Paediatric Endocrinology

Keep up to date with the latest in paediatric endocrinology. Check out the latest articles from leading medical journals in a single view, helping you discover relevant articles quickly and easily.

• Norms for clinical use of CXM, a real-time marker of height velocity.9th October 2020
  Height velocity is difficult to assess because growth is very slow. Current practice of calculating it from measurements taken at several month intervals is insufficient for managing children with growth disorders. We identified a bone growth by-product (Collagen X bioMarker, CXM) in blood that in preliminary analysis in healthy children correlated strongly with conventionally determined […]
• Factors Associated with Decline of C-peptide in a Cohort of Young Children Diagnosed with Type 1 Diabetes.9th October 2020
  Understanding factors involved in the rate of C-peptide decline is needed to tailor therapies for type 1 diabetes (T1D).Evaluate factors associated with rate of C-peptide decline after T1D diagnosis in young children.Observational study.Academic centers.57 participants in The Environmental Determinants of Diabetes in the Young (TEDDY) enrolled at 3 months of age and followed until T1D […]
• Phenotypic variability of patients with PAX8 variants presenting congenital hypothyroidism and eutopic thyroid.8th October 2020
  Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by a total/partial blockage of the biochemical processes of thyroid-hormone synthesis and secretion. PAX8 is essential for thyroid morphogenesis and thyroid hormone synthesis. We aimed to identify PAX8 variants in patients with thyroid dyshormonogenesis and to analyze them with in-vitro functional studies.Patients: Nine pediatric patients […]
• Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.8th October 2020
  Diabetes diagnosed at <6 months of age is usually monogenic. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. We characterised infants diagnosed at <6 months of age without a pathogenic variant to assess whether polygenic type 1 diabetes could arise at early ages.We studied 166 […]
• Association between family history, early growth and the risk of beta cell autoimmunity in children at risk for type 1 diabetes.7th October 2020
  The aim of this work was to examine the relationship between family history of type 1 diabetes, birthweight, growth during the first 2 years and development of multiple beta cell autoantibodies in children with a first-degree relative with type 1 diabetes and HLA-conferred disease susceptibility.In a secondary analysis of the Trial to Reduce IDDM in the […]
• Maternal blood glucose level and offspring glucose-insulin homeostasis: what is the role of offspring adiposity?6th October 2020
  The aim of this work was to investigate the association of maternal HbA1c during mid-pregnancy with biomarkers of glucose-insulin homeostasis during early childhood (4-7 years of age) and to assess whether and how offspring adiposity at birth and at age 4-7 years mediates this relationship among 345 mother-child pairs in the Healthy Start Study.The exposure was maternal […]
• Decreased Incidence of Type 1 Diabetes in Young Finnish Children.1st October 2020
  The incidence of type 1 diabetes has been rising for decades, particularly among young children. Between 2006 and 2011, the incidence rate (IR) reached a plateau in Finland. In this observational, register-based cohort study, we assess recent trends in the disease rate in Finnish children.Based on data from the Finnish Pediatric Diabetes Register, we studied […]
• Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia.30th September 2020
  Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear.Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income (LMIC) and 11 were High Income […]
• Cognitive Function Following Diabetic Ketoacidosis in Children With New-Onset or Previously Diagnosed Type 1 Diabetes.23rd September 2020
  This study assessed whether a single diabetic ketoacidosis (DKA) episode is associated with cognitive declines in children with newly diagnosed type 1 diabetes and whether the same is true in children who had previously been diagnosed after accounting for variations in glycemic control and other relevant factors.We prospectively enrolled 758 children, 6-18 years old, who […]
• Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth promoting therapy in peripubertal growth delays: results of a retrospective study among ENDO-ERN centers.23rd September 2020
  Sex steroids, administered as a priming before GH stimulation tests (GHST) to differentiate between growth hormone deficiency (GHD) and constitutional delay of growth and puberty (CDGP), or as growth-promoting therapy using Low Dose Sex Steroids (LDSS) in CDGP, is much debated. We aimed to compare auxological outcomes of CDGP or GHD children undergoing primed or […]
• Impact of peri-procedural subcutaneous parathyroid hormone on control of hypocalcemia in APS-1/APECED patients undergoing invasive procedures.21st September 2020
  The monogenic disorder autoimmune polyendocrine syndrome type 1 (APS-1) or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifests frequently with hypoparathyroidism, which requires treatment with oral supplementation with calcium and active vitamin D analogs. The majority of APS-1/APECED patients also suffer from intestinal malabsorption, which complicates the management of hypoparathyroidism and may lead to refractory severe hypocalcemia. In […]
• Temporal trends in craniopharyngioma management and long-term endocrine outcomes: a multicentre cross-sectional study.19th September 2020
  The optimal management of craniopharyngiomas remains controversial.To examine temporal trends in the management of craniopharyngioma with a focus on endocrine outcomes.This was a cross-sectional, multicentre study. Patients treated between 1951 and 2015 were identified and divided into four quartiles. Demographics, presentation, treatment and outcomes were collected.In total, 142 patients with childhood onset craniopharyngioma (48/142; 34%) […]
• Effect of Long-Term Glucocorticoid Therapy on Cardiac Functions in Children with Congenital Adrenal Hyperplasia.18th September 2020
  Glucocorticoids play an important role in cardiac physiology. Chronic exposure and higher doses may cause adverse effects on the myocardium, especially in young patients receiving long term therapy.Assess cardiac function in children with congenital adrenal hyperplasia (CAH) and its relation to glucocorticoid dose and therapy duration.Forty-seven patients with CAH due to 21-hydroxylase deficiency were compared […]
• Metformin in women with type 2 diabetes in pregnancy (MiTy): a multicentre, international, randomised, placebo-controlled trial.18th September 2020
  Although metformin is increasingly being used in women with type 2 diabetes during pregnancy, little data exist on the benefits and harms of metformin use on pregnancy outcomes in these women. We aimed to investigate the effects of the addition of metformin to a standard regimen of insulin on neonatal morbidity and mortality in pregnant […]
• A Decade of Disparities in Diabetes Technology Use and HbA1c in Pediatric Type 1 Diabetes: A Transatlantic Comparison.17th September 2020
  As diabetes technology use in youth increases worldwide, inequalities in access may exacerbate disparities in hemoglobin A1c (HbA1c). We hypothesized that an increasing gap in diabetes technology use by socioeconomic status (SES) would be associated with increased HbA1c disparities.Participants aged <18 years with diabetes duration ≥1 year in the Type 1 Diabetes Exchange (T1DX, U.S., […]
• Evaluating the low-dose ACTH stimulation test (LDST) in neonates: Ideal times for cortisol measurement.9th September 2020
  Low-dose adrenocorticotropic hormone stimulation testing (LDST) can be used to diagnose central adrenal insufficiency. However, uncertainty remains over optimal times to draw serum cortisol levels.To determine optimal times to draw serum cortisol levels for the LDST in neonates.A retrospective chart review of LDSTs performed on neonates between January 1, 2009-September 30, 2017.CHEO, a tertiary-care outborn […]
• Association of Prodromal Type 1 Diabetes With School Absenteeism of Danish Schoolchildren: A Population-Based Case-Control Study of 1,338 Newly Diagnosed Children.9th September 2020
  To investigate school absenteeism before the clinical diagnosis of type 1 diabetes in children who develop the disease.This population-based, retrospective case-control study involved all Danish children who developed type 1 diabetes and attended public schools (n = 1,338) from 2010 to 2017. Those children were matched at a 1-to-5 ratio, on the basis of sex […]
• An atlas on risk factors for type 2 diabetes: a wide-angled Mendelian randomisation study.8th September 2020
  The aim of this study was to use Mendelian randomisation (MR) to identify the causal risk factors for type 2 diabetes.We first conducted a review of meta-analyses and review articles to pinpoint possible risk factors for type 2 diabetes. Around 170 possible risk factors were identified of which 97 risk factors with available genetic instrumental […]
• Clinical characteristics and long-term follow-up of patients with diabetes due to PTF1A enhancer mutations.7th September 2020
  Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterised.To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations.Twelve tertiary paediatric endocrine […]
• The clinical consequences of heterogeneity within and between different diabetes types.7th September 2020
  Advances in molecular methods and the ability to share large population-based datasets are uncovering heterogeneity within diabetes types, and some commonalities between types. Within type 1 diabetes, endotypes have been discovered based on demographic (e.g. age at diagnosis, race/ethnicity), genetic, immunological, histopathological, metabolic and/or clinical course characteristics, with implications for disease prediction, prevention, diagnosis and […]
• Clinical characteristics and long-term follow-up of patients with diabetes due to PTF1A enhancer mutations.7th September 2020
  Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterised.To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations.Twelve tertiary paediatric endocrine […]
• The clinical consequences of heterogeneity within and between different diabetes types.7th September 2020
  Advances in molecular methods and the ability to share large population-based datasets are uncovering heterogeneity within diabetes types, and some commonalities between types. Within type 1 diabetes, endotypes have been discovered based on demographic (e.g. age at diagnosis, race/ethnicity), genetic, immunological, histopathological, metabolic and/or clinical course characteristics, with implications for disease prediction, prevention, diagnosis and […]
• A Prospective Study Of Children 0-7 Years With Cah And Adrenal Insufficiency Treated With Hydrocortisone Granules.5th September 2020
  Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require daily hydrocortisone replacement with accurate dosing.Prospective study of efficacy and safety of hydrocortisone granules in children with AI and CAH monitored by 17-OHP saliva profiles.17 children with CAH (9 male) and 1 with hypopituitarism (male) aged from birth to 6 years, had their hydrocortisone […]
• Gut microbiota profile and selected plasma metabolites in type 1 diabetes without and with stratification by albuminuria.5th September 2020
  Abnormal gut microbiota and blood metabolome profiles have been reported both in children and adults with uncomplicated type 1 diabetes as well as in adults with type 1 diabetes and advanced stages of diabetic nephropathy. In this study we aimed to investigate the gut microbiota and a panel of targeted plasma metabolites in individuals with […]
• Dynamics of Islet Autoantibodies During Prospective Follow-Up from Birth up to 15 Years of Age.4th September 2020
  We set out to characterize the dynamics of islet autoantibodies over the first 15 years of life in children carrying genetic susceptibility to type 1 diabetes (T1D). We assessed also systematically the role of zinc transporter 8 autoantibodies (ZnT8A) in this context.HLA-predisposed children (N=1006, 53.0% boys) recruited from the general population in 1994-1997 were observed […]
• Mucosal-associated invariant T cell alterations during the development of human type 1 diabetes.4th September 2020
  Mucosal-associated invariant T (MAIT) cells are innate-like T cells that recognise derivatives of bacterial riboflavin metabolites presented by MHC-Ib-related protein 1 (MR1) molecules and are important effector cells for mucosal immunity. Their development can be influenced by the intestinal microbiome. Since the development of type 1 diabetes has been associated with changes in the gut […]
• Childhood BMI and Fasting Glucose and Insulin Predict Adult Type 2 Diabetes: The International Childhood Cardiovascular Cohort (i3C) Consortium.3rd September 2020
  To examine childhood BMI, fasting glucose, and insulin in relation to incident adult type 2 diabetes mellitus (T2DM).We used data from The International Childhood Cardiovascular Cohort Consortium. Data included childhood (age 3-19 years) measurements obtained during the 1970s-1990s; a health questionnaire, including self-report of adult T2DM (occurrence age, medication use) obtained at mean age 40 […]
• Body composition and bone mineral density in craniopharyngioma patients: a longitudinal study over 10 years.2nd September 2020
  Patients with craniopharyngioma suffer from obesity and impaired bone health. Little is known about longitudinal changes in body composition and bone mineral density (BMD).To describe body composition and BMD (change).Retrospective longitudinal study.Two Dutch/Swedish referral centers.Patients with craniopharyngioma (n=112) with a DXA-scan available [two DXA-scans, n=86; median Δtime 9.6 years (range 0.4-23.3)] at age ≥18 years […]
• Central hypothyroidism improves with age in very young children with Prader-Willi syndrome.2nd September 2020
  Abnormalities in the hypothalamic-pituitary-thyroid (HPT) axis have been implicated in Prader-Willi syndrome (PWS); however, limited information is currently available on age-dependent alterations in the HPT axis. We herein investigated age-dependent differences in thyroid hormone levels in PWS children.Free T4 (FT4), free T3 (FT3), and thyroid-stimulating hormone (TSH) concentrations were retrospectively compared between genetically confirmed PWS […]
• Premature adrenarche in girls is characterized by enhanced 17,20-lyase and 17β-hydroxysteroid dehydrogenase activities.1st September 2020
  Girls with premature adrenarche (PA) may have a higher risk to develop polycystic ovary syndrome (PCOS) and metabolic syndrome. The biological purpose of adrenarche is unknown and the role of novel biosynthetic pathways remains unclear.To compare the urinary steroid metabolome and enzyme activities of girls with PA to age-matched control girls and to published steroid […]
• Vitamin D Supplementation modulates ICOS+ and ICOS- regulatory T cell in siblings of Children with Type 1 Diabetes.27th August 2020
  Vitamin D plays an immunoregulatory activity. The aim of this study was to assess the correlation between blood serum 25(OH)D levels and Th17 and Treg circulating subsets, mainly Treg/ICOS + which seems to have a protective role in autoimmunity, in children with T1D and their healthy siblings (S). The secondary aim was to evaluate the […]
• Sex Hormone Relations to Histologic Severity of Pediatric Nonalcoholic Fatty Liver Disease.26th August 2020
  Sex hormones have been linked with presence and severity of nonalcoholic fatty liver disease (NAFLD) in adults, but it is unknown if they impact severity of pediatric NAFLD.To examine associations of circulating sex hormone binding globulin (SHBG), estrogens, and androgens with key histologic features of pediatric, biopsy-confirmed NAFLD.Baseline assessment of longitudinal cohorts and randomized clinical […]
• Non-alcoholic fatty liver disease and estimated insulin resistance in obese youth: a Mendelian randomization analysis.26th August 2020
  Non-alcoholic fatty liver disease (NAFLD) is associated with insulin resistance (IR) and predicts type 2 diabetes. Currently, it is uncertain whether NAFLD may directly cause IR or vice versa.To test the hypothesis that NAFLD is causally related to IR.We performed a Mendelian Randomization (MR) in 904 obese children/adolescents, using a NAFLD-related genetic risk score (GRS) […]
• Impact of preconception treatment initiation for hypothyroidism on neurocognitive function in children.26th August 2020
  Levothyroxine treatment for hypothyroidism in early pregnancy has inconsistent outcomes.This study evaluated children’s cognitive function to ascertain the impact of preconception maternal hypothyroidism treatment on fetal neurodevelopment.Prospective cohort study.A single-center study conducted at a tertiary-care hospital.Women were assigned to the before conception (BC) and after conception (AC; 8-14 gestational weeks) groups by timepoint of hypothyroidism […]
• Copeptin kinetics and its relationship to osmolality during rehydration for diabetic ketoacidosis in children.25th August 2020
  Copeptin is a surrogate marker for arginine vasopressin (AVP) release in response to hyperosmolal stimuli such as diabetic ketoacidosis (DKA).Characterize kinetics of copeptin and osmolality, and their dynamic relationship during rehydration and insulin therapy in children with type 1 diabetes (T1D) and DKA.Prospective observational multi-centre study.Children with T1D admitted for DKA underwent serial serum copeptin […]
• Reproduction Function in Male Patients with Bardet Biedl Syndrome.25th August 2020
  Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction including genitourinary developmental anomalies as well as impaired reproduction particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (1) genitourinary organogenesis, (2) in the fetal firing of hypothalamo-pituitary axe, (3) […]
• The clinicopathological results of thyroid cancer with BRAFV600E mutation in the young population of Fukushima.23rd August 2020
  Thyroid ultrasound screening for children aged 0-18 years was performed in Fukushima following the accident at the Fukushima Daiichi Nuclear Power Plant. As a result, many thyroid cancer cases were detected. To explore the carcinogenic mechanisms of these cancers, we analyzed their clinicopathological and genetic features.We analyzed 138 cases (52 males and 86 females) who […]
• Gestational diabetes: opportunities for improving maternal and child health.22nd August 2020
  Gestational diabetes, the most common medical disorder in pregnancy, is defined as glucose intolerance resulting in hyperglycaemia that begins or is first diagnosed in pregnancy. Gestational diabetes is associated with increased pregnancy complications and long-term metabolic risks for the woman and the offspring. However, the current diagnostic and management strategies recommended by national and international […]
• A Prospective Longitudinal Assessment of Linear Growth and Adult Height in Female Adolescents with Anorexia Nervosa.21st August 2020
  Growth retardation is an established complication of anorexia nervosa (AN), however findings concerning adult height of AN patients are inconsistent.To assess linear growth and adult height in female adolescents with AN.Prospective observational study.Tertiary University Hospital.All 255 female adolescent AN patients hospitalized in the pediatric psychosomatic department between 1/1/2000- 31/5/2015.Height and weight were assessed at admission […]
• NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose induced ghrelin secretion.21st August 2020
  NKX2-2 is a crucial transcription factor which enables specific beta-cell gene expression. Nkx2-2(-/-) mice manifest with severe neonatal diabetes and changes in beta cell progenitor fate into ghrelin producing cells. In humans, recessive NKX2-2 gene mutations have been recently reported as a novel etiology for neonatal diabetes, with only 3 cases known worldwide. This study […]
• Association of type 1 diabetes and school wellbeing: a population-based cohort study of 436,439 Danish schoolchildren.21st August 2020
  We aimed to examine the association of type 1 diabetes with school wellbeing among Danish children.This is a population-based cohort study involving 436,439 Danish children, of which 1499 had a confirmed diagnosis of type 1 diabetes. The children were enrolled in grade levels 4 to 9 (middle school) in Danish public schools in the years […]
• A 2 year physical activity and dietary intervention attenuates the increase in insulin resistance in a general population of children: the PANIC study.21st August 2020
  We studied for the first time the long-term effects of a combined physical activity and dietary intervention on insulin resistance and fasting plasma glucose in a general population of predominantly normal-weight children.We carried out a 2 year non-randomised controlled trial in a population sample of 504 children aged 6-9 years at baseline. The children were allocated to […]
• Distant metastasis in pediatric and adolescent differentiated thyroid cancer: Clinical outcomes and risk factor analyses.20th August 2020
  The specific characteristics of pediatric and adolescent differentiated thyroid cancer (DTC) is the more frequent occurrence of distant metastasis (DM) compared with adult DTC.To investigate the clinical outcomes of DM in this population and analyze risk factors related to DM.Medical records of 171 patients with DTC &19 years old, who underwent initial surgery between 1979 […]
• The role of hormone stimulation in men with non-obstructive azoospermia undergoing surgical sperm retrieval.19th August 2020
  Non obstructive azoospermia, (NOA) is the most common cause of azoospermia. NOA is characterised by hypergonadotrophic hypogonadism, testicular failure, and impaired spermatogenesis. The recent development of surgical sperm retrieval techniques such as microsurgical testicular sperm extraction (mTESE) has, for the first time, allowed some men with NOA to father biological children. It is common practice […]
• Maternal thyroid dysfunction during pregnancy and the risk of adverse outcomes in the offspring: a systematic review and meta-analysis.19th August 2020
  Previous studies suggested a potential link of maternal thyroid dysfunction with adverse neurocognitive outcomes and impaired development of internal organs in offspring.To review the association between maternal thyroid dysfunction and the risk of adverse outcomes in offspring.PubMed, EMBASE and Cochrane Library.Eligible studies reported the association between maternal thyroid hormone function and the risk of adverse […]
• Management and appropriate use of diazoxide in infants and children with hyperinsulinism.19th August 2020
  The diagnosis of hypoglycemia and the use of diazoxide have risen in the last decade. Diazoxide is the only FDA-approved pharmacologic treatment for neonatal hypoglycemia caused by hyperinsulinism (HI). Recent publications have highlighted that diazoxide has serious adverse effects (AEs) such as pulmonary hypertension (2-3%) and neutropenia (15%). Despite its increasing use, there is little […]
• Endocrine Outcomes In Central Diabetes Insipidus: the Predictive Value of Neuroimaging “Mismatch Pattern”.16th August 2020
  Central diabetes insipidus (CDI) etiology in children is often unknown. Clinical and radiological features at disease onset do not allow to discriminate between idiopathic forms and other conditions, or to predict anterior pituitary dysfunction.To evaluate the evolution of pituitary stalk (PS) thickening and the pattern of contrast enhancement in relation with etiological diagnosis and pituitary […]
• Economic status moderates the association between early-life famine exposure and hyperuricemia in adulthood.14th August 2020
  The double burden of malnutrition (DBM), undernutrition in early life and an obesogenic environment later on, influences later risk of chronic disorders. The Great Famine in China from 1959 to1962 and remarkable economic development from the 1980s provided such a burden for a large number of people in their 60s.We aimed to analyze the effect […]
• Maternal thyroid disease and adiposity in mother and child.13th August 2020
  Thyroid hormones are crucial developmental factors and thyroid disease in pregnant women is a concern. Overweight and obesity are also important health concerns, and we hypothesized that in utero exposure to maternal thyroid disease could program the fetus to development of adiposity.Cohort and case-cohort studies PARTICIPANTS: Pregnant women from the Danish National Birth Cohort and […]
• Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?12th August 2020
  To evaluate whether the diagnosis of pediatric type 1 diabetes or its acute complications changed during the early phase of the coronavirus disease 2019 (COVID-19) pandemic in Italy.This was a cross-sectional, Web-based survey of all Italian pediatric diabetes centers to collect diabetes, diabetic ketoacidosis (DKA), and COVID-19 data in patients presenting with new-onset or established […]
• Bone Mass and Density in Youth With Type 2 Diabetes, Obesity, and Healthy Weight.12th August 2020
  Youth-onset type 2 diabetes is an aggressive condition with increasing incidence. Adults with type 2 diabetes have increased fracture risk despite normal areal bone mineral density (aBMD), but the influence of diabetes on the growing skeleton is unknown. We compared bone health in youth with type 2 diabetes to control patients with obesity or healthy […]
• Increased risk of metabolic dysfunction in children conceived by assisted reproductive technology.7th August 2020
  Assisted reproductive technology (ART) is the most widely used treatment for infertility and has resulted in millions of births worldwide. The safety of the offspring has been of the utmost concern. Previous studies suggested an increase in metabolic disorders in offspring later in life. The aim of the present study was to investigate metabolic changes […]
• Brain white matter lesions are associated with reduced hypothalamic volume and cranial radiotherapy in childhood onset craniopharyngioma.6th August 2020
  White matter lesions (WML) are caused by obstruction of small cerebral vessels associated with stroke risk. Craniopharyngioma (CP) patients suffer from increased cerebrovascular mortality.To investigate the effect of reduced HT volume and cranial radiotherapy (CRT) on WML in childhood onset CP patients.A cross-sectional study of 41 patients (24 women) surgically treated childhood onset CP in […]
• Changes in adrenal androgens and steroidogenic enzyme activities from ages 2, 4, to 6 years: a prospective cohort study.5th August 2020
  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 […]
• Detection of Diabetes Status and Type in Youth Using Electronic Health Records: The SEARCH for Diabetes in Youth Study.2nd August 2020
  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 […]
• Phase 3 trial of a small volume subcutaneous 6-month duration leuprolide acetate treatment for central precocious puberty.2nd August 2020
  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 metabolic syndrome in pregnancy and its association with child telomere length.31st July 2020
  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 […]
• Plasma circulating miR-23~27~24 clusters correlate with the immunometabolic derangement and predict C-peptide loss in children with type 1 diabetes.31st July 2020
  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 […]
• Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.29th July 2020
  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 […]
• Growth Curves for Children with X-linked Hypophosphatemia.29th July 2020
  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 […]