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

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician
Based on a recent Dutch national guideline, we propose a structured stepwise diagnostic approach for children with growth failure (short stature and/or growth faltering), aiming at high sensitivity for pathologic causes at acceptable specificity. The first step is a detailed clinical assessment, aiming at obtaining relevant clinical clues from the medical history (including family history), physical examination (emphasising head circumference, body proportions and dysmorphic features) and assessment of the growth curve. The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment o...
Source: Hormone Research in Paediatrics - June 13, 2019 Category: Endocrinology Source Type: research

Height Gain and Safety Outcomes in Growth Hormone-Treated Children with Idiopathic Short Stature: Experience from a Prospective Observational Study
Conclusions: GH-treated children with ISS achieved substantial height gain, similar to patients with IGHD. Fewer GH-treated girls were enrolled than boys, but with similar height SDS gain over time. No ISS-specific safety issues were identified. Thus, GH treatment of ISS appears to have a safety/effectiveness profile similar to that of IGHD.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 11, 2019 Category: Endocrinology Source Type: research

Prevalence of Premature Thelarche at 18 Months of Age: A Population- and Hospital-Based Study of Prevalence and Incidence in Girls Born at Northern Älvsborg County Hospital in Sweden
Conclusion: This is the first prospective population-based study of PT and it shows a prevalence of PT at age 18 months of 1.6/1,000. The incidence of clinically evaluated PT was 1.1/1,000. Our result is in line with other studies reporting the incidence of PT from medical records (0.4 –40/1,000). The outcome of PT in our study, as in the other studies, is that the great majority of girls show only benign symptoms.Horm Res Paediatr 2019;91:1 –7 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 5, 2019 Category: Endocrinology Source Type: research

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy
Conclusion: The proposed model of prospective data collection according to internationally agreed protocols aims to break the current impasse in obtaining evidence-based management for TS and could be applied to other rare paediatric endocrine conditions.Horm Res Paediatr 2019;91:1 –11 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 5, 2019 Category: Endocrinology Source Type: research

Impact of Growth Hormone Therapy on Adult Height in Patients with < b > < i > PTPN11 < /i > < /b > Mutations Related to Noonan Syndrome
Conclusions: This study supports the advantage of rhGH therapy on adult height inPTPN11+ patients. In comparison,PTPN11– patients showed a poor response to rhGH. However, this PTPN11– group was small, preventing an adequate comparison among different genotypes and no guarantee of response to therapy in genes besidesPTPN11.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2019 Category: Endocrinology Source Type: research

Retraction Statement
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 24, 2019 Category: Endocrinology Source Type: research

The Incidence of Childhood Thyrotoxicosis Is Increasing in Both Girls and Boys in Sweden
Conclusions: The IR of CT is increasing in both girls and boys. Relapse rate after withdrawal of ATD treatment is 70%. Boys tend to relapse earlier than girls, and this needs to be further investigated.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 16, 2019 Category: Endocrinology Source Type: research

Anti-Hypothalamus and Anti-Pituitary Auto ­antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis
Conclusions: These findings support the involvement of autoimmunity in ROHHAD syndrome. However, response to immunosuppressive treatment was only transient and the patient died. Further cases are required to define the complex disease pathogenesis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 5, 2019 Category: Endocrinology Source Type: research

A New Model of Adult Height Prediction Validated in Boys with Constitutional Delay of Growth and Puberty
Conclusions: The new model to predict adult height in boys with CDGP provides novel indices for height predictions in bone ages #x3e;13 years and is adapted to different degrees of bone age retardation. The new prediction model has a good predictive capability and overcomes some of the shortcomings of the BP model.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 5, 2019 Category: Endocrinology Source Type: research

Normal Growth despite Combined Pituitary Hormone Deficiency
Conclusion: The high IGF-II/IGFBP-3 molar ratio was not the cause of the sustained high growth velocity, due to the low affinity of IGF-II for IGF type 1 receptor. The key finding was theHESX1 mutation, as similar cases have been described before, suggesting a common mechanism for growth without GH. However, the variable penetrance of this variant in heterozygous relatives suggests that modifier genes or mechanisms involving combinations with mutations of other genes involved in intracellular signaling pathways might be responsible.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 25, 2019 Category: Endocrinology Source Type: research

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in < b > < i > SCNN1A < /i > < /b > and < b > < i > SCNN1B < /i > < /b > Genes
Conclusion: PHA1 should be considered at differential diagnosis in patients presenting with hyponatremia, hyperkalemia, and metabolic acidosis. The cases in this report involving 4 novel variants will add valuable insights into the phenotype-genotype relationship and will expand the mutation database.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 24, 2019 Category: Endocrinology Source Type: research

Whole Exome Sequencing Revealed a Novel Nonsense Variant in the < b > < i > GNRHR < /i > < /b > Gene < b > < i > < /i > < /b > Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family
Conclusion: We report the first homozygous nonsense mutation in theGNRHR gene (chr4: g. 68619942G#x3e;A, c.112C#x3e;T, p. Arg38*) that is associated with familial nCHH. Hence, our study displayed a good correlation of the genotype and phenotype of nCHH patients.Horm Res Paediatr 2019;91:1 –8 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 15, 2019 Category: Endocrinology Source Type: research

Biological Significance of Anti-GH Antibodies in Children Treated with rhGH
Conclusions: The biological significance of anti-GH antibodies seems to be limited to patients with high concentrations of anti-GH antibodies. For all other patients, we recommend a careful “wait and see” strategy and monitoring antibody titers.Horm Res Paediatr 2019;91:1 –8 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 15, 2019 Category: Endocrinology Source Type: research

Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment
Conclusions: In children with ISS we identified associations with “short” alleles at a number of height-related loci. In addition, a polymorphic variant located nearSF3B4 was associated with the GH treatment response in our cohort. The findings in our small study warrant further investigation.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 15, 2019 Category: Endocrinology Source Type: research

Acknowledgement to the Reviewers
Horm Res Paediatr 2018;90:432 –434 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 15, 2019 Category: Endocrinology Source Type: research

Contents Vol. 90, 2018
Horm Res Paediatr 2018;90:I –VI (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 15, 2019 Category: Endocrinology Source Type: research

Treatment with Growth Hormone in Noonan Syndrome Observed during 25 Years of KIGS: Near Adult Height and Outcome Prediction
Conclusion: rhGH treatment increases NAH in NS. Prediction algorithms may optimize treatment in the future.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 3, 2019 Category: Endocrinology Source Type: research

The Bone Markers Sclerostin, Osteoprotegerin, and Bone-Specific Alkaline Phosphatase Are Related to Insulin Resistance in Children and Adolescents, Independent of Their Association with Growth and Obesity
Conclusions: Besides their association with growth, sclerostin and osteoprotegerin levels are altered in childhood obesity. Particularly B-ALP was related to insulin resistance indices. Our findings accent the link between bone, growth, and insulin resistance.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 22, 2019 Category: Endocrinology Source Type: research

Hypothalamic Obesity: Prologue and Promise
Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balance through neural and humoral connections. HO is most commonly described in the context of craniopharyngioma and its treatment, but it can also occur following other suprasellar tumors, radiation, trauma, or a surgical insult to the hypothalamus. A constellation of loss of satiety and a reduction of the metabo...
Source: Hormone Research in Paediatrics - March 20, 2019 Category: Endocrinology Source Type: research

Rate of Serious Adverse Events Associated with Diazoxide Treatment of Patients with Hyperinsulinism
Conclusion: The rate of SAEs associated with (not necessarily caused by) diazoxide has been demonstrated. The rate of SAE in newborns with perinatal stress hyperinsulinism is significantly higher than that of otherwise healthy babies with genetic forms of hyperinsulinism, suggesting that caution should be used when prescribing diazoxide to this population. This information should help balance the risk benefit of treatment and provide guidance on screening for these complications in the population of treated patients.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 20, 2019 Category: Endocrinology Source Type: research

< b > < i > CYP21A2 < /i > < /b > Gene Pathogenic Variants: A Multicenter Study on Genotype –Phenotype Correlation from a Portuguese Pediatric Cohort
Conclusion: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype –phenotype correlation observed.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 20, 2019 Category: Endocrinology Source Type: research

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement
We report the case of a neonate presenting with CHI and extensive venous and arterial thrombosis associated with kidney, heart, liver, skeleton, and brain abnormalities and finally diagnosed with SoS on whole genome sequencing. Our case describes an extended phenotype associated with SoS presenting with CHI (including thrombosis and liver dysfunction) and reinforces the association of transient CHI with SoS. The case also shows that an early neonatal diagnosis of rare genetic conditions is challenging, especially in acutely unwell patients, and that in complex cases with incomplete, atypical, or overlapping phenotypes, bro...
Source: Hormone Research in Paediatrics - March 16, 2019 Category: Endocrinology Source Type: research

Quality of Life in Adolescent Boys with Idiopathic Short Stature: Positive Impact of Growth Hormone and Aromatase Inhibitors
Conclusions: Treatment with GH and AI/GH was associated with improved QoL scores as measured from both the patients ’ and the parents’ perspectives, suggesting that the improved growth resulting from the use of these growth-promoting therapies has beneficial psychosocial effects in adolescent males with ISS followed for 24 months.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 7, 2019 Category: Endocrinology Source Type: research

Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies
Conclusion: Real-life data show that treatment with Zomacton ® improves auxological outcome parameters without new safety concerns. NF administration of GH represents a useful alternative to NI in children with growth disorders.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 7, 2019 Category: Endocrinology Source Type: research

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome
Conclusions: These results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 7, 2019 Category: Endocrinology Source Type: research

Body Composition and Circulating Polyunsaturated Fatty Acids at Age 6 Years: A Longitudinal Pilot Study
In conclusion, in this pilot study, maternal, cord blood, and children ’s circulating PUFA do not appear to have an impact on body composition and endocrine-metabolic status at the age of 6 years. The close association between maternal PUFA and offspring PUFA at that age may reflect a similarity in nutritional habits in the mother and child.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 7, 2019 Category: Endocrinology Source Type: research

Plasma C-Type Natriuretic Peptide: Emerging Applications in Disorders of Skeletal Growth
Although studies in experimental animals show that blood levels of C-type natriuretic peptide (CNP) and its bioinactive aminoterminal propeptide (NTproCNP) are potential biomarkers of long bone growth, a lack of suitable assays and appropriate reference ranges has limited the application of CNP measurements in clinical practice. Plasma concentrations of the processed product of proCNP, NTproCNP – and to a lesser extent CNP itself – correlate with concurrent height velocity throughout all phases of normal skeletal growth, as well as during interventions known to affect skeletal growth in children. Since a change...
Source: Hormone Research in Paediatrics - March 7, 2019 Category: Endocrinology Source Type: research

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool
Conclusions: This study provides evidence for the reliability and validity of the PAT-DSD. Given variability in the internal reliability across subscales, this measure is best used to screen for overall family risk, rather than to assess specific psychosocial concerns.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 15, 2019 Category: Endocrinology Source Type: research

A Familial Case of a Whole Germline < b > < i > CDC73 < /i > < /b > Deletion Discordant for Primary Hyperparathyroidism
Conclusions: These data clearly demonstrate the Knudson two-hit theory from a molecular viewpoint. Phenotypic variability and incomplete penetrance ofCDC73-related disorders, even if caused by a gross deletion, should be noted in a clinical setting.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 8, 2019 Category: Endocrinology Source Type: research

Growth Disturbances in Childhood Cancer Survivors
Survival from childhood cancer has improved dramatically over the last few decades, resulting in an increased need to address the long-term follow-up and care of childhood cancer survivors. Appropriate linear growth is an important measure of health, with alterations of growth in children and short adult height in those who have completed growth serving as potential indicators of the sequelae of the underlying diagnosis or the cancer treatments. It is therefore critical that clinicians, particularly endocrinologists, be familiar with the patterns of altered growth which may be seen following diagnosis and treatment for chi...
Source: Hormone Research in Paediatrics - February 8, 2019 Category: Endocrinology Source Type: research

Prediction Models for Early Childhood Obesity: Applicability and Existing Issues
Statistical models have been developed for the prediction or diagnosis of a wide range of outcomes. However, to our knowledge, only 7 published studies have reported models to specifically predict overweight and/or obesity in early childhood. These models were developed using known risk factors and vary greatly in terms of their discrimination and predictive capacities. There are currently no established guidelines on what constitutes an acceptable level of risk (i.e., risk threshold) for childhood obesity prediction models, but these should be set following consideration of the consequences of false-positive and false-neg...
Source: Hormone Research in Paediatrics - February 8, 2019 Category: Endocrinology Source Type: research

ESPE and PES International Survey of Centers and Clinicians Delivering Specialist Care for Children and Adolescents with Gender Dysphoria
Conclusion: This first international survey examining the variations in availability and provisions of services for children and adolescents with GD serves as a starting block for further dialogue and future studies.Horm Res Paediatr 2018;90:1 –6 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 31, 2019 Category: Endocrinology Source Type: research

Hypogonadism in Children with a Previous History of Cancer: Endocrine Management and Follow-Up
Hypogonadism after treatment for childhood cancer is a recognized complication and its cause may be subdivided into primary gonadal failure and central hypogonadism. Here, we provide an overview of the risk factors for the development of hypogonadism, assessment and potential interventions and give a summary of the current recommendations for management and follow-up of hypogonadism in childhood cancer survivors.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 31, 2019 Category: Endocrinology Source Type: research

Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series
Conclusion: Unintentional topical androgen exposure or the intense use of diaper rash prevention cream should be ruled out in children with precocious pubarche and/or virilization signs to avoid misdiagnosis and expendable investigation.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 27, 2019 Category: Endocrinology Source Type: research

Diabetes and Metabolic Syndrome in Survivors of Childhood Cancer
Endocrine complications, including diabetes and metabolic syndrome, are highly prevalent in childhood cancer survivors. These metabolic derangements may contribute to survivors ’ risk of excess cardiovascular morbidity and premature mortality. This review summarizes existing knowledge on risk of diabetes and metabolic syndrome among childhood cancer survivors, focusing specifically on known risk factors, potential mechanisms, and screening recommendations. Early diagnosi s via standardized risk-based screening can improve long-term outcomes in this population. Additional work is needed to elucidate the mechanisms und...
Source: Hormone Research in Paediatrics - January 16, 2019 Category: Endocrinology Source Type: research

The Predictive Value of Insulin-Like Growth Factor 1 in Irradiation-Dependent Growth Hormone Deficiency in Childhood Cancer Survivors
Conclusions: IGF-1 levels #x3c; –2 SDS showed a low sensitivity at predicting radiation-induced GHD both in childhood and in adulthood, but a high positive predictive value for GH status at final height reassessment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 15, 2019 Category: Endocrinology Source Type: research

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review
Conclusion: This study not only extended the clinical and mutation spectrum ofSLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 13, 2019 Category: Endocrinology Source Type: research

A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment
We report a case of Gorham-Stout disease (GSD) complicated by chylothorax and treated with a combination therapy with interferon and bisphosphonates. This treatment may be helpful in improving the usually unfavorable prognosis of GSD beginning with a chylothorax before 1 year of age, and in reducing bone lesions. Moreover, the use of bisphosphonates appears to be useful in treating pain.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 13, 2019 Category: Endocrinology Source Type: research

Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia
Conclusion: Parental anxiety decreased over time, but those with higher SOI ratings reported greater initial anxiety followed by slower resolution over time. Underlying etiology of DSD had no effect on the relationship between SOI and anxiety.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 19, 2018 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 14, 2018 Category: Endocrinology Source Type: research

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism
Conclusion: We hypothesize that an intrinsic, gonadotropin- and ACTH-independent activation of steroidogenesis in the DAX1 deficient testes leads to PP in AHC patients with DAX1 mutations.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 14, 2018 Category: Endocrinology Source Type: research

Maternal Stress During Pregnancy Is Associated with Decreased Cortisol and Cortisone Levels in Neonatal Hair
Conclusion: Exposure to excessive pre- and perinatal maternal stress was associated with a decrease in neonatal hair GCs, while elevated stress-scores around birth were associated with increased maternal hair GCs and elevated stress-scores earlier in gestation were not associated with maternal hair GCs pp. Further studies are needed to test associations with infant neurodevelopment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 14, 2018 Category: Endocrinology Source Type: research