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.

• Skeletal Disproportion in Girls with Turner Syndrome and Longitudinal Change with Growth Promoting Therapy.7th January 2021
  Short stature in Turner Syndrome (TS) may be accompanied by skeletal disproportion. This retrospective study investigates growth and disproportion from early childhood to adult height.Data were collected from 59 girls prior to growth hormone (rhGH) treatment and in 30 girls followed-up longitudinally. Standard deviation scores (SDS) for height (Ht), sitting height (SH) and sub-ischial leg […]
• Serum Galectin-3 and Subsequent Risk of Coronary Heart Disease in Subjects With Childhood-Onset Type 1 Diabetes: A Cohort Study.7th January 2021
  To study whether serum galectin-3 and other biomarkers of inflammation predict coronary heart disease (CHD) in subjects with long-standing childhood-onset type 1 diabetes.A population-based nationwide cohort of 299 subjects with type 1 diabetes diagnosed in Norway at <15 years of age during 1973-1982. They were examined in 2002-2003 at a mean age of 33 years […]
• First-appearing islet autoantibodies for type 1 diabetes in young children: maternal life events during pregnancy and the child’s genetic risk.6th January 2021
  Psychological stress has long been considered a possible trigger of type 1 diabetes, although prospective studies examining the link between psychological stress or life events during pregnancy and the child’s type 1 diabetes risk are rare. The objective of this study was to examine the association between life events during pregnancy and first-appearing islet autoantibodies […]
• Long-term efficacy and safety of gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: a systematic review and meta-analysis.2nd January 2021
  To investigate the long-term efficacy and safety of gonadotropin-releasing hormone analog (GnRHa) treatment in children with idiopathic central precocious puberty (CPP) METHOD: The protocol was registered with International Prospective Register of Systematic Reviews (CRD42018102792). PubMed, EMBASE, and the Cochrane Library were searched for eligible comparative and single-arm studies.We identified a total of 98 studies that […]
• Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome.31st December 2020
  Mitchell Riley syndrome (MRS) due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for beta-cell maturation. In contrast to the pathway by which RFX6 mutations leads to diabetes, the mechanisms underlying protracted diarrhea are unknown.To assess whether glucagon-like peptide-1 […]
• Distant metastases from childhood differentiated thyroid carcinoma: clinical course and mutational landscape.31st December 2020
  Distant metastases (DM) from childhood differentiated thyroid carcinoma (DTC) are uncommon and published studies are limited.To describe the outcomes of patients with DM from childhood DTC and to evaluate the molecular landscape of these tumors.Retrospective study at a tertiary cancer center including patients with pediatric DTC (diagnosed at age ≤18 years from 1946-2019) and DM.We […]
• Approach to the virilizing girl at puberty.28th December 2020
  Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth. In girls, androgen levels are low during pregnancy and childhood. A first physiologic rise of adrenal androgens is observed at the […]
• Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?28th December 2020
  Pathogenic germline MAX variants are associated with pheochromocytoma and paraganglioma (PPGL), pituitary neuroendocrine tumors and, possibly, other endocrine and non-endocrine tumors.To report two families with germline MAX variants, pheochromocytomas (PC) and multiple other tumors.Clinical, genetic, immunohistochemical, and functional studies.University Hospitals in Australia.Two families with germline MAX variants.Usual clinical care.Phenotyping; germline and tumor sequencing; immunohistochemistry of […]
• Extended Use of the Control-IQ Closed-Loop Control System in Children With Type 1 Diabetes.23rd December 2020
  To further evaluate the safety and efficacy of the Control-IQ closed-loop control (CLC) system in children with type 1 diabetes.After a 16-week randomized clinical trial (RCT) comparing CLC with sensor-augmented pump (SAP) therapy in 101 children age 6-13 years old with type 1 diabetes, 22 participants in the SAP group initiated use of the CLC […]
• Testing, Monitoring, and Treatment of Thyroid Dysfunction in Pregnancy.22nd December 2020
  Both hyperthyroidism and hypothyroidism can have adverse effects in pregnancy. The most common causes of thyrotoxicosis in pregnancy are gestational transient thyrotoxicosis and Graves’ disease. It is important to distinguish between these entities as treatment options differ. Women of reproductive age diagnosed with Graves’ disease should be counseled regarding the impact of treatment options on […]
• The Effects of Vitamin D Supplementation During Infancy on Growth During the First Two Years of Life.21st December 2020
  The relationship between maternal and infant vitamin D and early childhood growth remains inadequately understood.To investigate how maternal and child 25-hydroxyvitamin D [25(OH)D] and vitamin D supplementation impact growth during the first 2 years of life.A randomized, double-blinded intervention study.A single-center study from pregnancy until offspring age 2 years.Altogether 812 term-born children with complete data, […]
• Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome.21st December 2020
  Thyroid ultrasound screening is recommended in children with PTEN hamartoma tumor syndrome (PHTS) due to increased risk of thyroid neoplasia, but the natural history of thyroid disease in children with PHTS is unclear.Determine the prevalence and natural history of thyroid disease in children with PHTS.Retrospective cohort study (1998-2019).Academic pediatric hospital.Individuals with genetically confirmed PHTS diagnosed […]
• Assessment of medication adherence in children and adults with congenital adrenal hyperplasia and the impact of knowledge and self-management.21st December 2020
  Congenital adrenal hyperplasia (CAH) is caused by a deficiency of one of the enzymes required for cortisol biosynthesis. The disease is classified as either classic (severe phenotype), subdivided into simple-virilizing (SV) and salt-wasting (SW), or non-classic (NC) CAH. The treatment regime involves life-long glucocorticoid replacement, especially in classic phenotype.We aimed to assess medication adherence, endocrine […]
• Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study.21st December 2020
  Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith-Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a […]
• A Randomized Clinical Trial Assessing Continuous Glucose Monitoring (CGM) Use With Standardized Education With or Without a Family Behavioral Intervention Compared With Finger-stick Blood Glucose Monitoring in Very Young Children With Type 1 Diabetes.18th December 2020
  This study evaluated the effects of continuous glucose monitoring (CGM) combined with family behavioral intervention (CGM+FBI) and CGM alone (Standard-CGM) on glycemic outcomes and parental quality of life compared with blood glucose monitoring (BGM) in children ages 2 to <8 years with type 1 diabetes.This was a multicenter (N = 14), 6-month, randomized controlled trial […]
• A Randomized Clinical Trial Assessing Continuous Glucose Monitoring (CGM) Use With Standardized Education With or Without a Family Behavioral Intervention Compared With Finger-stick Blood Glucose Monitoring in Very Young Children With Type 1 Diabetes.18th December 2020
  This study evaluated the effects of continuous glucose monitoring (CGM) combined with family behavioral intervention (CGM+FBI) and CGM alone (Standard-CGM) on glycemic outcomes and parental quality of life compared with blood glucose monitoring (BGM) in children ages 2 to <8 years with type 1 diabetes.This was a multicenter (N = 14), 6-month, randomized controlled trial […]
• Family history of type 2 diabetes and characteristics of children with newly diagnosed type 1 diabetes.17th December 2020
  Shared aetiopathogenetic factors have been proposed in type 1 diabetes and type 2 diabetes and both diseases have been shown to cluster in families. Characteristics related to type 2 diabetes have been described in patients with type 1 diabetes with a positive family history of type 2 diabetes. We wanted to characterise the family history […]
• Optimal Monitoring of Weekly IGF-I Levels During Growth Hormone Therapy With Once-Weekly Somapacitan.14th December 2020
  Somapacitan is a long-acting growth hormone (GH) in development for once-weekly treatment of GH deficiency (GHD). Optimal monitoring of insulin-like growth factor-I (IGF-I) levels must account for weekly IGF-I fluctuations following somapacitan administration.To develop and assess the reliability of linear models for predicting mean and peak IGF-I levels from samples taken on different days after […]
• Parent and Pediatrician Preferences for Type 1 Diabetes Screening in the U.S.11th December 2020
  The purpose of this study was to use a discrete-choice experiment methodology to understand the relative importance of the attributes of screening tests for type 1 diabetes among parents and pediatricians in the U.S.Online surveys presented hypothetical screening test profiles from which respondents chose their preferred test profile. Survey attributes were based on likely screening […]
• Oxytocin in young children with Prader-Willi syndrome: Results of a randomized, double-blind, placebo-controlled, crossover trial investigating 3 months of oxytocin.9th December 2020
  Prader-Willi syndrome (PWS) is characterized by hypothalamic dysfunction, hyperphagia and a typical behavioral phenotype, with characteristics of autism spectrum disorder (ASD) like stubbornness, temper tantrums and compulsivity. It has been suggested that the oxytocin system in patients with PWS is dysfunctional. In ASD, intranasal oxytocin treatment has favorable effects on behavior.To evaluate the effects of […]
• The use of growth hormone therapy in adults with Prader-Willi syndrome: A systematic review.9th December 2020
  Despite clear benefits in the management of children with Prader-Willi syndrome (PWS), the role of growth hormone (GH) in adults is unclear. The aim of this study was to conduct a systematic review to evaluate the effects of GH on body composition, bone health and cardiovascular health in adults with PWS.A systematic computerized literature search […]
• Women’s perceptions of femininity after craniopharyngioma: a qualitative study.9th December 2020
  Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues related to patient intimacy have not yet been addressed. Standardized questionnaires limit the approach to sexuality and the exploration of patient experiences. A qualitative study, which allows […]
• Association of Maternal-Neonatal Steroids with Early Pregnancy Endocrine Disrupting Chemicals and Pregnancy Outcomes.6th December 2020
  Steroids play an important role in fetal development and parturition. Gestational exposures to endocrine disrupting chemicals (EDCs) affect steroidal milieu and pregnancy outcomes, raising the possibility of steroids serving as biomarkers. Most studies have not addressed the impact of EDC mixtures, which are reflective of real life scenarios.Assess the association of maternal and neonatal steroids […]
• Relationship of TSH levels with cardiometabolic risk factors in US youth and reference percentiles for thyroid function.4th December 2020
  Thyroid hormones play an important role in the metabolic homeostasis and higher levels have been associated with cardiometabolic risk.To examine the association of cardiometabolic risk factors with TSH levels in US youth.Cross-sectional study of youth aged 12-18 years without known thyroid abnormalities from five National Health and Nutrition Examination Survey cycles (n=2,818) representing 15.4 million […]
• The Effects of Ivacaftor on Bone Density and Microarchitecture in Children and Adults with Cystic Fibrosis.1st December 2020
  Cystic fibrosis transmembrane conductance (CFTR) dysfunction may play a role in CF-related bone disease (CFBD). Ivacaftor is a CFTR potentiator effective in improving pulmonary and nutritional outcomes in patients with the G551D-CFTR mutation. The effects of ivacaftor on bone health are unknown.To determine the impact of ivacaftor on bone density and microarchitecture in children and […]
• Do the heterozygous carriers of a CYP24A1 mutation display a different biochemical phenotype than wild types?29th November 2020
  Human cytochrome P450 24 subfamily A member 1 (CYP24A1) loss-of-function mutations result in impaired activity of the 24-hydroxylase involved in vitamin D catabolism, thus inducing a vitamin D-dependent hypercalcemia. Homozygotes often present an overt clinical phenotype named Idiopathic Infantile hypercalcemia (IIH), whereas it is debated whether heterozygotes display an abnormal phenotype.To compare the clinical and […]
• Iodine status in UK-An accidental public health triumph gone sour.29th November 2020
  The improvement in iodine status among the UK population from the 1930s onwards has been described as an ‘accidental public health triumph’ despite the lack of any iodine fortification program. However, iodine deficiency in the UK has re-emerged in vulnerable groups and is likely due to a combination of changing farming practices, dietary preferences and […]
• Primary Adrenal Insufficiency in childhood: data from a large nationwide cohort.28th November 2020
  Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition, poorly characterized in children.to describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.the following etiologies were reported: 85% (n=682) Congenital Adrenal Hyperplasia […]
• Early Detection of Abnormal Growth Associated with Juvenile Acquired Hypothyroidism.27th November 2020
  Development of the typical growth phenotype of juvenile acquired hypothyroidism (JHT), the faltering linear growth with increasing weight, has not been thoroughly characterized.To describe longitudinal growth pattern in children developing JHT and investigate how their growth differs from the general population in systematic growth monitoring.Retrospective case-control study.JHT cases from three Finnish University Hospitals and healthy […]
• Clinical Outcomes and Complications of Pituitary Blastoma.25th November 2020
  Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.To describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.Design and Setting: Multi-institutional case series from tertiary pediatric oncology centers.Children with pituitary blastoma.Genetic testing, surgery, oncologic therapy, endocrine support.Survival, long-term morbidities, germline […]
• Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum.25th November 2020
  (Epi)genetic disorders associated with small-for-gestational-age with short stature (SGA-SS) include imprinting disorders (IDs). Silver-Russell syndrome (SRS) is a representative ID in SGA-SS and has heterogenous (epi)genetic causes.To clarify the contribution of IDs to SGA-SS and the molecular and phenotypic spectrum of SRS, we recruited 269 patients with SGA-SS consisting of 103 and 166 patients referred […]
• Hyperglycemia and Adverse Pregnancy Outcome Follow-Up Study: newborn anthropometrics and childhood glucose metabolism.16th November 2020
  We aimed to examine associations of newborn anthropometric measures with childhood glucose metabolism with the hypothesis that greater newborn birthweight, adiposity and cord C-peptide are associated with higher childhood glucose levels and lower insulin sensitivity.Data from the international, multi-ethnic, population-based Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study and the HAPO Follow-Up Study were used. The […]
• Bone Metabolism in Adolescents Undergoing Bariatric Surgery.16th November 2020
  The prevalence of childhood obesity has increased over past decades with a concomitant increase in metabolic and bariatric surgery (MBS). While MBS in adults is associated with bone loss, only a few studies have examined the effect of MBS on the growing skeleton in adolescents.This mini-review summarizes available data on the effects of the most […]
• Cardiovascular health in early adulthood predicts the development of coronary heart disease in individuals with type 1 diabetes: 25 year follow-up from the Pittsburgh Epidemiology of Diabetes Complications study.15th November 2020
  Type 1 diabetes increases CHD risk. We examined the use of the American Heart Association’s cardiovascular health metrics (blood pressure, total cholesterol, glucose/HbA1c, BMI, physical activity, diet, smoking) to predict incidence of CHD among individuals with type 1 diabetes, with the hypothesis that a better American Heart Association health metric profile would be associated with […]
• Characteristics of adrenocortical carcinoma associated with Lynch Syndrome.13th November 2020
  Lynch syndrome (LS) is the most common inherited colorectal and endometrial cancer syndrome, caused by germline mutations in DNA mismatch repair (MMR) genes. It is also characterized by an increased risk of other tumours with lower prevalence, such as adrenal cortical carcinoma (ACC), an endocrine tumour with an incidence of < two cases/million individuals/year. Most […]
• Racial and Ethnic Disparities in Rates of Continuous Glucose Monitor Initiation and Continued Use in Children With Type 1 Diabetes.12th November 2020
  Racial/ethnic disparities in continuous glucose monitor (CGM) use exist among children with type 1 diabetes. It is not known whether differential rates of device initiation or sustained use are the cause of this disparity. Our objective was to compare CGM initiation rates and continued use among non-Hispanic White (NHW), non-Hispanic Black (NHB), and Hispanic children.We […]
• Predictors Vertebral Deformity In Long-Term Survivors Of Childhood Acute Lymphoblastic Leukemia: The Petale Study.5th November 2020
  The prevalence of vertebral deformities in long-term survivors of childhood ALL is unknown. Our objectives were to identify the prevalence of vertebral deformities and their risk factors among long-term childhood ALL survivors.We recruited 245 (49% male) long-term childhood ALL survivors from the PETALE Cohort (French-Canadian ALL survivors treated between the years 1987 and 2010 with […]
• Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease.4th November 2020
  Growth hormone deficiency (GHD) is usually treated with recombinant human GH (rhGH), and this has been rarely associated with hip disorders. We analysed the clinical data of patients with congenital GHD receiving rhGH who had associated hip dysplasia or Legg-Calve-Perthes disease (LCPD), with a view to determining whether the hip dysplasia was associated with the […]
• Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.2nd November 2020
  The melanocortin 4 receptor (MC4R), a component of the leptin-melanocortin pathway, plays a part in bodyweight regulation. Severe early-onset obesity can be caused by biallelic variants in genes that affect the MC4R pathway. We report the results from trials of the MC4R agonist setmelanotide in individuals with severe obesity due to either pro-opiomelanocortin (POMC) deficiency […]
• Reproductive and perinatal outcomes in women with congenital adrenal hyperplasia – a population-based cohort study.2nd November 2020
  Reduced fertility has been reported for women with congenital adrenal hyperplasia (CAH), especially for those with the salt-losing form. However, data are sparse on reproductive and perinatal outcomes in these women.To investigate reproductive and perinatal outcomes in women with CAH.Population-based and nationwide study using the National CAH Register, the Total Population Register and the Medical […]
• Brown fat-activating lipokine 12,13-diHOME in human milk is associated with infant adiposity.2nd November 2020
  Little is known about the specific breastmilk components responsible for protective effects on infant obesity. Whether 12,13-diHOME, an oxidized linoleic acid metabolite and activator of brown fat metabolism, is present in human milk, or linked to infant adiposity, is unknown.To examine associations between concentrations of 12,13-diHOME in human milk and infant adiposity.Prospective cohort study between […]
• A survey of the young person’s experience of Graves’ disease and its’ management.31st October 2020
  A suboptimal quality of life (QoL) has been reported in patients with Graves’ disease treated in adult life but long-term QoL in those treated in childhood and adolescence is unclear. We wanted to understand how Graves’ disease and its’ management impacts on the physical, psychological and social wellbeing of young people and their longer-term QoL.Two […]
• Newborn screening for congenital hypothyroidism: the benefit of using differential TSH cutoffs in a two-screen program.30th October 2020
  Analysis of a two-screen program for congenital hypothyroidism (CH) using differential blood TSH (bTSH) cutoffs of 10 mU/L at first screening (all infants) and 5 mU/L at second screening (selected infants).To characterize CH infants identified by the second screening and compare infants with bTSH 5.0-9.9 and ≥10 mU/L on second screening.Maternal and neonatal clinical features […]
• Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.30th October 2020
  The ketogenic diet is associated with progressive skeletal demineralization, hypercalciuria and nephrolithiasis. Acute hypercalcemia has been described as a newly recognized complication of this treatment.To describe the clinical characteristics of acute hypercalcemia in children on the ketogenic diet through analysis of the presentation, response to treatment, and natural history in a large cohort of patients.A […]
• Associations of hair cortisol concentrations with general and organ fat measures in childhood.29th October 2020
  Stress may lead to an adverse body fat distribution from childhood onwards.To examine the associations of hair cortisol concentrations (HCC) at 6 years with general and organ fat measures, risk of overweight and nonalcoholic fatty liver disease (NAFLD) at 10 years and to assess whether these were independent of adiposity measures at 6 years.HCC were […]
• Molecular analysis of the CYP11B2 gene in 62 patients with Hypoaldosteronism due to Aldosterone Synthase Deficiency.24th October 2020
  Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting and failure to thrive. The main causes of this rare autosomal recessive disorder are pathogenic variants of the CYP11B2 gene leading to Aldosterone Synthase Deficiency.To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, […]
• Pituitary incidentalomas in pediatric population: Incidence and characteristics.24th October 2020
  To determine the incidence of pituitary incidentalomas in the pediatric population and among its different age subgroups as well as to identify the characteristics of these lesions. Additionally, we aim to give a perspective on the management and follow-up of these patients.We retrospectively studied MRI of children aged 18 years or below who underwent MRI […]
• Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.24th October 2020
  The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism.To describe main phenotype patterns and their evolution through life DESIGN: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2.Among 1213 patients (1143 index cases), the age of […]
• Association of Maternal Prepregnancy Diabetes and Gestational Diabetes Mellitus With Congenital Anomalies of the Newborn.22nd October 2020
  To examine the association of maternal prepregnancy diabetes, gestational diabetes mellitus (GDM), and 12 subtypes of congenital anomalies of the newborn.We included 29,211,974 live births with maternal age ranging from 18 to 49 years old documented in the National Vital Statistics System in the U.S. from 2011 to 2018. Information on prepregnancy diabetes, GDM, and […]
• Epidemiology of adrenal tumours in Olmsted County, Minnesota, USA: a population-based cohort study.17th October 2020
  Adrenal tumours are commonly encountered in clinical practice, but epidemiological data mainly originate from referral centres. We aimed to determine incidence, prevalence, and rates of malignancy and hormone excess in patients with adrenal tumours in a standardised geographically well defined population.In this retrospective population-based cohort study we assessed the standardised incidence rate of adrenal tumours […]
• Treatment of gestational diabetes mellitus and offspring early childhood growth.15th October 2020
  Gestational diabetes mellitus (GDM) is associated with fetal overgrowth and certain treatments are associated with an increased risk of macrosomia. However, there is limited data about the long-term effect of GDM treatment on childhood growth.Cohort study of 816 women with GDM and their offspring delivered between 2009-2012. Childhood height and weight through age 3 were […]
• 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 […]