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.

• A polygenic risk score to predict future adult short stature amongst children.31st March 2021
  Adult height is highly heritable, yet no genetic predictor has demonstrated clinical utility compared to mid-parental height.To develop a polygenic risk score for adult height and evaluate its clinical utility.A polygenic risk score was constructed based on meta-analysis of genome-wide association studies and evaluated on the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort.Participants […]
• Health-related quality of life in patients with early-detected central congenital hypothyroidism.29th March 2021
  Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone deficiencies (MPHD), but in some cases central CH is isolated. Most pituitary hormone deficiencies are associated with impaired health-related quality of life (HRQoL). However, studies on HRQoL in central CH are lacking.to evaluate HRQoL and fatigue […]
• Predictors of Bilateral Disease in Pediatric Differentiated Thyroid Cancer.29th March 2021
  Total thyroidectomy is recommended for children with papillary thyroid carcinoma, partly because of a high prevalence of bilateral disease. Identifying characteristics that predict bilateral disease might identify candidates for more limited surgery.Investigate associations of preoperative or histopathological characteristics with bilateral disease in children with differentiated thyroid cancer.Retrospective cohort study (1998-2020).Two academic hospitals.Patients <19 years who […]
• Radioactive Iodine Treatment for Children and Young Adults with Thyroid Cancer in South Korea: A Population-Based Study.23rd March 2021
  This study investigated radioactive iodine treatment (RAIT) patterns and the secondary cancer incidence among child and young adult patients receiving RAIT after thyroidectomy for thyroid cancer.This population-based cohort study used the Health Insurance Review and Assessment database of South Korea to identify a total of 18,617 child and young adult patients (0-29 years) who underwent […]
• Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.21st March 2021
  Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGL). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL.This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4-19). The median time of follow-up was 145 months. The genetic investigation […]
• Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.17th March 2021
  Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the proportion of patients that receive a genetic diagnosis.We conducted […]
• Two-year treatment with metformin during puberty does not preserve β-cell function in youth with obesity.17th March 2021
  Youth-onset type 2 diabetes is a disease of pubertal onset, associated with additional burden of pubertal insulin resistance on the β-cell.Evaluate the impact of metformin treatment during puberty, a critical window of cardiometabolic change, on insulin sensitivity (Si) and compensatory β-cell response in youth with obesity.Pediatric academic hospital clinical translational research center.Healthy youth in early […]
• Prenatal exposure to butyl paraben is associated with fat percentage in 7-year old boys.15th March 2021
  Parabens are used as preservatives in consumer products but are suspected of having endocrine-disrupting properties. A recent study reported an association between in utero exposure to butyl paraben and overweight in childhood, with a stronger trend in girls.We therefore studied the association between parabens in maternal urine in third trimester and fat percentage in children […]
• A Pragmatic, Randomized Clinical Trial of Gestational Diabetes Screening.11th March 2021
  Gestational diabetes mellitus is common and is associated with an increased risk of adverse maternal and perinatal outcomes. Although experts recommend universal screening for gestational diabetes, consensus is lacking about which of two recommended screening approaches should be used.We performed a pragmatic, randomized trial comparing one-step screening (i.e., a glucose-tolerance test in which the blood […]
• Recombinant Human Thyroid-Stimulating Hormone Versus Thyroid Hormone Withdrawal Preparation for Radioiodine Ablation in Differentiated Thyroid Cancer in Children, Adolescents, and Young Adults.11th March 2021
  Recombinant human TSH (rhTSH) is commonly used to prepare patients for postoperative radioiodine (I-131) ablation after surgery for differentiated thyroid cancer (DTC). In adults, rhTSH is associated with equivalent oncologic efficacy in comparison to thyroid hormone withdrawal (THW), but its use has not been well-studied in children. We aimed to measure time to disease progression […]
• Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET.3rd March 2021
  Insulin delivery methods, glucose-monitoring modalities, and related outcomes were examined in a large, international, diverse cohort of children and adolescents with type 1 diabetes from the Better Control in Pediatric and Adolescent Diabetes: Working to Create Centers of Reference (SWEET) -Registry.Participants with type 1 diabetes of ≥1 year, aged ≤18 years, and who had documented […]
• Cushing syndrome in a pediatric patient with a KCNJ5 variant and successful treatment with low dose ketoconazole.25th February 2021
  Pathogenic variants in KCNJ5, encoding the GIRK4 (Kir3.4) potassium channel, have been implicated in the pahogenesis of familial hyperaldosteronism (FH) type-III (FH-III) and sporadic primary hyperaldosteronism (PA). In addition to aldosterone, glucocorticoids (GCs) are often found in PA in association with KCNJ5 pathogenic variants, albeit at subclinical levels. However, to date no GIRK4 defects have […]
• Newborn Adiposity and Cord Blood C-Peptide as Mediators of the Maternal Metabolic Environment and Childhood Adiposity.23rd February 2021
  Excessive childhood adiposity is a risk factor for adverse metabolic health. The objective was to investigate associations of newborn body composition and cord C-peptide with childhood anthropometrics and explore whether these newborn measures mediate associations of maternal midpregnancy glucose and BMI with childhood adiposity.Data on mother/offspring pairs (N = 4,832) from the epidemiological Hyperglycemia and […]
• Fat mass accretion from birth to 5 years and metabolic homeostasis in childhood: The Healthy Start Study.22nd February 2021
  It is unclear how fat mass accretion in early life is related to glucose-insulin homeostasis.Examine associations of fat and fat-free mass accretion from birth to early childhood with glucose-insulin homeostasis in early childhood in a multi-ethnic cohort.Observational Healthy Start study with data collection from 2010-2020. Air displacement plethysmography at birth and 4.8 (SD 0.7) years […]
• A high proportion of novel ACAN mutations and their prevalence in a large cohort of Chinese short stature children.19th February 2021
  Aggrecan, encoded by ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated.We sought to determine the prevalence of ACAN pathogenic variants […]
• The association of passive smoking and dyslipidemia among adolescence in Japan: Results from A-CHILD Study.17th February 2021
  Passive smoking in childhood has been reported to be associated with dyslipidemia in Western countries. However, this association in Asian countries remains unclear. Further, no study has investigated the sex difference of the association. This study aimed to elucidate the association between passive smoking and dyslipidemia in boys and girls during adolescence in Japan.We used […]
• Long-term safety of growth hormone treatment in childhood: Two large observational studies NordiNet ® IOS and ANSWER.11th February 2021
  GH treatment has a generally good safety profile; however, concerns of increased mortality risk in adulthood have been raised.Assessing the long-term safety of GH treatment in clinical practice.Two multicenter longitudinal observational studies: NordiNet® International Outcome Study (2006-2016, Europe) and ANSWER Program (2002-2016, USA).Data collected from 676 clinics.Pediatric patients treated with GH, classified into three risk […]
• Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.1st February 2021
  Multisystem inflammatory syndrome in children (MIS-C) is the most severe pediatric disease associated with severe acute respiratory syndrome coronavirus 2 infection, potentially life-threatening, but the optimal therapeutic strategy remains unknown.To compare intravenous immunoglobulins (IVIG) plus methylprednisolone vs IVIG alone as initial therapy in MIS-C.Retrospective cohort study drawn from a national surveillance system with propensity score-matched […]
• 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 […]
• 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 […]
• 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 […]
• 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 […]