A polygenic risk score to predict future adult short stature amongst children.

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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 […]

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Health-related quality of life in patients with early-detected central congenital hypothyroidism.

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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 […]

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Predictors of Bilateral Disease in Pediatric Differentiated Thyroid Cancer.

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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 […]

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Radioactive Iodine Treatment for Children and Young Adults with Thyroid Cancer in South Korea: A Population-Based Study.

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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 […]

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Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

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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 […]

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Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

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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 […]

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Two-year treatment with metformin during puberty does not preserve β-cell function in youth with obesity.

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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 […]

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Prenatal exposure to butyl paraben is associated with fat percentage in 7-year old boys.

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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 […]

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A Pragmatic, Randomized Clinical Trial of Gestational Diabetes Screening.

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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 […]

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Recombinant Human Thyroid-Stimulating Hormone Versus Thyroid Hormone Withdrawal Preparation for Radioiodine Ablation in Differentiated Thyroid Cancer in Children, Adolescents, and Young Adults.

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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 […]

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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.

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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 […]

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Cushing syndrome in a pediatric patient with a KCNJ5 variant and successful treatment with low dose ketoconazole.

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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 […]

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Newborn Adiposity and Cord Blood C-Peptide as Mediators of the Maternal Metabolic Environment and Childhood Adiposity.

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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 […]

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Fat mass accretion from birth to 5 years and metabolic homeostasis in childhood: The Healthy Start Study.

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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 […]

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A high proportion of novel ACAN mutations and their prevalence in a large cohort of Chinese short stature children.

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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 […]

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The association of passive smoking and dyslipidemia among adolescence in Japan: Results from A-CHILD Study.

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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 […]

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Long-term safety of growth hormone treatment in childhood: Two large observational studies NordiNet ® IOS and ANSWER.

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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 […]

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Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.

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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 […]

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Skeletal Disproportion in Girls with Turner Syndrome and Longitudinal Change with Growth Promoting Therapy.

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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 […]

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Serum Galectin-3 and Subsequent Risk of Coronary Heart Disease in Subjects With Childhood-Onset Type 1 Diabetes: A Cohort Study.

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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 […]

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First-appearing islet autoantibodies for type 1 diabetes in young children: maternal life events during pregnancy and the child’s genetic risk.

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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 […]

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Long-term efficacy and safety of gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: a systematic review and meta-analysis.

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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 […]

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Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome.

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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 […]

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Distant metastases from childhood differentiated thyroid carcinoma: clinical course and mutational landscape.

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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 […]

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Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

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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) […]

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Extended Use of the Control-IQ Closed-Loop Control System in Children With Type 1 Diabetes.

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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 […]

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Testing, Monitoring, and Treatment of Thyroid Dysfunction in Pregnancy.

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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 […]

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The Effects of Vitamin D Supplementation During Infancy on Growth During the First Two Years of Life.

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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 […]

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Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome.

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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 […]

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