Adrenals

Evidence based medicine in paediatric endocrinology

Global health for the paediatric endocrinologist

Type 2 diabetes, metabolic syndrome and lipids

The year in science & medicine

Thyroid

Oncology and chronic Disease

Reproductive endocrinology

Bone, growth plate and mineral metabolism

Editor's Choice

Tracing the Glucocorticoid Receptor evolutionary pedigree: insights from a comprehensive phylogenetic analysis of the full NR super-family

Glucocorticoid deficiency due to disruption of mitochondrial steroidogenesis leads to dysregulation of antioxidant pathways and nucleotide biosynthesis

Impaired cardiac function in a mouse model of Generalized Glucocorticoid Resistance

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

A novel animal model to study 21-hydroxylase deficiency in vivo

Paediatric patients with congenital adrenal hyperplasia have unfavorable changes in their cardiovascular risk profile

The recovery of adrenal function in children with chronic asthma assessed by Low Dose Short Synacthen Test (LDSST)

Adrenal dysfunction in HIV-exposed uninfected infants receiving ritonavir-boosted lopinavir, an HIV protease inhibitor, for the prevention of breastfeeding HIV transmission. An ANRS 12174 substudy.

DNA methylation of HSD3B2, NUR77 and RARβ promoter genes is not involved in functional differentiation of human androgen-producing adrenocortical cells

Transcriptomic Analysis in Healthy Subjects with Differences in Tissue Sensitivity to Glucocorticoids Identifies Novel Disease-associated Genes

Steroidogenesis in the human fetal adrenals at the end of the first trimester

Identification of novel central nervous system imaging biomarkers associated with cognitive abnormalities in patients with congenital adrenal hyperplasia

AAV gene therapy of 21-hydroxylase deficiency (21OHD) in Cyp21-/- mice

A novel syndrome of IUGR, congenital adrenal and gonadal insufficiency, severe infections, thrombocytopenia and monosomy 7 is caused by SAMD9 mutations

25-OH-Vitamin D status in a paediatric population of subjects affected by Prader-Willi Syndrome compared to matched obese controls

Duration of exclusive breastfeeding: ‘Game changer’ in a sex-specific association between cord vitamin D status and infant linear growth.

Cord vitamin D is inversely associated with systolic and diastolic blood pressure in 3-year-old girls, but not in boys.

Results of orthopaedic surgery in children with X-linked hypophosphatemic rickets (XLHR)

Growth Patterns And Fractures In Boys With Duchenne Muscular Dystrophy: Insights From Over 800 Boys In The UK North Star Cohort

Combining COLD and MAMA-PCR real time taqman tecniques to detect and quantify the R201 GNAS mutation causing McCune-Albright Syndrome

Effect of paternal loss-of-function mutations of GNAS on growth during the childhood: a role for XL.

Final heights and BMI in patients affected with different types of pseudohypoparathyroidism

Characterization of GNAS miRNAs targets: trying to better understand the pathophysiology of pseudohypoparathyroidism 1B (PHP1B)

From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signaling Disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

The impact of intragastric balloon placement suppported by a lifestyle intervention programme on cortical and trabecular microstructure and strength in severely obese adolescents

In vitro evidence that growth plate chondrocytes differentiate into perichondrial cells.

Determination of the Minimal Clinically Important Difference in the Six-Minute Walk Test for Patients with Hypophosphatasia

Effect of KRN23, a Fully Human Anti-FGF23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (XLH): 40-week Interim Results from a Randomized, Open-label Phase 2 Study

Endocrinopathy in Childhood Intracranial Germ Cell Tumours is Predicted by Disease Location not Treatment: 30 Year Experience From a Single Tertiary Centre

Subfertility After Chemotherapy in PNET tumours: 34 Year Experience From a Single Centre (1980-2013)

Unraveling the Link Between Optic Nerve Hypoplasia and Pituitary Hormone Dysfunction

Children and adolescents with severe TBI can develop late pituitary dysfunction independently of the results of the first pituitary evaluation.

Prospective dynamic evaluation of hypothalamo-pituitary function in 30 cases of paediatric craniopharyngioma, by hypothalamic injury and treatment; a single centre series.

Priority target conditions of growth-monitoring in children: toward consensus

Pituitary structural abnormalities in idiopathic isolated growth hormone deficiency

Anthropometric and endocrine features in children and adolescents with Type 1 Narcolepsy.

The MAPK effector BRAF is essential for the integrity of hypothalamic-pituitary development and deregulation of this pathway causes congenital hypopituitarism.

Spectrum of LHX4 mutations in a cohort of 510 patients with hypopituitarism

Contribution of GLI2 mutations to pituitary deficits and delineation of the associated phenotypic spectrum

A novel mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) is associated with X-linked hypopituitarism and glucose dysregulation.

Septo-optic dysplasia spectrum: pubertal features of a large cohort of children and adolescents with septo-optic dysplasia, congenital hypopituitarism and optic nerve hypoplasia from a single centre

Pegvisomant is more effective in stunting growth than somatostatin analogs in childhood acromegaly/gigantism.

Adipocytokines delay pubertal maturation of human Sertoli cells

Early growth patterns are associated with alterations in adipocytokine levels and fat distribution measured by DXA in 982 children/adolescents.

Metabolic syndrome markers correlate with gut microbiome activity in children born very preterm

Steroid Metabolomic Signature of Liver Disease in Childhood Obesity

Adipose tissue - a source of hyperandrogenism in obese females?

Prevalence and characterization of retinal alterations in a cohort of overweight and obese children

Contribution of rare CNVs and point mutations to the etiology of severe early-onset obesity

Immune-fat-bone axis in obese children: the role of LIGHT

Expression of type 1 insulin-like growth factor receptor (IGF-1R) in liver of obese children with non-alcoholic fatty liver disease (NAFLD)

The role of apoptotic marker Apo-1/Fas in the metabolism and endothelial function of healthy children

Novel association between the non-synonymous A803G polymorphism of the N-acetyltransferase 2 gene and impaired glucose homeostasis in obese children and adolescents.

The rise and fall of the Swedish childhood obesity epidemic – The BEST cohort

Adiponectin and leptin in children with type 1 diabetes for 3-5 years with or without residual β cell function.

Limits of agreement between HbA1c levels measured in different laboratories following the introduction of the International Federation of Clinical Chemistry and Laboratory Medicine standardised values

Sexual lifestyle among young adults with type 1 diabetes

"Transient" neonatal diabetes in adulthood: Metabolic outcomes

The efficacy of insulin degludec in children and adolescents with type 1 diabetes.

Clinical management of the Mitchell-Riley syndrome due to RFX6 gene mutations: aggressive support results in improved outcome

Early successful hematopoietic cell transplantation (HSCT) in a boy with IPEX syndrome caused by novel c.721T>C FOXP3 mutation

The anti-diabetic drug, metformin, suppresses adipogenesis through both AMP-activated protein kinase (AMPK)-dependent and AMPK-independent mechanisms

Diabetes and insulin injection modalities: Effects on hepatic expression and activity of 11β-hydroxysteroid dehydrogenase type 1 in juvenile diabetic rats.

Glibentek, a new suspension of glibenclamide for patients with neonatal diabetes, is as effective and more convenient than crushed tablets

Persistent beneficial metabolic effect after five years in a cohort of 28 subjects with neonatal diabetes owing to potassium channel mutation and transferred from insulin to sulfonylureas

DPP-4 inhibitor is an alternative effective treatment in a common cause of anti-GAD negative "type 1 Diabetes" - A founder CISD2 mutation

Impact of continuous subcutaneous insulin infusion versus multiple daily injections on bone health in children and adolescents with type 1 diabetes

Pituitary and neuroendocrinology

Growth and growth factors

Antenatal and neonatal endocrinology

Obesity and weight regulation

Type 1 diabetes

RAB3IP and DGCR8 as a potentially pathogenic novel candidate gene involving in growth disorders

Effect of Very Early Growth Hormone (GH) Treatment on Long-term Growth in Girls with Turner Syndrome (TS): A Multicenter, Open-Label, Extension Study

Growth hormone (GH) treatment in skeletal dysplasias – Short-term results in prepubertal children reported in KIGS

Abnormal Videofluoroscopic Swallow Studies (VFSS) in Infants with Prader-Willi Syndrome Indicate a High Rate of Silent Aspiration

Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation

Characteristics of responders and poor-responders to Increlex® therapy – data from children enrolled in the European Increlex® Growth Forum Database (EU-IGFD)

The actual incidence of Small for Gestational Age (SGA) newborns and their catch-up growth is dramatically lower than previously considered.

Ghrelin-reactive autoantibodies are elevated in children with Prader-Willi Syndrome compared to unaffected sibling controls

Whole exome sequencing identifies EPHB4 and PIk3R6 as causes of generalized lymphatic anomaly

Oxytocin improves social and food-related behavior in young children with Prader-Willi Syndrome: A randomized, double-blind, controlled crossover trial

Chromosome 14 imprinted region DLK1/GTL2 disruption: an alternative molecular etiology for Silver-Russell Syndrome

Pathogenic copy number variants are frequently identified in children with short stature of unknown etiology

Social cognition skills and face perception in Turner syndrome (TS)

Tissue engineered collagen based tubular scaffolds for urethral regeneration. A novel technology for the surgical treatment of VSD (Variation of Sex Development) patients with severe hypospadias.

Reference values for external genitalia size and steroid hormone levels in female neonates.

Harmonisation of Serum Dihydrotestosterone Analysis: Establishment of an External Quality Assurance Program

A Mutation in WT1 (Wilms' tumor suppressor 1) associated with 46,XX TDSD

Fertility preservation in an adolescent boy: Inducing puberty and spermatogenesis prior to Bone Marrow transplantation

The hopeful beginnings of fertility preservation in children

Clinical Decision-Making in Disorders of Sex Development (DSD): Physician Recommendations Pre- and Post-Consensus Statement

Premature adrenarche in girls at pubertal onset is associated with high androgens, but lower AMH concentrations

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Serum irisin concentrations in lean adolescents with polycystic ovary syndrome

Estrogen insensitivity due to a novel ESR1 mutation in a consanguineous family from Algeria

Disruption of long-range transcriptional regulation of genes known to be associated with DSD

Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development

Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure

Somavaratan (VRS-317) Treatment of Children with Growth Hormone Deficiency (GHD): Results at 2 Years (NCT02068521)

Pharmacokinetic Modelling predicts native hGH levels following administration of a sustained-release prodrug, TransCon hGH, to children with GHD.

Batch-to-Batch Consistency of a Highly O-Glycosylated Long-Acting Human Growth Hormone (MOD-4023)

A hybrid Fc-fused human growth hormone, GX-H9, shows a potential for weekly and semi-monthly administration in clinical studies

Optimal Sampling of IGF-1 During Weekly Administration of a Long Acting Human Growth Hormone (MOD 4023)

A Six-Month Safety and Efficacy Study of TransCon hGH Compared to Daily hGH in Pre-Pubertal Children with Growth Hormone Deficiency (GHD)

Safety and Tolerability of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-month Complete Dataset Results of a Phase 2 Study in Children with Growth Hormone Deficiency

Efficacy of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-Month Complete Database Results of a Phase 2 Study in Children with Growth Hormone Deficiency

Transcriptomics and Machine Learning Methods Accurately Predict Diagnosis and Severity of Childhood Growth Hormone Deficiency

Whole exome sequencing can identify defects not detected by candidate gene sequencing in patients with short stature and features of growth hormone insensitivity (GHI)

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Genetic Insights from Children with Idiopathic Short Stature in the EPIGROW Study

Longitudinal study on body composition, insulin sensitivity and β-cell function in SGA adults from stop of long-term GH treatment until 5 years after stop

Birth characteristics explain one third of expected deaths in rhGH-treated patients diagnosed with IGHD, ISS & SGA.

Neonatal diabetes due to NKX2.2 mutation – Genotype, clinical phenotype and therapeutic challenges in a very low birth weight diabetic neonate

Missense mutation of GLIS3 gene resulting inneonatal diabetes and congenital hypothyroidism

Molecular analysis of a large cohort of MODY patients by Next Generation Sequencing.

Prevalence of monogenic diabetes in the Lithuanian paediatric and young adult population

Non-mody monogenic diabetes: A very heterogenous and problematic group of diabetes

Emerging pitfalls of etiological diagnosis of diabetes in children and adolescents? Analysis of a French cohort of 310 recent-onset cases

Chronotype and Type 2 Diabetes Risk in Preadolescents

Micro RNAs and Diabetic Nephropathy

Next generation sequencing for the diagnosis of monogenic diabetes in Switzerland

NBAS mutations, a new monogenic cause of DISOPHAL, a new syndrome with Type 1 diabetes (T1D).

Gastrointestinal dysmotility and pancreatic exocrine insufficiency as newly recognised possible features in two siblings with Donohue syndrome

The Protective Effects of Adenovirus-mediated IL-10 Gene and Anti-CD20 Monoclonal Antibody on the Pancreatic β Cells of NOD Mice in the Early Stage of Natural T1D Onset

Evaluation of a novel method to detect residual ß-cell function by dried blood spots in children and adolescents with a recent diagnosis of type 1 diabetes

Circulating angiopoietin-2 levels in young patients with type 1 diabetes mellitus: A link between inflammation, micro-vascular complications and subclinical atherosclerosis

Paternal loss-of-function mutations of GNAS and growth retardation in a mice model: a specific placental transcriptomic signature?

Dysregulation of placental mirna in maternal obesity is associated with pre-and post-natal growth

Vitamin D depletion in pregnancy decreases survival time, oxygen saturation, lung weight and body weight in preterm rat offspring.

Pharmacokinetics of Intravenous Glucagon in Children with Hyperinsulinaemic Hypoglycaemia

Phenotype, Genotype and Short term Outcome in Congenital Hyperinsulinism (CHI)

Increased Islet Cell Neogenesis and Endocrine Cell Differentiation in Congenital Hyperinsulinism in Infancy

Expression of Insulin Receptor Isoforms and Type 1 insulin-like growth factor receptor in the placenta as a function of fetal weight.

Gestational diabetes is associated with changes in placental microbiota and microbiome

CYP11B1 deficiency in very preterms: evidence for an adrenal cortex zone-specific and developmental-dependent maturation

Liver UPR and metabolic consequences in an animal model of intrauterine growth retardation (IUGR)

Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) therapy in Hyperinsulinaemic Hypoglycaemia (HH) and understanding its molecular action via somatostatin receptors by Immunohistochemistry

In utero and postnatal consequences of psychological maternal stress have different effects on longevity: studies in World War 1 orphans.

Effects of developmental bisphenol A exposure on spermatozoal microRNA expression

Developmental programming of somatic growth, behavior and the endocannabinoid system (ECS) by variation of early postnatal nutrition in a cross-fostering mouse model

Central hypothyroidism and biallelic defect near the D/ERY motif of the TRHR gene

The incidence and genetic analysis of Congenital Hypothyroidism in Guangxi, China and the predictors for differentiating permanent and transient congenital hypothyroidism

Germline and somatic DICER1 mutations in familial Papillary Thyroid Carcinoma and Multinodular Goiter.

Thyroid function in monozygotic twins with intra-twin birth-weight-differences

Novel homozygous mutation in the sodium/iodide symporter (NIS) gene highlight by next generation sequencing (NGS) in a patient with congenital hypothyroidism

Falsely TSH and free thyroid hormone measurements in paediatric patients treated with high dose of biotin

Secondary Thyroid cancer among childhood cancer survivors. A single institution experience.

Mutations in TBL1X as a novel cause of familial central hypothyroidism

Overexpression of DYRK1A, Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1

Genetic heterogeneity revealed by WES in a cohort of patients with Brain-Lung-Thyroid syndrome

Decreased proportions of CD4+IL17+/CD4+CD25+CD127- and CD4+IL17+/CD4+CD25+CD127-FoxP3+ T cells in children with autoimmune thyroid diseases.

Paediatric reference values of thyrotropin (TSH) should be personalized according to child characteristics

Too many TFTs? A change in neonatal thyroid function testing in a peripheral hospital in Ireland.

Molecular genetic diagnosis of idiopathic hypogonadotropic hypogonadism by using targeted next-generation sequencing

A novel mutation of KISS1R causing a normosmic isolated hypogonadotropic hypogonadism

Next Generation Sequencing and precocious puberty: a new diagnostic challenge to identify the molecular basis of complex diseases

Molecular screening of MKRN3, DLK1 and KCNK9 genes in central precocious puberty

A novel MKRN3 nonsense mutation causing familial central precocious puberty

Serum antimüllerian hormone and inhibin B as potential markers for progressive central precocious puberty in girls

Prevalence of organic lesions in males with central precocious puberty

Circulating MKRN3 levels decline during puberty in healthy boys

Unknown speaker

Rabconnectin3-α is indispensable for the Activation and Maturation of the GnRH Neuronal Network

LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty.

Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Abnormal corticospinal tract decussation in Kallmann syndrome due to ANOS1 (KAL1) mutations: an explanation of the mirror movements frequently observed in these patients

Pubertal onset in boys is influenced by BMI and genetic variation of FSHB and FSHR: A study in two population-based cohorts of different genetic ancestry

Unknown speaker

Inhibition of teneurin-2 (TENM2) leads to upregulation of UCP1 in human white adipocytes

The use of proteomics in the assessment of health status of offspring born after intracytoplasmic sperm injection (ICSI)

Effects of eating rate on satiety hormones, meal enjoyment and memory for recent eating: An fMRI study

Which amount of BMI-SDS reduction is necessary to improve cardiovascular risk factors in overweight and obese children?

Protective potential of Metformin on membrane linked functions in diabetic aging female rats.

Outcome of Sleeve gastrectomy in the Lebanese adolescent population

Early-onset obesity and hyperphagia associated with defects in the GNAS gene

Measuring subcutaneous adipose tissue using ultrasound in children

Quantitative proteomic of rat livers shows a major reprogramming of mitochondrial enzymes in food-restriction and increased stress hallmarks in ad libitum feeding

Measurement of immunofunctional leptin to detect patients with functional leptin deficiency

Hypothalamic gliosis in obese children and adolescents

Efficacy and safety of duodenal-jejunal bypass liner in morbidly obese adolescents-1 year experience

Effects of AZP-531, a first-in-class unacylated ghrelin analog, on food-related behaviour in Prader-Willi patients: a multi-center, randomized, placebo-controlled study

Treatment for early onset and extreme obesity in two POMC deficient patients: Successful weight loss with the melanocortin-4 receptor agonist setmelanotide

Important contribution of GH, GHRHR and GHSR mutations in isolated growth hormone deficiency with a normal location of the posterior pituitary –Functional characterization of new variants

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Contribution of GHR and IGFALS mutations to growth hormone resistance – Identification of new variants and impact on the inheritance pattern

Genetic diagnosis of congenital growth hormone deficiency by massive parallel sequencing using a target gene panel

Gene Expression Profiling of Children with GH Deficiency (GHD) Prior to Treatment with Recombinant Human Growth Hormone (r-hGH) is Associated with Growth Response Over Five Years of Therapy

Effect of small size at birth, adult body size and growth hormone treatment on telomere length

GH influences plasma fasting adropin concentration in patients with Turner syndrome

ACAN mutations in short children born SGA; growth response during GH treatment with additional GnRHa, and a proposed clinical scoring system.

Clinical characterization of children with autosomal dominant short stature due to aggrecan mutations broadens the phenotypic spectrum

CG methylation at the IGF1 P2 promoter is a major epigenetic determinant of postnatal, not foetal growth.

CG at the methylation IGF1 locus is an epigenetic predictor of GH sensitivity.

Preferential paternal transmission of the T allele for the rs1802710 polymorphism in Dlk1 gene as a pre- and postnatal growth regulator

Preferential transmission of the paternal C allele of the rs9373409 polymorphism in PLAGL1 gene as a regulator of fetal growth and maternal metabolism

In vitro and in vivo evidence for a growth inhibitory role of the transcription factor ZBTB38 throughout pre- and post-natal life