Increase in the Diagnosis and Severity of Presentation of Pediatric Type 1 and Type 2 Diabetes During the COVID-19 Pandemic
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 24, 2021 Category: Endocrinology Source Type: research

Use of a sodium –glucose cotransporter 2 inhibitor, empagliflozin, in a patient with Rabson-Mendehall Syndrome
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 22, 2021 Category: Endocrinology Source Type: research

Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 17, 2021 Category: Endocrinology Source Type: research

Preliminary Pages
Horm Res Paediatr 2021;94(suppl 2):I –III (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 14, 2021 Category: Endocrinology Source Type: research

Preliminary Pages
Horm Res Paediatr 2021;94:I –V (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 14, 2021 Category: Endocrinology Source Type: research

PES Abstracts
Horm Res Paediatr 2021;94:1 –203 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 14, 2021 Category: Endocrinology Source Type: research

Abstracts
Horm Res Paediatr 2021;94:1 –445 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 14, 2021 Category: Endocrinology Source Type: research

Copy Number Variation Analysis increases the number of Candidate Loci associated with Pediatric Obesity
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 3, 2021 Category: Endocrinology Source Type: research

Utility of Fine-Needle Aspirations to Diagnose Pediatric Thyroid Nodules
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 1, 2021 Category: Endocrinology Source Type: research

Ovotesticular DSD: Genetic background, histological features and clinical management
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 1, 2021 Category: Endocrinology Source Type: research

Stress, Stress Reduction and Obesity in Childhood and Adolescence
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 1, 2021 Category: Endocrinology Source Type: research

Safety, tolerability, pharmacokinetics and pharmacodynamics of macimorelin in children with suspected growth hormone deficiency: An open-label, group comparison, dose escalation trial
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 26, 2021 Category: Endocrinology Source Type: research

Normal mid-gestation fetal ultrasonography cannot reliably exclude severe perinatal hypophosphatasia
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 26, 2021 Category: Endocrinology Source Type: research

The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 23, 2021 Category: Endocrinology Source Type: research

Is Gadolinium Contrast Necessary for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 23, 2021 Category: Endocrinology Source Type: research

A Longitudinal Cohort Study of Precocious Puberty and Autism Spectrum Disorder
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 23, 2021 Category: Endocrinology Source Type: research

Boys but not girls exposed to maternal gestational diabetes mellitus have unfavorable fat distribution
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 13, 2021 Category: Endocrinology Source Type: research

Uncoupling of the Infancy Life History Stage
Background: The life history ofHomo sapiens is unique in having a comparatively short stage of infancy which lasts for 2 –3 years. Infancy is characterized by suckling of breast milk, the development of sensorimotor cognition, the acquisition of language, mini-puberty, deciduous dentition, and almost complete skull growth. Infancy ends with the infancy-childhood growth transition (ICT) and separation from the mother . In modern-day affluent societies, breastfeeding depends on the mother’s decision and may happen at any age, and the characteristic traits of infancy have uncoupled. The data and theory for this co...
Source: Hormone Research in Paediatrics - August 5, 2021 Category: Endocrinology Source Type: research

< b > < i > CYP24A1 < /i > < /b > and < b > < i > SLC34A1 < /i > < /b > Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria
Conclusion: In Canada, pathogenic variants inCYP24A1 appear to manifest with late-onset hypercalciuria and its sequelae. The 25-OH-D3:24,25-(OH)2D3 ratio is an excellent tool for screening for biallelic pathogenic variants inCYP24A1. We confirm that cascade testing is important for these variants.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 28, 2021 Category: Endocrinology Source Type: research

Obesity and metabolic syndrome in the pediatric age
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 26, 2021 Category: Endocrinology Source Type: research

Longitudinal glycaemic profiles during remission in 6q24-related transient neonatal diabetes mellitus
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 26, 2021 Category: Endocrinology Source Type: research

Vascular function and distribution of adiponectin isomers during puberty in children and adolescents with obesity
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 23, 2021 Category: Endocrinology Source Type: research

Non-alcoholic fatty liver disease (NAFLD) in children with obesity: narrative review and research gaps
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 21, 2021 Category: Endocrinology Source Type: research

Pharmacotherapy in Childhood Obesity
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 19, 2021 Category: Endocrinology Source Type: research

Brown adipose tissue in children and its metabolic function
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 16, 2021 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 14, 2021 Category: Endocrinology Source Type: research

Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease: The Natural History of the Condition
In this study, we report the follow-up of height, growth velocity, and skeletal maturation in a 16-year-old female patient with JPD. The patient was treated with cyclic doses of pamidronate starting at 2.5 years of age and with 2 doses of denosumab at the age of 8 years, when pamidronate was paused. In the following years, a sustainable decline in a heightz-score and a stunted pubertal growth spurt; despite appropriate maturation of the epiphyseal plates of the left hand, the proximal right humerus and both femora were observed. Whether this reflects the growth pattern in JPD or might be associated to the antiresorptive tr...
Source: Hormone Research in Paediatrics - July 14, 2021 Category: Endocrinology Source Type: research

The Impact of Stress on Health in Childhood and Adolescence in the Era of the COVID-19 Pandemic
Background: The ongoing pandemic of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is posing many challenges to global health. Efforts from the whole scientific community have shed light on the pathogenetic mechanisms and the clinical features of SARS-CoV-2 infection as well as on potential therapeutic strategies.Summary: The consequences of stress related to social isolation and anxiety generated by the pandemic on mental and physical health are collateral effects that are yet poorly investigated.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 14, 2021 Category: Endocrinology Source Type: research

Growth Hormone and Insulin-Like Growth Factor Dysregulation in Pediatric Chronic Kidney Disease
Poor growth is a common finding in children with chronic kidney disease (CKD) that has been associated with poor long-term outcomes. The etiology of poor growth in this population is multifactorial and includes dysregulation of the growth hormone (GH) and insulin-like growth factor (IGF) axis. In this review, we describe the data on GH resistance or insensitivity and inappropriate levels or reduced bioactivity of IGF proposed as contributing factors of growth impairment in children with CKD. Additionally, we describe the theorized negative effect of metabolic acidosis, another frequent finding in pediatric CKD, on the GH/I...
Source: Hormone Research in Paediatrics - July 13, 2021 Category: Endocrinology Source Type: research

Gonadal Hormone Substitution in People with PWS – an IPWSO Survey
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 13, 2021 Category: Endocrinology Source Type: research

The Impact of Hypo- and Hyperglycemia on Cognition and Brain Development in Young Children with Type 1 Diabetes
Human and experimental animal data suggest both hyperglycemia and hypoglycemia can lead to altered brain structure and neurocognitive function in type 1 diabetes (T1D). Young children with T1D are prone to extreme fluctuations in glucose levels. The overlap of these potential dysglycemic insults to the brain during the time of most active brain and cognitive development may cause cellular and structural injuries that appear to persist into adult life. Brain structure and cognition in persons with T1D are influenced by age of onset, exposure to glycemic extremes such as severe hypoglycemic episodes, history of diabetic keto...
Source: Hormone Research in Paediatrics - July 9, 2021 Category: Endocrinology Source Type: research

Serum Levels of Soluble Receptor for Advanced Glycation End Products Are Reduced in Euthyroid Children with Newly Diagnosed Hashimoto ’s Thyroiditis: A Pilot Study
Conclusions: sRAGE levels were decreased in euthyroid children/adolescents at the onset of HT, suggesting that autoimmunity per se seems to play an important role in such a reduction of sRAGE, irrespective of any functional alteration. Children and adolescents suffering from HT may exhibit increased susceptibility to oxidative damage, even when in euthyroid status.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 8, 2021 Category: Endocrinology Source Type: research

Safety and Effectiveness of Recombinant Human Growth Hormone in Children with Turner Syndrome: Data from the PATRO Children Study
Conclusion: These data suggest that biosimilar rhGH is well tolerated and effective in TS patients managed in real-life clinical practice. Optimization of rhGH dose may contribute to a higher AH.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 7, 2021 Category: Endocrinology Source Type: research

Transforming Education through a Global e-Learning Model for Pediatric Diabetes and Endocrinology
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 30, 2021 Category: Endocrinology Source Type: research

Comparison of estradiol, testostosterone and CYP19 methylation levels between full term and preterm newborns
(Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 30, 2021 Category: Endocrinology Source Type: research

Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone
Conclusion: In this large cohort of SGA patients who had reached their final height, we were able to confirm that growth hormone increases final height in short SGA children. In addition, we identified several factors associated with a better response to growth hormone treatment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 28, 2021 Category: Endocrinology Source Type: research

Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System
Langerhans cell histiocytosis (LCH) is a disorder of the mononuclear phagocyte system that can affect almost any organ and system. The most common central nervous system (CNS) manifestation in LCH is the infiltration of the hypothalamic-pituitary region leading to destruction and neurodegeneration of CNS tissue. The latter causes the most frequent endocrinological manifestation, that is, central diabetes insipidus (CDI), and less often anterior pituitary hormone deficiency (APD). The reported incidence of CDI is estimated between 11.5 and 24% and is considered a risk factor for neurodegenerative disease and APD. Three risk...
Source: Hormone Research in Paediatrics - June 24, 2021 Category: Endocrinology Source Type: research

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review
Conclusions: Our study strengthens the evidence for efficacy of GH therapy in patients with TS from different populations.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 16, 2021 Category: Endocrinology Source Type: research

Associations of Obesity with Linear Growth and Puberty
Background: The prevalence of obesity in childhood has increased dramatically in recent decades with increased risk of developing cardiometabolic and other comorbidities. Childhood adiposity may also influence processes of growth and puberty.Summary: Growth patterns of obesity during childhood have been shown to be associated with increased linear growth in early childhood, leading to accelerated epiphyseal growth plate (EGP) maturation. Several hormones secreted by the adipose tissue may affect linear growth in the context of obesity, both via the growth hormone IGF-1 axis and via a direct effect on the EGP. The observati...
Source: Hormone Research in Paediatrics - June 15, 2021 Category: Endocrinology Source Type: research

A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity
Conclusions: The novelSERPINA7 variant in this patient led to a false suspicion of central hypothyroidism in the Dutch T4-based neonatal screening program. It is important to recognize patients with such TBG defects to prevent unnecessary additional testing and treatment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 14, 2021 Category: Endocrinology Source Type: research

Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the “Toddler Turner” Cohort
Conclusion: Although the ET group was taller throughout, height SDS at NAH was not significantly different between groups due to catch-down growth of ET girls during lapses in GH treatment after the Toddler study and similar long-term GH exposure overall. Early initiation of GH by age 6 years, followed by uninterrupted treatment during childhood, can prevent ongoing growth failure and enable attainment of height within the normal range during childhood, adolescence, and adulthood.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 10, 2021 Category: Endocrinology Source Type: research

Insulin-like Growth Factor 1, but Not Insulin-Like Growth Factor-Binding Protein 3, Predicts Central Precocious Puberty in Girls 6 –8 Years Old: A Retrospective Study
Conclusions: In clinical practice, IGF-1 SDS may be an additional tool for identifying CPP in girls aged 6 to 8 years when baseline clinical and laboratory diagnostic criteria are inconclusive, possibly avoiding more time-consuming and costly procedures.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 7, 2021 Category: Endocrinology Source Type: research

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
We present a critical appraisal of the concept of GHND and the role of 12- or 24-h GH profiles in the selection of children for GH treatment. The mean 24-h GH concentration in healthy children overlaps with that in those with GH deficiency, indicating that the previously proposed cutoff limit (3.0 –3.2 μg/L) is too high. The main advantage of performing a GH profile is that it prevents about 20% of false-positive test results of the GHST, while it also detects a low spontaneous GH secretion in children who would be considered GH sufficient based on a stimulation test. However, due to a con siderable burden for pat...
Source: Hormone Research in Paediatrics - June 4, 2021 Category: Endocrinology Source Type: research

Retraction Statement
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 1, 2021 Category: Endocrinology Source Type: research

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism
Conclusion: Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Conclusions: Patients with CAH had decreased BMD, especially in lumbar spine. Increased androgen exposure seemed to improve, while increased glucocorticoid dose impaired BMD.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Contents Vol. 93, 2020
Horm Res Paediatr 2020;93:I –VIII (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Acknowledgement to the Reviewers
Horm Res Paediatr 2020;93:657 –658 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Measuring Insulin Resistance in Humans
Background: Insulin resistance is a pathophysiological condition associated with diabetes and cardiometabolic diseases that is characterized by a diminished tissue response to insulin action. Our understanding of this complex phenomenon and its role in the pathogenesis of cardiometabolic diseases is rooted in the discovery of insulin, its isolation and purification, and the challenges encountered with its therapeutic use.Summary: In this historical perspective, we explore the evolution of the term “insulin resistance” and demonstrate how advances in insulin and glucose analytics contributed to the recognition a...
Source: Hormone Research in Paediatrics - April 30, 2021 Category: Endocrinology Source Type: research

Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey
The objective of this mixed methods study was to assess screening practices for ND and MH in girls with TS from the perspective of pediatric endocrinologists.Methods: Pediatric Endocrine Society members who provide care for girls with TS were invited to complete an electronic survey on screening practices. Descriptive statistics were used to summarize quantitative results concurrently with thematic analysis of free-text survey responses.Results: A total of 124 surveys were completed (86% attending pediatric endocrinologists, 81% at academic institutions). Overall, 25% of providers reported their patients with TS received b...
Source: Hormone Research in Paediatrics - April 29, 2021 Category: Endocrinology Source Type: research