1D.

Unlabelled: The aim of this study was to evaluate the level of physical activity and cardiorespiratory fitness in teenagers with type 1 diabetes mellitus (T1D) in comparison with healthy scholar participants. Total of 154 teenagers (T1D = 45 and CON = 109). Height, weight, cardiorespiratory fitness (VO), and the level of physical activity by the Bouchard's Physical Activity Record were measured, and glycated hemoglobin (HbA1c) in T1D.

Functional promoter polymorphisms of the receptor for advanced glycation end products in children and adolescents with type 1 diabetes.

RAGE promoter polymorphisms are associated with increases in RAGE expression. A case-control association study was conducted involving a Euro-Brazilian population of children and adolescents with type 1 diabetes (n = 90) and healthy controls (n = 105), which were matched by sex and age. Genotyping by PCR-RFLP the -429T>C (rs1800625), -374T>A (rs1800624), and 63 bp deletion/insertion (-407 to -345 bp) showed no significant differences (P > 0.

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

Background/aims: Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues.

Assessment of skeletal and dental ages of children and adolescents with type 1 diabetes mellitus.

The present study aimed to assess the skeletal and dental ages of type 1 diabetes mellitus (T1DM) patients. Therefore, panoramic and hand-wrist radiographs of 82 patients, aged between 5 and 15 years, were collected and divided into case and control groups. The case group consisted of 41 panoramic and 41 hand-wrist radiographs of T1DM patients, whereas the control group consisted of 41 panoramic and 41 hand-wrist radiographs of patients without T1DM.