Burosumab resulted in better clinical outcomes than continuation with conventional therapy in both younger (1-4 years-old) and older (5-12 years-old) children with X-linked hypophosphatemia

Does the treatment with recombinant human growth hormone improve final height in patients affected by X-linked hypophosphatemia?

Growth hormone effects on metacarpal bone geometry and bone age in growth hormone-deficient children

Bone mass and fracture prevalence in childhood brain cancer survivors 2, 5 or 7 years after off therapy

Long term effects of treatment with oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS) on bone mineral density in adulthood

Impact of pubertal suppression on body composition and bone mineral density in adolescents with gender dysphoria

Continued improvement in clinical outcomes with burosumab, a fully human anti-FGF23 monoclonal antibody: results from a 3-year, phase 2, clinical trial in children with X-linked hypophosphatemia (XLH)

Benefits of long-term burosumab persist in 11 girls with X-linked hypophosphatemia (XLH) who transitioned into adolescence during the phase 2 CL201 trial

Higher dose of burosumab is needed for treatment of children with severe forms of X linked hypophosphatemia

New imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Age and gender-specific reference data for high-resolution magnetic resonance based musculoskeletal parameters in healthy children and young people

Validation of a new version of BoneXpert bone age in children with congenital adrenal hyperplasia (CAH), precocious puberty (PP), growth hormone deficiency (GHD), Turner syndrome (TS), and other short stature diagnoses

European Registries For Rare Endocrine Conditions (EuRRECa): results from the pilot phase of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Factors affecting loss to follow-up for patients with chronic endocrine conditions during the pediatric period: a cohort study at a reference center for rare diseases

The founder homozygous NR5A1 gene mutation p.R103Q causes asplenia and severe XY-DSD and XX-DSD in a Palestinian cohort

Peripheral glucocorticoid metabolism may reflect resolution of inflammation in Kawasaki disease

Evaluation of endothelial function in childhood standard risk acute lymphoblastic leukemia survivors: role of subclinical markers and identification of preventable factors

Prevalence of endocrine complications in Duchenne muscular dystrophy

Germline-derived gain-of-function variants of Gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis: the first report

CFTR loss-of-function has effects on microRNAs (miRNAs) that regulate genes involved in growth, glucose metabolism and in fertility in in vitro models of cystic fibrosis

Variability in drug metabolizing cytochrome P450 activities caused by human genetic variations in NADPH cytochrome P450 oxidoreductase (POR)

Droplet digital PCR is a useful method for detection of mosaic mutations in patients with McCune–Albright syndrome

Evaluation of endocrine late effects in survivors of childhood allogeneic hematopoietic stem cell transplantation in Australia database from 1985 to 2011

Severe infections contribute to increased risk of early death in patients with apeced

Low prevalence of maternal microchimerism in Japanese children with type 1 diabetes

Gabra5 contributes to sexual dimorphism in POMC neural activity and glucose metabolism

The association between IGF-1 levels and nonalcoholic fatty liver disease (NAFLD) in adolescents with type 2 diabetes

Estimation of MODY frequency and prevalent subtypes in pediatric patients by targeted NGS

Decreased circulating levels of MOTS-c in individuals with newly diagnosed type 1 diabetes children

An oral trace element supplementation has a potential beneficial effect on glucose homeostasis in transfused patients with β-thalassemia major complicated with diabetes mellitus

Insulin resistance leads to mitochondrial dysfunction in hepatocyte

Three new genes (PTPRD, SYT9, and WSF1) related to Korean maturity-onset diabetes in the young (MODY) children decrease insulin synthesis and secretion in human pancreatic beta cells

Next generation sequencing in Greek MODY patients increases diagnostic accuracy and reveals a high percentage of MODY12 cases

ABSTRACT WITHDRAWN

FADES: A birth cohort to understand the mechanisms underlying accelerated onset of autoimmunity in children with Down’s syndrome

A novel biochemical marker, fatty acid-binding protein 4, in diabetic ketoacidosis in children

Hurthle cell carcinoma in childhood retrospective analysis of a large series

Ultrasound features of multinodular goiter in DICER1 syndrome

Experience of thyroid surgery in children with intraoperative neuromonitoring

Thyroid dysfunction in patients following thymus transplantation in a tertiary centre: a 10-year experience

A novel mutation in the thyroglobulin gene leading to neonatal goiter and congenital hypothyroidism in an Eritrean infant

Complex single nucleotide polymorphisms in SEPINA 7 lead to TBG deficiency

Randomised trial of block and replace versus dose titration antithyroid drug treatment in children and adolescents with thyrotoxicosis

Lower proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B cells in children with autoimmune thyroid diseases

Predominant DICER1 mutations in pediatric follicular thyroid carcinomas

Thyroid dysgenesis: exome-wide analysis identifies rare variants in genes involved in thyroid development and cancer

Identification of TRPC4AP as a novel candidate gene causing thyroid dysgenesis

Homozygous loss-of-function mutation in the SLC26A7 gene coding a novel iodide transporter causes goitrous congenital hypothyroidism

Expression of miRNAs in circulating exosomes derived from patients with NAFLD

Circulating exosomal miRNAs in children’s nonalcoholic steatohepatitis and the correlation with serum transaminase and uric acid

Dysregulated gene expression profile in visceral adipose tissue of juvenile Wistar rats with catch-up growth: association with fat expansion and metabolic parameters

The novel phosphatidylinositol-3-kinase (PI3K) inhibitor alpelisib effectively inhibits growth of PTEN haploinsufficient lipoma cells

GDF5 increased white adipose tissue thermogenesis through p38 MAPK signaling pathway in fatty acid-binding protein 4-GDF5 transgenic mice

Appetite suppressing effects of glucoregulatory peptides devoid of nausea

Involvement of visfatin in adipose tissue fibrosis through modulation of extracellular matrix proteins

Characterization of the adipose progenitor cell marker MSCA1 in normal weight and obese children

Circulating growth-and-differentiation factor-15 in early life: relation to prenatal and postnatal size

The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 gene reduces liver damage in obese children

Leptin gene methylation status in Egyptian infants

Brain satiety responses to a meal in children before and after weight management intervention

EFTUD2 gene deficiency disturbs maturation of osteoblast and inhibits chondrocyte differentiation via activated p53 signaling

High levels of LIGHT/TNFSF14 in Prader–Willi syndrome

Increased burden of common risk alleles in children with a significant fracture history

Targeted molecular genetic diagnosis by next generation sequence analysis method and investigation of responsible candidate genes in patients with osteogenesis imperfecta

Evaluating genotype–phenotype correlation using an in vitro mutagenesis model in bi-allelic mutations resulting in extreme hypophosphatasia clinical phenotypes

Genetic aetiology predicts growth hormone (GH) treatment outcomes in children born small-for-gestational-age with persistent short stature (SGA-SS). Lessons from a single-centre cohort

Bone tissue characterization of a mouse model of atypical type VI osteogenesis imperfecta reveals hypermineralization of the bone matrix, elevated osteocyte lacunar density and altered vascularity

Zone wise cell separation methods comparison, based on relative expression of specific growth plate markers in a pig model

Decreased trabecular bone mineral density and muscle area at the forearm despite improvement in glycaemic control over 3 years after simultaneous pancreas kidney transplantation

Metabolically unhealthy obese children and adolescents have higher bone mineral density than normal weighted controls but lower than metabolically healthy obeses: no effect of FGF21 levels

No change in bone density during 6 months off GH in adolescents with severe GHD at near-adult height

Craniosynostosis in inactivating PTH/PTHrP signaling disorder 2: a non-classical feature to consider

Accuracy of glucose sensor estimate of HbA1c in children with type 1 diabetes

β-cell function and glucose effectiveness in the development of impaired fasting glucose in obese European children and adolescents

Osteopontin as an early urinary marker of diabetic nephropathy in adolescents with type 1 diabetes mellitus

Handgrip strength correlates with insulin resistance and the metabolic syndrome in children and adolescents: analysis of the Korean National Health and Nutrition Examination Survey 2014-2016

Dual diagnosis of type 1 diabetes and ADHD

Health-related quality of life and diabetes control in immigrant and Italian children and adolescents with type 1 diabetes and in their parents

Deployment of a predictive model based on CpG methylation haplotypes analysis on the insulin gene promoter, in a cohort of children and adolescents with type 1 diabetes

Copeptin kinetics and its relationship to osmolality during rehydration for diabetic ketoacidosis in children: an observational study

ABSTRACT WITHDRAWN

Metabolic syndrome features in pre-pubertal children born after maternal pre-eclampsia

Is the 1-hour post-load glucose level by 75g oral glucose tolerance test a new risk factor in predicting atherosclerosis?

2017 American Academy of Pediatrics Clinical Practice Guideline: impact on prevalence of arterial hypertension in children and adolescents with type 1 diabetes mellitus

Trade-off between olfactory bulb and eyeball volume in precocious puberty

Investigation of imprinting alterations in MKRN3 and DLK1 in a cohort of girls with central precocious puberty through specific DNA methylation analysis

Central precocious puberty caused by novel mutations in the promoter and 5′-UTR region of the imprinted MKRN3 gene

Evaluation of puberty in patients with Noonan syndrome and mutations in the RAS/MAPK genes

CHD7 mutations in patients with anosmic or normosmic idiopathic hypogonadotropic hypogonadism

Growth, pubertal course and long-term outcome of 46,XY boys born with atypical genitalia and low birthweight

Hypothalamic AgRP neurons drive endurance in food-restricted mice

Analysis of hypothalamic metabolic circuits after normalization of body weight in mice that had been obese due to high fat diet intake

Absence of central adrenal insufficiency in adults with Prader-Willi syndrome

Peripheral and hypothalamic alterations in the insulin like growth factor IGF system in response to high fat diet induced weight gain

LGR4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty

Source and changes in serum level of kisspeptin in female rats at different developmental stages

Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening results

Age-specific reference values for plasma FT4 and TSH concentrations in healthy, term neonates at day three to seven, and 13 to 15 of life

Neonatal screening for congenital hypothyroidism analysis of a large cohort of affected patients 1987 2017 and relationship with perfluoroalkylated substances PFAs in north eastern Italy

Correlation between genotype and phenotype characteristics in children with congenital hyperinsulinism (CHI) in a specialist centre

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

Extra uterine growth restriction (EUGR) in very low birth weight infants: growth recovery and neurodevelopment by the corrected age of 2 years old

Using CRISPR/Cas9 gene editing to study the molecular mechanisms of congenital hyperinsulinism (CHI)

Heterozygous insulin receptor (INSR) mutation associated with neonatal hyperinsulinaemic hypoglycaemia and familial diabetes mellitus

DNA methylation signatures in placenta and umbilical cord: association with maternal obesity

Prenatal environment and genetic background influence urinary steroid excretion in monozygotic twins with intra-twin birth-weight differences

Iodine status of pregnant women and their newborns in the UK – the MABY study

[18F]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism

Contemporary surgical approach in CAH 46XX – results from the I-DSD/I-CAH registries

Cryptorchid boys with abrogated mini-puberty display differentially expressed genes involved in sudden infant death syndrome

Level of uncertainty in diagnostic evaluation of boys with XY disorders of sex development (DSD)

qPCR screening for Xp21.2 copy number variations in patients with elusive aetiology of 46,XY DSD

Variants in NWD1 gene leading to different degrees of gonadal dysgenesis

A mutation in the nucleoporin-107 gene causes aberrant Dpp/BMP signaling and XX gonadal dysgenesis

Investigating the roles of androgens in male reproductive development, maintenance and function by characterisation of androgen and cortisol deficient 11ß-hydroxylase mutant zebrafish lines

The fruit fly, Drosophila melanogaster, as a model to elucidate human differences of sex development (DSD)

Mutations in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Loss-of-function and missense mutations in MYRF are a novel cause of autosomal dominant 46,XY Leydig cell hypoplasia and 46,XY gonadal dysgenesis

Transcriptome analysis of novel Sertoli cell models to highlight potential genes involved in DSD mechanism of disease

Evaluation of basal and GnRH stimulated AMH levels in central precocious puberty peripheral precocious puberty and premature thelarche

National United Kingdom evidence- and consensus-based guidelines for the investigation, treatment and long-term follow-up of paediatric craniopharyngioma

Prevalence and predicting factors of endocrine dysfunction in children with NF1 and optic gliomas

Polycystic ovarian syndrome in adolescents: utilising discovery proteomics and the search to identify novel non-invasive biomarkers

Increased adrenal and testicular androgen concentrations before puberty and in early puberty correlate to adult height outcomes in males with Silver–Russell syndrome

IGF-1 serum concentrations and growth in children with congenital leptin deficiency (CLD) before and after replacement therapy with metreleptin

Final height reduction in transgender adolescent girls: a case series

Phenotypic characterization of a large pediatric cohort of patients with genetic forms of congenital hypopituitarism

A novel minor spliceosome defect associated with growth hormone deficiency GHD and primary ovarian insufficiency POI

A novel genetic aetiology for familial neonatal central diabetes insipidus

Whole exome sequencing in a familial case of adamantinomatous craniopharyngioma revealed two hits affecting Wnt-signaling pathway

Survival, endocrine disorders and quality of life in 135 children with craniopharyngioma after surgical or combined treatment

Pubertal timing in parents is associated with timing of pubertal milestones in offspring of concordant sex – but only inconsistently with milestones in offspring of discordant sex

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Karyotyping of oocytes, granulosa cells and stromal cells in the ovarian tissue from patients with Turner syndrome: a pilot study

Treatment with growth hormone increases Klotho concentration in patients with Turner syndrome

Imprinting defects and copy number variations in short children born small for gestational age

NIPBL is required for postnatal growth and neural development

Cognitive and neuroradiological assessments in Silver Russell patients

Exploring the usefulness of a new type of pubertal height reference based on growth aligned or onset of pubertal growth

Increasing knowledge in IGF1R defects: lessons from 20 new patients.

NPR2 gene mutations were found in 5.4% children with familial short stature

Growth hormone treatment in adults with Prader–Willi syndrome has sustained positive effects on body composition

Integration of transcriptomic and epigenomic data in childhood identifies a subset of individuals born small for gestational age (SGA) with “catch-up” growth who become pre-hypertensive in early adulthood

Integrated analysis of baseline blood transcriptome and genome identifies clusters of Turner syndrome patients with different responses to recombinant human growth hormone

An integrated systems biology analysis of the genome, epigenome and transcriptome identifies a distinct pattern of hypermethylation associated with low childhood growth

Children and adolescents in the United States with congenital adrenal hyperplasia are not at increased risk for attention-deficit/hyperactivity disorder

Development of novel non-invasive strategies for monitoring of treatment control in patients with congenital adrenal hyperplasia

Establishment of reference intervals for hair cortisol in healthy children aged 0-18 years using mass spectrometric analysis

Loss-of-function NNT mutations impair antioxidants mechanisms and decreases cortisol secretion in patients with familial glucocorticoid deficiency

Genetics of familial glucocorticoid deficiency over the decades: phenotypic variability and associated features

Inhibitory effects of curcuminoids on the enzymes from the steroidogenic pathway

Peptide MC2R antagonists as a new potential therapeutic approach for congenital adrenal hyperplasia

Sexual dimorphism in cortisol production and metabolism throughout pubertal development: a longitudinal study

YAP1-HIPPO pathway as a novel prognostic marker and therapeutic target for pediatric patients with adrenocortical tumors (ACT)

Biphasic glucocorticoid rhythm in one-month old infants: reflection of a developing HPA-axis?

SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway

Insights into the role of cortisol in the formation of the Clock/Bmal1 complex and its interaction with dsDNA, via molecular dynamics simulations

Papp-a2 deficiency results in sex-dependent modifications in hypothalamic regulation of energy homeostasis

Deciphering genetic aetiology among children born small-for-gestational-age with persistent short stature (SGA-SS): phenotypic characteristics at diagnosis in a large single-centre cohort

MicroRNAs change and target key regulatory genes involved in longitudinal growth in patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment

GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6Ψ) mutation

Bioactive IGF-I concentration compared to total IGF-I concentration before and after 1 year of high-dose growth hormone in short children born small for gestational age – North European SGA Study (NESGAS)

Growth hormone deficiency (GHD): assessing burden of disease in children and adolescents: the growth hormone deficiency – child impact measure (GHD-CIM)

Inhibition of IGF1R by IGF1R/IR inhibitor OSI906 as a targeted therapy for glioblastoma: in vitro & in vivo studies

Pubertal onset in 1572 girls with short, normal and tall stature: associations to height, serum IGF-I and PAPP-A2 genotypes

Papp-a2 deficiency induces sex-specific changes in hydroxyapatite-(CaOH) crystallinity and the effects of IGF-1 on bone composition in adult mice

Once-weekly TransCon hGH vs. Daily hGH in pediatric growth hormone deficiency: the phase 3 heiGHt trial

Once-weekly somapacitan vs daily growth hormone (Norditropin®) in childhood growth hormone deficiency: One-year results from a randomised phase 2 trial

Effects of 8 years of growth hormone treatment on cognition in children with Prader–Willi syndrome

Preclinical studies of acrodysostosis gene aav therapy in a knock in r368 x prkar1 a mouse model

BMP4 mutations as a novel cause of normosmic hypogonadotropic hypogonadism

Metformin treatment affects ACTH receptor activation and downstream signaling: a potential treatment for ACTH excess disorders and management of hyperandrogenic states

Clinical and genetic characterization of 148 patients with persistent or transient congenital hyperinsulinism: a population-based study in Finns

De novo missense mutation in SP7 in a patient with cranial hyperostosis, long bone fragility, and increased osteoblast number

Absence of puberty and estrogen resistance by estrogen alpha receptor inactivation in two sisters: a mutation for variable phenotypic severity

DLG2 mutations in patients with delayed or absent puberty

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion

The P450 side-chain cleavage isozyme cyp11a2 facilitates interrenal and gonadal steroid hormone biosynthesis in developing and adult zebrafish

Defects in the GnRH neuroendocrine network affect the timing of puberty

Effects of Bifidobacterium animalis subsp. lactis on children with Prader–Willi syndrome: a randomized, double-blind, placebo-controlled, crossover trial

Leptin influences the down-regulation of UCP-1 expression in brown adipose tissue during negative energy balance