Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil.

A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program.

Association of preterm birth with poor metabolic outcomes in schoolchildren.

Objective: To investigate, at school age, the metabolic profile of children born preterm.

Methods: A cross-sectional study of children 5 to 8 years old, born with gestational age (GA) < 34 weeks and/or weight ≤ 1,500 grams. Clinical and anthropometric data were assessed by a single trained pediatrician.

Pharmacogenomic markers of glucocorticoid response in congenital adrenal hyperplasia.

Glucocorticoids (GC) replacement are the mainstay treatment for 21-hydroxylase deficiency (21-OHD), the most common cause of congenital adrenal hyperplasia (CAH), in its classical form. There are novel insights into the genetic basis of the GC action diversity that point to an important role for GC receptor (GR) gene polymorphisms, suggesting a possible modulation in occurrence of metabolic disorders, what may be relevant to clinical management of 21-OHD. The aim of this study was to investigate whether the five GR gene polymorphisms Tth111I, ER22, 23EK, BclI, 9β (rs10052957, rs6189, rs6190, rs41423247, rs6198) and their combination into haplotypes are associated to different GC response in a cohort of classic 21-OHD subjects.

Infection Is Associated With Thyroid Dysfunction in Children With Congenital Hypothyroidism.

() infection leads to a systemic low-grade inflammatory state and has been associated causally with a diverse spectrum of extra-gastric disorders. Among them, the infection has been involved in the pathogenesis of autoimmune thyroid disease (ATD), but only one study had evaluated children. Therefore, a cross-sectional study was conducted in a cohort of 142 children and adolescents, randomly assessed among those followed up for thyroid diseases in a university pediatric endocrinology service: 106 with congenital hypothyroidism (CH) and 36 with ATD.

Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.

Background: Lifelong glucocorticoid (GC) replacement is the mainstay treatment of congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency (21-OHD). Challenges posed by therapeutic management of these patients are well known, but novel insights into the variability in clinical response to GC highlight a role for single nucleotide polymorphisms (SNPs) of the glucocorticoid receptor gene (NR3C1).

Aim: To assess whether six commonly studied NR3C1 SNPs, which were previously associated with modified response to GC, are associated with CAH.

[Formula: see text]Socioeconomic aspects are crucial to better intellectual outcome in early-treated adolescents with congenital hypothyroidism.

Congenital hypothyroidism (CH) is an important cause of preventable intellectual disability. Implementation of CH neonatal screening programs leading to early treatment has improved cognitive outcome. However, more subtle cognitive impairments are still reported, and there is lack of clarity regarding factors that impact long-term cognitive outcome.

INTIMA-MEDIA THICKNESS OF THE CAROTID ARTERIES IS AFFECTED BY PUBERTAL MATURATION IN HEALTHY ADOLESCENTS.

Objective: To contribute to the assessment of normal parameters of carotid intima-media thickness (CIMT) in healthy adolescents.

Methods: A cross-sectional study was conducted through clinical, laboratory and ultrasound evaluation in 61 healthy adolescents. The inclusion criteria consisted of being in good health.

Temporal trend of newly diagnosed type 1 diabetes children and adolescents identified over a 35-year period in a Brazilian institution.

Aims: To evaluate the temporal trend of newly diagnosed Type 1 Diabetes cases over a 35-year period in a reference Pediatric Endocrinology service in the city of Belo Horizonte, Brazil.

Methods: Subjects were all children and adolescents diagnosed with Type 1 Diabetes in the Federal University of Minas Gerais Hospital. Information collected included: gender, age and date of Type 1 diabetes diagnosis.

Oral corticosteroids for asthma exacerbations might be associated with adrenal suppression: Are physicians aware of that?

Introduction: Oral corticosteroids (OCS) are a mainstay of treatment for asthma exacerbations, and short-term OCS courses were generally considered to be safe. Nevertheless, frequent short-term OCS courses could lead to hypothalamic-pituitary-adrenal (HPA) axis dysfunction. Our study aimed at investigating the integrity of the HPA axis in children with persistent asthma or recurrent wheezing at the beginning of an inhaled corticosteroids (ICS) trial.

Imaging methods for bone mass evaluation during childhood and adolescence: an update.

The objective of the work was to prepare an update on imaging methods for bone evaluation during childhood and adolescence. The text was based on original and review articles on imaging methods for clinical evaluation of bone mass in children and adolescents up to 20 years old. They were selected from BIREME and PUBMED by means of the following keywords: bone density; osteoporosis/diagnosis; densitometry; tomography; ultrasonography; magnetic resonance imaging; and radiogrammetry and published in Portuguese or English, in the last 10 years (2006-2016).

Increased carotid intima-media thickness in Brazilian adolescents with type 1 diabetes mellitus.

Background: Increased carotid intima-media thickness (CIMT), a marker of subclinical atherosclerosis, is an independent predictor of future cardiovascular events, and has been reported in children with various chronic diseases, including type 1 diabetes mellitus (DM1).

Objectives: Evaluate CIMT and its association with cardiovascular risk factors in Brazilian adolescents with DM1.

Methods: Cross-sectional study of 118 adolescents, 57 with DM1 and no chronic complications related to the disease, and 61 healthy individuals.

Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Objective: Increased arterial intima-media thickness has been observed in adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). CAH has also been associated with obesity, insulin resistance, and hypertension. The aim of the present study was to compare youths with CAH with healthy, normal-weight individuals, evaluating carotid intima-media thickness (CIMT) and indicative factors of cardiovascular risk to seek for abnormalities in the CAH group.

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.

Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).

Methods: Electronic message was sent to members from Endocrinology Department- Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a search for mutations of the genes ABCC8, KCNJ11, GCK, GLUD1, HADH, SLC16A1 and HNF4A.

Morning serum Basal cortisol levels are affected by age and pubertal maturation in school-aged children and adolescents.

Background: The same reference values for cortisol have been used for adults and children, but laboratory results obtained from an adult population might not be suitable for pediatric patients.

Aims: To determine morning serum basal cortisol levels in children and adolescents.

Methods: The study was conducted on 120 suitable reference individuals, healthy Brazilian children and adolescents from both genders aged 4-19 years old.

Increased prevalence of early cochlear damage in young patients with type 1 diabetes detected by distortion product otoacoustic emissions.

Objective: To evaluate the hearing of adolescents with diabetes mellitus type 1(DM1) by otoacoustic emissions (OAEs), and by comparing different tests with pure-tone audiometry to identify potential early cochlear impairments.

Design: Pure-tone audiometry, transient evoked otoacoustic emissions (TEOAEs), and distortion product otoacoustic emissions (DPOAEs) were performed in a group of adolescents with and without DM1. Clinical characteristics, disease duration, and glycated haemoglobin levels were studied.

[Study of prevalence of celiac disease in children with type 1 diabetes mellitus: result of 10 years of follow-up].

Objective: To estimate the prevalence of celiac disease (CD) in children and adolescents with type 1 diabetes mellitus (T1DM) treated in the Children's Division of Endocrinology, at the Universidade Federal de Minas Gerais Hospital das Clínicas.

Subjects And Methods: Children and adolescents diagnosed with T1DM, aged 0 to 18 year, were included in this study performed from March 1999 to April 2009. All patients were screened for CD at their first visit and, again, annually.

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism.

Objective: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD).

Subjects And Methods: Thirty-one patients with classical 21-OHD who reached their FH in our Institution were evaluated in order to compare the Z score for final height (FHZ) with: (1) the target height, (2) the standard height for the population, and (3) the hydrocortisone treatment schedule.

Results: The FHZ of -2.

[Hyperinsulinemic hypoglycemia of the infancy: analysis of clinical data from a Brazilian sample].

Objective: To review the presentation of hyperinsulinemic hypoglycemia of the infancy (HHI), its treatment and histology in Brazilian pediatric endocrinology sections.

Materials And Method: The protocol analyzed data of birth, laboratory results, treatment, surgery, and pancreas histology.

Results: Twenty-five cases of HHI from six centers were analyzed: 15 male, 3/25 born by vaginal delivery.

Neonatal screening for congenital adrenal hyperplasia.

Objective: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH) is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP) with appropriate cost-effectiveness. This study identified factors affecting the results of the pilot project of newborn screening for CAH, performed in the state of Minas Gerais, Brazil.

Adrenal insufficiency in association with congenital nephrotic syndrome: a case report.

Adrenal disorders in patients with congenital nephrotic syndrome (CNS) have seldom been reported, and the mechanisms that could explain this association are not known. The follow-up of a male infant diagnosed with CNS and primary adrenal insufficiency in his first year of life is the object of this paper.

Risk factors for early onset of diabetic nephropathy in pediatric type 1 diabetes.

Aim: Diabetic nephropathy (DN) is a frequent complication in patients with long-standing type 1 diabetes mellitus (DM1). The objective of this study was to assess the prevalence of DN in DM1 patients diagnosed during childhood and its association with clinical and metabolic variables, such as age at diagnosis of DM1, glucose control, dyslipidemia, hypertension and the occurrence of diabetic retinopathy (DR).

Methods: The medical records of 205 patients admitted to the Pediatric Endocrinology Division at the Hospital das Clinicas da Universidade Federal de Minas Gerais, in Belo Horizonte, Brazil, were analyzed.

Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report.

Polyostotic fibrous dysplasia (FD) associated to McCune-Albright Syndrome (MAS) often leads to fractures, deformities, and bone pain resulting in bad quality of life. Parenteral bisphosphonates have been used in children and adolescents to improve these symptoms with few adverse effects. We evaluated the response to oral Alendronate in a girl with severe MAS FD and observed improved quality of life with reduction of bone pain.

[Relationship between nutrition factors and glycemic control in children and adolescents with type 1 diabetes mellitus].

Objective: To identify nutritional factors that affected the glycemic control of the studied population.

Subjects And Methods: One hundred forty-six children and adolescents, aged 7 to 19 years, followed-up at the Division of Pediatric Endocrinology of the Hospital das Clínicas da Universidade Federal de Minas Gerais participated in the study.The diet of each participant was evaluated by means of a Quantitative Food Frequency Questionnaire, previously validated in a pilot-project.

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

Objective: To search for mutations in DAX1/NR0B1A gene in siblings to establish the molecular etiology of the adrenal hypoplasia congenita (AHC), a rare potentially life-threatening disorder.

Case Report: We describe two siblings who presented with salt-wasting syndrome in the newborn period and received hormonal replacement for primary adrenal insufficiency. A diagnostic hypothesis of AHC was suspected because the children maintained, during hormonal treatment, low plasma 17-OH progesterone (17-OHP) and androgens, despite high ACTH levels.

[Periodontal status in children and adolescents with type 1 diabetes mellitus].

Objective: To evaluate periodontal condition of diabetic children and its related factors.

Methods: The plaque index (PI), sites with bleeding on probing (BOP), probing depth (PD) and clinical attachment level (CAL) were evaluated in all occlusion permanent teeth of 168 non smoking type 1 diabetic children, 13 +/- 3.5 years old.