The levels of adrenal androgens are increased through the action of steroidogenic enzymes with morphological changes in the adrenal zona reticularis.We investigated longitudinal changes in androgen levels and steroidogenic enzyme activities during early childhood.From a prospective children’s cohort, the Environment and Development of Children (EDC) cohort, 114 boys and 86 girls with available blood samples […]
Diabetes surveillance often requires manual medical chart reviews to confirm status and type. This project aimed to create an electronic health record (EHR)-based procedure for improving surveillance efficiency through automation of case identification.Youth (<20 years old) with potential evidence of diabetes (N = 8,682) were identified from EHRs at three children’s hospitals participating in the […]
Gonadotropin releasing hormone agonists (GnRHa) are standard of care for central precocious puberty (CPP). A 6-month subcutaneous injection has recently been approved by Food and Drug Administration.Determine efficacy, pharmacokinetics and safety of 6-month 45 mg subcutaneous leuprolide acetate for CPP.Phase 3 multicenter, open-label, single-arm study.25 sites in 6 countries.64 GnRHa naive children with CPP (age: […]
The aim of this study was to determine whether presence of the metabolic syndrome in pregnancy associates with child telomere length or child anthropometry (weight, BMI) and BP, measured at 10 years of age.The Screening for Pregnancy Endpoints study (SCOPE) was a multicentre, international prospective cohort of nulliparous pregnant women recruited from Australia, New Zealand, Ireland […]
We aimed to analyse the association between plasma circulating microRNAs (miRNAs) and the immunometabolic profile in children with type 1 diabetes and to identify a composite signature of miRNAs/immunometabolic factors able to predict type 1 diabetes progression.Plasma samples were obtained from children at diagnosis of type 1 diabetes (n = 88) and at 12 (n = 32) and 24 […]
NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may account for 2-6% of idiopathic short stature (ISS).Describe the physical proportions and growth characteristics of an extended family with novel NPR2 mutations including members […]
We characterized linear growth in infants and children with X-linked hypophosphatemia (XLH).Provide linear growth curves for children with XLH from birth to early adolescence.Data from four prior studies of XLH were pooled to construct growth curves. UX023-CL002 was an observational, retrospective chart review. Pre-treatment data were collected from three interventional trials: two phase 2 trials […]
The postoperative period of Cushing disease (CD) is complicated by a phase of adrenal insufficiency (AI). Factors that influence the duration of AI and its prognostic significance for CD recurrence in children have not been extensively studied. We investigated whether clinical or biochemical factors contribute to the duration of AI, and the correlation of the […]
Maternal vitamin D deficiency is associated with glucose and lipid metabolism in the mother and offspring. Meanwhile, it can also lead to adverse pregnancy outcomes. The aim of this case-control study was to document maternal, umbilical arterial glucose and lipid metabolic levels and correlations in pregnancies with or without vitamin D deficiency, while also investigating […]
Children with brain tumors may have pubertal onset at an inappropriately young chronologic age. Hypothalamic-pituitary irradiation ≥18 Gy has been found to be a risk factor; age at irradiation is associated with pubertal timing. However, the underlying mechanisms are unknown.To determine the impact of body mass index (BMI) and catch-up growth on pubertal timing in […]
Recombinant human growth hormone has been used for more than 30 years and its indications have increased worldwide. There is concern that this treatment might increase mortality, but published data are scarce. We present data from the entire dataset of all eight countries of the Safety and Appropriateness of Growth hormone treatments in Europe (SAGhE) […]
Since reports published in 2015 and 2016 identified 15 probable exposure-outcome associations, there has been an increase in studies in humans of exposure to endocrine-disrupting chemicals (EDCs) and a deepened understanding of their effects on human health. In this Series paper, we have reviewed subsequent additions to the literature and identified new exposure-outcome associations with […]
The ability of continuous glucose monitoring (CGM) to improve diabetes outcomes depends upon consistent use. To identify factors that facilitate long-term use of CGM, this study tested the hypothesis that youth involvement in the decision to initiate this therapy would influence subsequent CGM use and that CGM self-efficacy and satisfaction mediate this relationship.Before initiating CGM, […]
Ganglioneuromas are very rare tumors of the sympathetic nervous system. Clinical and pathological knowledge is currently based on largely incomparable registries and case series that focus on pediatric or adrenal cases. To comprehensively characterize the full clinical spectrum across ages and locations, a meta-analysis was performed where amenable and complemented by systematic literature review of […]
The purpose is to find the gut microbial fingerprinting of pediatric patients with type 1 diabetes.The microbiome of 31 children with type 1 diabetes at onset and of 25 healthy children was determined using multiple polymorphic region of the 16S rRNA. We performed machine learning analyses and metagenome functional analysis in order to identify significant […]
The effectiveness of saliva iodine concentration (SIC) in evaluating children’s iodine status is not clear.We aimed to explore associations between SIC and assessed indicators of iodine status and thyroid function.Cross-sectional study.Primary schools in Shandong, China.Local children aged 8-13 with no known thyroid disease were recruited to this study.Blood, saliva, and urine samples were collected to […]
In a significant proportion of children born small-for-gestational age (SGA) with failure of catch-up growth, the etiology of short stature remains unclear after routine diagnostic work-up. We wanted to investigate if extensive analysis of the (epi)genome can unravel the cause of growth failure in a significant portion of these children.Twenty SGA children treated with growth […]
Saliva is an ideal medium in which to measure cortisol in children. However, there are very few data reporting salivary cortisol or cortisone concentrations in healthy children since the introduction of liquid chromatography mass spectrometry (LC MS/MS) to routine laboratory practice.Early morning serum cortisol, salivary cortisol and cortisone were measured on fasting samples, and salivary […]
Central precocious puberty (CPP) has been associated with loss-of-function mutations in two paternally expressed genes (MKRN3 and DLK1). Rare defects in the DLk1 were also associated with poor metabolic phenotype at adulthood.Our aim was to investigate genetic and biochemical aspects of DLK1 in a Spanish cohort of children with CPP without MKRN3 mutations.A large cohort […]
We evaluated sequelae of disease and therapy in adolescents with chronic endocrinopathies using a medical and psychological work-up to record Health related Quality of Life (HRQoL), near final heights (NFH), and body compositions during the transition period from paediatric to adult care.NFH, weight, body mass index (BMI), grip strength (GS), hip and waist circumference (HC; […]
Human enteroviral infections are suggested to be associated with type 1 diabetes. However, the mechanism by which enteroviruses can trigger disease remains unknown. The present study aims to investigate the impact of enterovirus on autophagy, a cellular process that regulates beta cell homeostasis, using the clonal beta cell line INS(832/13) and human islet cells as […]
Gestational diabetes mellitus has been associated with offspring cardiac congenital malformations, ventricular hypertrophy, and diastolic dysfunction in large observational cohort studies and experimental animal models. We assessed the associations of maternal random glucose concentrations across the full range with childhood cardiac ventricular structure and function.In a population-based prospective cohort among 1,959 women and their offspring, […]
The global pandemic of coronavirus (COVID-19) affects almost all countries in the world, which potentially alter diabetes management. Many diabetes patients are experiencing barrier of care due to the policy related to COVID-19. This article aims to review the current evidence on diabetes management and specific considerations during the COVID-19 pandemic for people living with […]
On the 10th of March, Greece imposed the closure of schools and universities and a full lockdown a few days later in order to counter the spread of the coronavirus outbreak. Our aim was to monitor the effect of the coronavirus lockdown in diabetes management in children with Type 1 Diabetes Mellitus (T1DM) wearing insulin […]
The first-appearing β-cell autoantibody has been shown to influence risk of type 1 diabetes (T1D). Here, we assessed the risk of autoantibody spreading to the second-appearing autoantibody and further progression to clinical disease in the Environmental Determinants of Diabetes in the Young study.Eligible children with increased HLA-DR-DQ genetic risk for T1D were followed quarterly from […]
The effects of dietary macronutrients on orexigenic and anorexigenic hormones in children are poorly understood.To explore effects of varying dietary macronutrients on appetite-regulating hormones [acyl ghrelin (AG) and desacyl ghrelin (DAG), glucagon-like peptide 1 (GLP-1), peptide tyrosine tyrosine (PYY), and insulin) in children with PWS and healthy children (HC).Randomized, cross-over experiments compared two test diets [High […]
Aromatase deficiency (AD) caused by cytochrome P450 family 19 subfamily A polypeptide 1 (CYP19A1) variants is characterized by a deficiency in androgen-to-oestrogen conversion.To investigate the clinical characteristics and accurate management of aromatase-deficient children.We described three 46, XX aromatase-deficient children, searched PubMed with “(aromatase deficiency) AND (46, XX OR ovaries)” and manually searched citations in identified […]
Management of Type 1 Diabetes (T1D) poses numerous challenges, especially for young children and their families. Parental care positively influencesthe outcomesofchildren with T1D, while there are often criticisms in school environment. The COVID-19 pandemic has forced children and parents to spend many hours at home and diabetes care has returned mainly in the hands of […]
Immune checkpoint inhibitors (ICIs) perturb T-cell regulatory pathways to enhance antitumor immunity. However, an increase reporting of ICI-associated diabetes is observed in adults. To our knowledge, no cases have been reported in the pediatric population.We describe a pediatric case of ICI-associated type 1 diabetes in a 12-year old Hispanic boy with Hodgkin lymphoma. The patient […]
This study aims to describe differences in health care utilization between homeless and nonhomeless minors with diabetes.Data from the Healthcare Cost and Utilization Project’s Statewide Inpatient Database from New York for years 2009-2014 were examined to identify pediatric patients <18 years old with diabetes. Outcomes of interest included hospitalization rate, in-hospital mortality, admission through the […]
Growth hormone (GH) has been approved for children with Prader-Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DMT2). Continuation of GH maintains body composition, but GH is known to induce insulin resistance, which might affect […]
Low-dose IL-2 (ld-IL2) selectively activates and expands regulatory T cells (Tregs) and thus has the potential to skew the regulatory/effector T (Treg/Teff) cell balance towards improved regulation. We investigated which low doses of IL-2 would more effectively and safely activate Tregs during a 1 year treatment in children with recently diagnosed type 1 diabetes.Dose Finding Study […]
It is unclear whether newborns with mild TSH elevation (mTSHe) are at risk of neurocognitive impairment. We assessed whether mTSHe at birth persists during childhood and compared neurocognitive functioning to siblings.This study encompassed children born in the Auckland region with a newborn screen TSH level 8-14 mIU/L blood, aged 6.9-12.6 years at assessment, and their […]
The Short Synacthen Test (SST) is the gold standard for diagnosing adrenal insufficiency. It requires invasive administration of Synacthen, venous sampling, and is resource-intensive.To develop a nasally administered SST, with salivary glucocorticoids measurement, to assess the adrenal response.We conducted 5 studies: 4 open-label, sequence-randomized, crossover, pharmacodynamic studies testing 6 doses/formulations and a repeatability study. Additionally, […]
To examine the effect of Antenatal corticosteroids (ANS) on the maturation of thyroid function in the preterm infants.ANS reduce mortality and morbidities in preterm neonates. Organ maturation by the glucocorticoids is the key, at least in part. However, the effect of ANS on thyroid are controversial.A study group of 99 very low birthweight neonates (<34 […]
Corticosteroids are widely used in pediatric cardiac surgery to blunt systemic inflammatory response and to reduce complications; nevertheless, their clinical efficacy is uncertain.To determine whether intraoperative administration of dexamethasone is more effective than placebo for reducing major complications and mortality during pediatric cardiac surgery.The Intraoperative Dexamethasone in Pediatric Cardiac Surgery was an investigator-initiated, double-blind, multicenter […]
Nonalcoholic fatty liver disease (NAFLD) is the most common cause of liver disease, affecting approximately 3 in 10 obese children worldwide.We aimed to investigate the potential relationship between gut microbiota and NAFLD in obese youth, while considering the role of PNPLA3 rs738409, a strong genetic contributor to NAFLD.In this cross-sectional study, participants completed abdominal MRI […]
The ultradistal (UD) radius is rich in trabecular bone and is easily measured by dual energy X-ray absorptiometry (DXA). UD radius areal bone mineral density (aBMD) may help identify trabecular bone deficits, but reference data are needed for research and clinical interpretation of this measure.We developed age-, sex-, and population ancestry-specific reference ranges for UD […]
Pediatric differentiated thyroid cancer (DTC) differs from adult DTC in its underlying genetics and clinicopathological features. In this report, we studied these aspects in 48 cases of pediatric DTC.We used the comprehensive Oncomine Childhood Cancer Gene panel on Ion Torrent next generation sequencing platform. We included 48 patients (37 females and 11 males) with pediatric […]
Maternal overweight and obesity might increase risks of adiposity and cardiovascular and metabolic diseases in offspring. We examined associations between maternal overweight and obesity severity and risk of cardiovascular diseases in young offspring.In this population-based cohort study, we used data from live singleton births recorded in the Swedish Medical Birth Register. We calculated maternal BMI […]
This paper presents the relationship between islet autoantibodies, precursors of type 1 diabetes, and the development of persistent asthma, allergic rhinitis and atopic eczema.A total of 2159 newborns who had a first-degree relative with type 1 diabetes and selected HLA genotypes were followed until the youngest participant reached 10 years of age. Islet cell antibodies (ICA) […]
Type 1 and type 2 diabetes are among the most prevalent chronic diseases in women in the fertile years and women with diabetes may experience several reproductive issues. We aimed to examine the chance of biochemical pregnancy, clinical pregnancy and live birth after assisted reproductive technology (ART) treatment in women with type 1 and type […]
Kabuki syndrome (KS), caused by pathogenic variants in KMT2D or KDM6A, is associated with hyperinsulinemic hypoglycemia (HH) in 0.3-4% of patients. We characterized the clinical, biochemical and molecular data of children with KS and HH compared to children with KS without HH in a multicenter meta-analysis.Data of seven new and 17 already published children with […]
Spontaneous pregnancies and live births are rarely reported after hematopoietic stem cell transplant (HSCT). We report spontaneous pregnancy outcomes of sexually active female survivors of childhood allogeneic HSCT, to provide more data for future counselling.Retrospective review of all female survivors of childhood hematological malignancies who had allogeneic HSCT at the Royal Children Hospital between 1985 […]
The knowledge of normal variation of reproductive hormones, internal genitalia imaging and the prevalence of gynecological disorders in adolescent girls is limited.The study aimed to describe reproductive parameters in post-menarcheal girls from the general population including the frequency of oligomenorrhea, PCOS and use of hormonal contraception.The Copenhagen Mother-Child Cohort is a population-based longitudinal birth cohort […]
We aim to investigate the impact of ideal cardiovascular health metrics (ICVHMs) on the association between famine exposure and adulthood diabetes risk.This study included 77,925 participants from the China Cardiometabolic Disease and Cancer Cohort (4C) Study who were born around the time of the Chinese Great Famine and free of diabetes at baseline. They were […]
We evaluated the response to the thyrotropin-releasing hormone (TRH) stimulation test in very low birth weight (VLBW) infants to elucidate the etiology of transient hypothyroxinemia of prematurity (THOP).We performed TRH stimulation tests on 43 VLBW infants. Subjects were divided into two groups; a THOP group (N=11; basal TSH < 15 mU/L and basal FT4 ≤ […]
Children born prematurely have been treated with growth hormone (GH), and a significant improvement in height during the first years of treatment has been described.To evaluate the influence of prematurity on near-adult height (NAH) after GH treatment.KIGS (Pfizer International Growth Database) was queried for children born preterm treated with GH.KIGS database.A total of 586 children […]
The contribution of blood extracellular vesicular (EV) programmed death-ligand 1 (PD-L1) and programmed death-1 (PD-1) in papillary thyroid cancer (PTC) is uncertain.We sought to determine the relationship of EV PD-L1/PD-1 with the clinical features of pediatric PTC and the role of EV PD-L1 in immunosuppression.Plasma levels of EV and soluble PD-L1 and PD-1 and levels […]
Consensus regarding diagnosis and management of osteoporosis in premenopausal women (PW) is still lacking, due to few studies carried out in this population.ECTS and IOF convened a working group to produce an updated review of literature published after 2017 on this topic.Fragility fractures in PW are rare and mostly due to secondary osteoporosis, i.e. in […]
Multiple endocrine neoplasia type 2B (MEN2B) is a rare cancer predisposition syndrome resulting from an autosomal-dominant germline mutation of the RET proto-oncogene. No prior studies have investigated pulmonary function in patients with MEN2B.This study characterized the pulmonary function of patients with MEN2B.This is a retrospective analysis of pulmonary function tests (PFTs) and chest imaging of […]
Adequate transplacental passage of maternal thyroid hormone is important for normal fetal growth and development. Maternal overt hypothyroidism and hyperthyroidism are associated with low birthweight, but important knowledge gaps remain regarding the effect of subclinical thyroid function test abnormalities on birthweight-both in general and during the late second and third trimester of pregnancy. The aim […]
Excess gestational weight gain (GWG) among women with overweight or obesity synergistically increases their already elevated risk of having gestational diabetes, a caesarean delivery, a large for gestational age infant, and post-partum weight retention, and increases their child’s risk of obesity. We investigated whether a primarily telehealth lifestyle intervention reduced excess GWG among women with […]
During pregnancy, maternal cortisol levels are increased threefold by third trimester. The enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD, isoforms 1 and 2) regulates the balance between cortisol and cortisone levels. Perfluoroalkyl substances (PFAS) have been reported to inhibit 11β-HSD1 and more potently 11β-HSD2, which could lead to reduced levels of cortisol and more extensively cortisone.To investigate a […]
In children born small for gestational age (SGA) with persistent short stature, 2 years of gonadotropin-releasing hormone analogue (GnRHa), in addition to long-term growth hormone (GH) treatment, can improve adult height. We assessed safety on metabolic and bone health of GnRHa/GH treatment during 5 years after cessation of GH.363 young adults born SGA, previously treated […]
A retrospective review of patients referred for genetic testing over a 4 year period for suspected hereditary HPTH was performed. Genetic analysis was performed by next generation sequencing of the following genes; MEN1, CDC73, CASR, CDKN1A, CDKN1B, CDKN2B, CDKN2C, RET, GCM2, GNA11, and AP2S1 in NHS-accredited Regional Genetic laboratories. Aims of this study were to […]
To compare efficacy and safety of insulin glargine 300 units/mL (Gla-300) and 100 units/mL (Gla-100) in children and adolescents (6-17 years old) with type 1 diabetes.EDITION JUNIOR was a noninferiority, international, open-label, two-arm, parallel-group, phase 3b trial. Participants were randomized 1:1 to Gla-300 or Gla-100, titrated to achieve fasting self-monitored plasma glucose levels of 90-130 […]
Maternal antenatal corticosteroid treatment is standard care to accelerate fetal maturation when birth before 34 weeks is imminent. Recently, expansion of the indications beyond 34 gestational weeks has been debated. However, data about long-term outcomes remain limited, especially among infants who after treatment exposure are born at term.To study if antenatal corticosteroid treatment is associated […]
The aim of this work was to examine the associations of average weight and weight velocity in three growth periods from birth through adolescence with type 2 diabetes incidence.Child participants were selected from a 43 year longitudinal study of American Indians to represent three growth periods: pre-adolescence (birth to ~8 years); early adolescence (~8 to ~13 years); and […]
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