Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome
Conclusions: GH-treated children with NS achieved substantial height gain during the first 3 years of follow-up. Overall, 24 patients achieved NAH, with 70.8% having NAH SDS ≥ –2. There was no evidence to support a higher prevalence of neoplasm, or cardiac or other comorbidities.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 13, 2021 Category: Endocrinology Source Type: research

For Premature Thelarche and Premature Adrenarche, the Case for Waiting before Testing
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 22, 2020 Category: Endocrinology Source Type: research

Diagnostic Value of Serum Acid-Labile Subunit Alone and in combination with IGF-I and IGFBP-3 in the Diagnosis of Growth Hormone Deficiency
Conclusion: Determination of serum ALS alone or in combination with IGF-I and IGFBP-3 did not improve definition of biochemical GHD in a cohort of short children and adolescents with suspected growth disorder. However, performance of IGFBP-3 in this context was not statistically superior to ALS.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 18, 2020 Category: Endocrinology Source Type: research

Age-Related Association of Calcitonin with Parameters of Anthropometry, Bone and Calcium Metabolism during Childhood
Conclusions: Our findings suggest a unique association between CT and Ca in periods of rapid bone growth and point to a possible involvement of CT in promoting bone formation during the first year of life.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 11, 2020 Category: Endocrinology Source Type: research

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance
Discussion: The post-mortem findings described aid understanding of the multiorgan involvement of MAS, providing new insights into possible pathogenetic mechanisms underlying the systemic effects ofGNAS mutations, and highlight a need for systematic surveillance for cerebrovascular changes in craniofacial FD that may be amenable to intervention to avoid catastrophic outcome.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 2, 2020 Category: Endocrinology Source Type: research

Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche
Conclusions: Low birth weight is a predisposing factor for premature adrenal activation. The increase in BMI in patients with idiopathic PP during the 4-years of follow-up was responsible for BA acceleration. We recommend prevention of excessive weight gain in children with PP and strict adherence to follow-up in order to prevent serious metabolic consequences.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 2, 2020 Category: Endocrinology Source Type: research

Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings
Conclusions: To the best of our knowledge, this is the first report of final height in patients with AMDM after long-term GH treatment. Our results confirm the finding of relative GH resistance in AMDM, which when overcome with high-dose GH treatment resulted in improved height SDS during childhood and adolescence and associated quality of life. The final height of our patients was significantly higher than average reported final height (120 cm) of AMDM patients.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 25, 2020 Category: Endocrinology Source Type: research

Clinical Predictors of Transient versus Persistent Neonatal Hyperinsulinism
Conclusion: A higher birth weight in the absence of maternal gestational diabetes is highly associated with a persistent form of HI. Given the marked difference in clinical outcomes between groups, expedited genetic testing should be considered in infants with this presentation to inform clinical management.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 16, 2020 Category: Endocrinology Source Type: research

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to < b > < i > Calcium Sensing Receptor (CaSR) < /i > < /b > Mutation
Conclusion: This case represents the youngest age at cinacalcet initiation and the longest duration without parathyroidectomy in a homozygous NSHPT and demonstrates that cinacalcet is an effective first-line treatment in patients who are responsive to this treatment modality and allows avoiding/delay in surgical intervention in NSHPT.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 4, 2020 Category: Endocrinology Source Type: research

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series
Conclusion: Nutritional rickets remains endemic in the pediatric population and its most severe forms can have life-threatening sequelae. Health practitioners need to be cognizant of these facts to raise awareness and screen high-risk populations.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 29, 2020 Category: Endocrinology Source Type: research

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A & #x3e;G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes
We report on a family presenting with a novel heterozygousIGF1R mutation with characterization of the mutation, IGF1R expression, and immune phenotyping. Twin probands presented clinically with short stature and hypoglycemia. Variable phenotypic expression was seen in 2 other family members carrying theIGF1R mutation. The probands were treated with exogenous growth hormone therapy and dietary cornstarch, improving linear growth and reducing hypoglycemic events.IGF1R c.641-2A#x3e;G caused abnormal mRNA splicing and premature protein termination. Flow cytometric immunophenotyping demonstrated lower IGF1R on peripheral blood ...
Source: Hormone Research in Paediatrics - October 28, 2020 Category: Endocrinology Source Type: research

A Japanese Family with < b > < i > DICER1 < /i > < /b > Syndrome Found in Childhood-Onset Multinodular Goitre
Conclusion: A thyroid nodule was detected in chemotherapy- or radiotherapy-na ïve patient withDICER1 carrier aged 6 years, and MNG developed over 3 years. This pedigree highlights the natural history of nodular disease inDICER1 carriers and identifies a possible association betweenDICER1 and more aggressive malignancies.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 20, 2020 Category: Endocrinology Source Type: research

Adiponectin Signaling and Impaired GTPase Rab5 Expression in Adipocytes of Adolescents with Obesity
Conclusions: In contrast to adults, obesity did not change the expression of AdipoR1 and APPL1 in cultured adipocytes from biopsies of subcutaneous abdominal adipose tissue of children and adolescents. Similar to adipose tissue studies in adults with obesity and metabolic dysfunction, the AO in our study showed reduced adipocyte GTPase Rab5 expression.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 19, 2020 Category: Endocrinology Source Type: research

Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report
We present a 15-year-old female with a personal and family history of congenital strabismus, bilateral cataracts, low-frequency sensorineural hearing loss, and diabetes mellitus. Trio whole exome sequencing revealed a previously unknown maternally inherited heterozygous variant in exon 8 of theWFS1 gene c.2605_2616del12p.Ser869_His872del, leading to the diagnosis of AD WFS1-related disorder. Treatment with a GLP-1 agonist resulted in marked improvement in glycemic control and discontinuation of insulin therapy. This patient ’s response to a GLP-1 agonist provides suggestive indirect evidence for a role of WFS1 on &be...
Source: Hormone Research in Paediatrics - October 19, 2020 Category: Endocrinology Source Type: research

Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion
Conclusion: We present a case of type A-IR, caused by a novelINSR deletion, presenting unusually early with transient neonatal diabetes, followed by episodes of hypoglycemia and hyperglycemia during later childhood. Early life presentations, including neonatal diabetes and PPHH, should lead to consideration of type A-IR.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 9, 2020 Category: Endocrinology Source Type: research

Thyroid Volume and Thyroid Function Parameters Are Independently Associated with Weight Status in Overweight Children
Conclusions: Thyroid volume is positively correlated to weight status in childhood obesity and the change is reversible after weight loss independently of thyroid function parameters and insulin resistance. Further studies are needed to understand why thyroid volume is increased reversibly in overweight children.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 9, 2020 Category: Endocrinology Source Type: research

Treatment of Metabolic Syndrome in Children
Although metabolic syndrome (MetS) in children and adolescents is a frequently discussed topic in the literature, uniform guidelines on its definition and treatment are still lacking. Insulin resistance, central obesity, dyslipidaemia, and hypertension are commonly considered the main components of MetS. The first recommended approach to all these pathological conditions in children and adolescents is lifestyle intervention (diet and physical exercise); however, in some selected cases, a pharmacological or surgical treatment might prove useful for the prevention of metabolic and cardiovascular complications. The aim of thi...
Source: Hormone Research in Paediatrics - October 5, 2020 Category: Endocrinology Source Type: research

Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores
Conclusions: Applying sex- and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 5, 2020 Category: Endocrinology Source Type: research

Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism
Conclusion: Our case supports the previous observations in adults that denosumab can be safely and effectively used as a preoperative treatment in patients with PHPT and severe hypercalcemia and shows that it may be used in pediatric patients.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 30, 2020 Category: Endocrinology Source Type: research

Use of Copeptin Levels to Predict the Resolution of Transient Postoperative SIADH
Conclusion: Copeptin levels in this infant are consistent with levels described in adults and older children. Obtaining copeptin levels may improve providers ’ ability to quickly diagnose and manage SIADH amongst other heterogeneous causes of hyponatremia. Lastly, trending copeptin levels improved providers’ ability to monitor SIADH progression, and may allow preemptive fluid titration for children with bi- or tri-phasic shifts in osmoregulation afte r neurological procedures.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 30, 2020 Category: Endocrinology Source Type: research

Significance of “Time below Range” as a Glycemic Marker Derived from Continuous Glucose Monitoring in Japanese Children and Adolescents with Type 1 Diabetes
Conclusion: We found similar TIR and comparatively higher TBR frequencies, particularly during sleep, than those that were previously reported. Possible reasons for the higher frequency of TBR include differences in the quality of insulin treatment and diabetes care between the present study and the European studies. The utilization of advanced technologies, such as a predictive low-glucose suspend-function pump or closed-loop therapy, can reduce the frequency of TBR, with a consequent increase in TIR frequency and comprehensive improvement in glycemic control.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 18, 2020 Category: Endocrinology Source Type: research

High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in < b > < i > COL1A2 < /i > < /b >
We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 11, 2020 Category: Endocrinology Source Type: research

Improving Malignancy Prediction in AUS/FLUS Pediatric Thyroid Nodules with the Aid of Ultrasound
Conclusion: Although, at baseline, thyroid nodules with a Bethesda III classification carry a moderate risk of malignancy in the pediatric population, TI-RADS scoring can identify nodules with a lower risk within this group. If validated by larger studies, this can inform decision making and reduce unneeded surgery.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - September 7, 2020 Category: Endocrinology Source Type: research

Birth Size as a Determinant of Cardiometabolic Risk Factors in Children
The association between birth size and cardiometabolic disease risk may be U-shaped. Being born small for gestational age (SGA) has a definitive association with later cardiovascular risk, but the impact of being born large for gestational age (LGA) on cardiometabolic health is more controversial. In addition to birth size, early postnatal growth pattern and later weight gain affect cardiometabolic risk in adulthood. Most SGA-born children have catch-up and LGA-born children have catch-down growth during the first years of life. The extent of this early compensatory growth may contribute to the adverse health outcomes. Bot...
Source: Hormone Research in Paediatrics - August 26, 2020 Category: Endocrinology Source Type: research

Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency
Conclusion: Our preliminary data indicate that most brain MRIs performed for routine evaluation of children with IGHD are not essential for determining cause. Further studies with larger cohorts are needed in order to validate this proposed revision of current protocols.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 24, 2020 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 20, 2020 Category: Endocrinology Source Type: research

Safety and Effectiveness of Omnitrope ®, a Biosimilar Recombinant Human Growth Hormone: More Than 10 Years’ Experience from the PATRO Children Study
Conclusions: This analysis of PATRO Children indicates that biosimilar rhGH is well tolerated and effective in real-world clinical practice.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 19, 2020 Category: Endocrinology Source Type: research

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia
Conclusions: The results of this study suggest that AH and GT of NCCAH patients are mainly affected by the severity of phenotype (CA, BA/CA ratio, and H) at the time of diagnosis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 18, 2020 Category: Endocrinology Source Type: research

A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation
Conclusion: IGF-1-SDS is a useful screening tool in the diagnosis of GHD. Although IGFBP-3-SDS lacks sensitivity, its high specificity supports the role to confirm GHD in short children, especially in early childhood. This strategy could simplify and reduce the necessity of a second laborious and expensive GH stimulation test to confirm the diagnosis of GHD.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 14, 2020 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 13, 2020 Category: Endocrinology Source Type: research

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with pote...
Source: Hormone Research in Paediatrics - August 5, 2020 Category: Endocrinology Source Type: research

Catch-Up Growth in Children Born Small for Gestational Age Related to Body Composition and Metabolic Risk at Six Years of Age in the UK
Conclusions: Within this population-based sample of SGA children, catch-up growth in weight was associated with higher abdominal fat mass, blood pressure and glycemia; furthermore, in these children, less height gain was associated with reduced limb lean and fat mass.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 23, 2020 Category: Endocrinology Source Type: research

Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points
Conclusion: Early collection of specimens necessitated by early discharge resulted in milder CAH cases falling below the screening 17-OHP cutoff. In our program 25% of cases were detected on a routine second screen.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 13, 2020 Category: Endocrinology Source Type: research

Effect of Testosterone Treatment for Delayed Puberty in Duchenne Muscular Dystrophy
Conclusion: Testosterone for delayed puberty acted as an adjunct to bisphosphonates to increase bone density and stabilize vertebral fracture in most boys with DMD.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 1, 2020 Category: Endocrinology Source Type: research

2020 Pediatric Endocrine Society (PES) Annual Meeting
Horm Res Paediatr 2020;93(suppl 1):I –II (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 30, 2020 Category: Endocrinology Source Type: research

2020 Pediatric Endocrine Society (PES) Annual Meeting
Horm Res Paediatr 2020;93:1 –185 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 30, 2020 Category: Endocrinology Source Type: research

Minipuberty: Why Does it Happen?
Minipuberty describes the transient sex-specific activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 6 months of life in boys and during the first 2 years in girls. It leads to a rise of luteinizing hormone, follicle-stimulating hormone, estradiol, and testosterone. The existence of minipuberty has been known for #x3e;40 years, but we still do not fully understand why it takes place. Current thinking suggests that it is an essential imprinting period for different body functions. Firstly, minipuberty plays an important role in genital organ development; testosterone influences penile growth, the nu...
Source: Hormone Research in Paediatrics - June 29, 2020 Category: Endocrinology Source Type: research

A Comprehensive Multidisciplinary Management Plan Is Effective in Reducing the Prevalence of Overweight and Obesity in Childhood and Adolescence
Conclusions: A personalized multidisciplinary management plan is effective at reducing the prevalence of obesity in childhood and adolescence.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 24, 2020 Category: Endocrinology Source Type: research

Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism
Conclusion: Patients on long-term diazoxide treatment may be at risk of pericardial effusion, the timing and significance of which is unpredictable. The duration of diazoxide treatment before presentation of pericardial effusion varied in our patients from weeks to years. We advise serial echocardiography 1 –2 months after commencement of diazoxide and annually thereafter.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 24, 2020 Category: Endocrinology Source Type: research

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of < b > < i > ACAN < /i > < /b > Variants
Conclusions: These reference charts can be used for 2- to 17-year-old children/adolescents. Carriers ofACAN haploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 23, 2020 Category: Endocrinology Source Type: research

Contents Vol. 92, 2019
Horm Res Paediatr 2019;92:I –VIII (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 19, 2020 Category: Endocrinology Source Type: research

Acknowledgements to the Reviewers
Horm Res Paediatr 2019;92:405 –406 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 19, 2020 Category: Endocrinology Source Type: research

Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in Relation to Growth Hormone Therapy Onset
Conclusions: OSA in PWS children appears to develop independently of treatment onset. Treatment may therefore safely be initiated early but should be accompanied by regular sleep analysis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 12, 2020 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 3, 2019 Category: Endocrinology Source Type: research

Effect of Vitamin D Supplementation on Lipid Profile in Vitamin D-Deficient Children with Type 1 Diabetes and Dyslipidemia
Conclusions: VDD was highly prevalent in patients with T1D. There was no significant correlation between 25OHD levels and lipid profile in patients with T1D. VD supplementation for 4 months had a significant lowering effect on LDL and HbA1c.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - July 2, 2019 Category: Endocrinology Source Type: research

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
Conclusion: The HIV drug efavirenz inhibits CYP21A2 activity in vitro through direct interaction with enzyme catalysis at therapeutic concentrations. This may have clinical implications for HIV treatment in children and adults. However, so far, clinical data are scarce, and further studies are needed to be able to draw clinical conclusions.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 28, 2019 Category: Endocrinology Source Type: research

Author and Subject Index Vol. 91, issue 2, 2019
Horm Res Paediatr 2019;91:152 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 28, 2019 Category: Endocrinology Source Type: research

Preliminary Pages
Horm Res Paediatr 2019;91:69 –71 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 28, 2019 Category: Endocrinology Source Type: research

Remembering Jean-Pierre Bourguignon, MD, PhD
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 25, 2019 Category: Endocrinology Source Type: research

Decreased Circulating Levels of Asprosin in Obese Children
Conclusions: Concentrations of asprosin were significantly lower in obese children than in normal-weight children, and there was a gender difference in asprosin concentration. Our results suggest a complex role for asprosin in energy metabolism.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 18, 2019 Category: Endocrinology Source Type: research