Hormone Research in Paediatrics儿科激素研究
Hormone Research in Paediatrics(英文缩写 HORM RES PAEDIAT),ISSN 1663-2818,eISSN 1663-2826,中文译名:儿科激素研究 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-10-01 至 2026-09-30，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 4.275 | Q1 |
| 2022 | 3.200 | Q2 |
| 2023 | 2.600 | Q1 |
| 2024 | 2.700 | Q1 |
| 2025 | 3.800 | Q1 |
Hormone Research in Paediatrics 最新收录文献
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1. Development and Pilot Clinical Evaluation of DiaBuddy, a Point-of-Care Decision Support Tool for Children and Adolescents with Insulin-Treated Diabetes.
PMID:日期:2026-10-01Background - Optimal management of insulin-treated pediatric and adolescent diabetes, particularly type 1 diabetes (T1D), requires precise insulin dosing and sick-day decision-making; deficiencies in either predispose to hypoglycemia, suboptimal glycaemic control, and diabetic ketoacidosis. We developed DiaBuddy™, a guideline-aligned mobile decision support tool, and evaluated its accuracy versus expert guidance and clinical changes observed during pilot evaluation in children and adolescents with insulin-treated diabetes. Methods - The preclinical validation compared DiaBuddy and family recommendations (N = 37) for 20 insulin-dosing and 20 sick-day vignettes against a pediatric endocrinologist gold standard. The prospective single-arm pilot study explored changes over 12 weeks in 20 children and adolescents with insulin-treated diabetes. HbA1c was the primary clinical outcome; CGM-derived metrics, PedsQL quality-of-life scores, application use, and satisfaction were exploratory secondary outcomes. Results - In the preclinical study, DiaBuddy showed lower absolute relative deviation for basal (5.0 ± 6.7% vs 24.2 ± 25.9%), bolus (6.9 ± 10.9% vs 45.3 ± 48.8%), and combined doses (6.3 ± 9.3% vs 39.0 ± 37.8%; all P < 0.001) than families. DiaBuddy™ achieved ≥90% accuracy across all sick-day domains versus 27-70% for families; and provided a guideline-concordant response in 94.5% of instances in which family responses were erroneous, including all instances involving an incorrect family hospitalisation decision. In the clinical study, HbA1c declined from 9.18 ± 1.99% to 8.48 ± 1.44% (p = 0.049) and the PedsQL score increased from 76.5 ± 8.6 to 89.1 ± 7.1 (+12.6 points, P < 0.001) with no change in CGM metrics. Application satisfaction was high (mean score 44.1 ± 4.1 out of 50) with most wishing to continue using it. Conclusions - DiaBuddy delivered guideline-aligned guidance in vignette testing. In this single-centre, uncontrolled pilot, observed changes in HbA1c and PedsQL are hypothesis-generating and require evaluation in an adequately powered multicentre randomised controlled trial.
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2. The transient pubertal free thyroxine dip should not be misinterpreted as central hypothyroidism: a case series.
PMID:日期:2026-10-01During puberty, free thyroxine (fT4) concentrations transiently decrease with a nadir around Tanner stage 3. Due to the interindividual variation in timing of pubertal onset, this transient fT4 dip occurs at different ages and becomes less apparent within an age-specific reference interval (RI). This may result in fT4 concentrations temporarily falling below the lower limit of the RI when age-specific instead of Tanner stage-specific RIs are used. As thyroid stimulating hormone (TSH) levels usually remain within the age-specific RI, the resulting biochemical profile resembles central hypothyroidism and frequently triggers extensive, but often unnecessary diagnostic work-ups. We present two cases of asymptomatic adolescents with low fT4 concentrations in combination with a normal TSH, in whom central hypothyroidism was initially suspected but subsequently excluded. In all cases, fT4 concentrations normalized later in puberty without intervention. This phenomenon likely reflects increased peripheral conversion of T4 to triiodothyronine (T3) under the influence of growth hormone and sex steroids. Awareness of this physiological phenomenon is essential to avoid misdiagnosis, overtreatment, and undue psychological stress. Our findings highlight the need for Tanner stage-specific fT4 RIs to guide thyroid function interpretation in adolescents.
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3. A Century of Growth Hormone from Pierre Marie (1886) to Creutzfeldt-Jakob Disease (1985).
PMID:日期:2026-09-22The century from1886 to 1985 was auspicious for those with an interest in growth. A clinically recognized overgrowth syndrome was named acromegaly. It explained some earlier described patients and even distant historical figures. Quickly this clinical syndrome was tied to a pituitary tumor and therapy from a group of innovative neurosurgeons. Contemporaneously, failure of the pituitary was recognized and noted to be a cause of severe growth failure and infantilism. Experimentally, new techniques were developed to hypophysectomize animals from tadpoles to rats as well as to learn to extract, purify and replace the missing pituitary hormones with increasingly pure and potent extracts from bovine pituitaries. These developments led to the concept of species specificity for growth hormone (GH), that is, only primate GH was biologically effective in primates, as well as the active core hypothesis which postulated that all species had GH molecules with active centers for their pleotropic effects and that unmasking them might make portions of the animal GH molecules active in man. In the end that has not proven correct, but became moot given the explosion of the molecular biology era with its virtually unlimited supply of recombinant hGH. Human (primate) GH is species specific and to date the active core hypothesis which might have provided biologically effective peptides, derived from animal or human GHs, and likely to be synthesized with the techniques available at that time (mid-1960s) were never required given that rhGH was approved for clinical use in those with hypopituitarism.
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4. The transition of youth with diabetes from paediatric to adult diabetes care services: a consensus report of the joint working group of the International Society for Pediatric and Adolescent Diabetes (ISPAD), the European Association for the Study of Diabetes (EASD) and the American Diabetes Association (ADA).
PMID:日期:2026-09-16Young adulthood is a period of significant and unique physiological, psychological, sexual and social upheaval. Related challenges can have an impact on effective diabetes self-management, with high rates of unplanned healthcare use recorded for many, and consequent increases in the risks of premature morbidity and mortality. Healthcare professionals need guidance in delivering transition support for adolescents and young adults with diabetes. This would help to facilitate the formulation and implementation of local policies and procedures, enabling guidelines to be translated into practice and improving transition of care readiness. This led ISPAD, EASD and ADA to convene a working group to produce a consensus report on the transition from paediatric to adult diabetes healthcare services. The ACCORD and AGREE II recommendations for the development of consensus reports and clinical guidelines, respectively, were followed. Existing diabetes-specific recommendations on the transition of care, published statements, a prior position paper, general recommendations and online toolkits were initially identified and reviewed. Current evidence was then systematically reviewed, supplemented with primary data on the perceptions and experiences of healthcare professionals and of people with diabetes and their caregivers from global surveys. Evidence with a grading of A or B was automatically included in the consensus statements; evidence with a C or E grading was subjected to a Delphi survey for validation. Consensus was obtained for 31 statements on the full transition of care continuum and the three unique stages of pre-transfer, transfer and post-transfer. This consensus report should be viewed as a guide and adjusted to local settings.
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5. Scheduled remote review of continuous glucose monitoring data with targeted intervention vs standard care in children with Type 1 Diabetes: A parallel-groups study.
PMID:日期:2026-09-12This study evaluated the impact of scheduled review of continuous glucose monitoring (CGM) data with targeted remote intervention on glycaemic and person-reported outcomes in children with type 1 diabetes (T1D). Children aged 5-14 years with T1D using CGM were recruited from two metropolitan clinics at Perth Children's Hospital in Western Australia; one clinic group was assigned to intervention and the other to control. The intervention group underwent CGM review by a diabetes educator every 14-days. Participants with >10% decrease in time in range (TIR: 3.9-10.0 mmol/L) from the previous review period, or who were not meeting consensus CGM targets, were prioritised and offered personalised remote advice via phone or email; the number receiving contact was constrained based on allocated educator time in each 14-day period. Those improving or meeting targets received positive feedback by SMS. Change in TIR from baseline to 6 months was compared between groups using difference-in-difference analysis. Person-reported outcomes were assessed using Type 1 Diabetes and Life (T1DAL) and Diabetes Treatment Satisfaction (DTSQ) questionnaires. A total of 113 children were recruited, 60 in the intervention (53% male, age 10. 2(2.7) years, baseline TIR 66.9% (13.4), HbA1c 7.2% (1.3)) and 53 in the control (51% male, age 9.6 (2.6) years, baseline TIR 69.4% (13.4), HbA1c 6.9% (0.8)). Most participants used automated insulin delivery systems; 64% in the control and 72% in the intervention. Across 14-day periods, mean (95% CI) 71% (67, 75) of participants in the intervention group were identified for targeted support; 39% (30, 49) received remote advice. Positive feedback was sent to 38% (32, 43) in each 14-day period. Compared with the control group, the intervention group showed a non-significant 3.1 percentage point increase in time in range (β = 3.1, p = 0.11). Over six-months, mean TIR decreased in the control group (69.4% to 66.6%) and was unchanged in the intervention group (66.9% to 67.0%). No significant between-group differences were observed in T1DAL or DTSQ scores, limited by low end-of-intervention questionnaire response rates. Regular CGM review identified many participants not meeting CGM targets, and over half received targeted intervention. However, the intervention did not significantly improve TIR or person‑reported outcomes. While it did not bring participants into target range in this well‑controlled cohort, the model may have greater effect in children with lower baseline TIR. Future trials should evaluate its impact in higher‑risk youth.
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6. Demand Breastfeeding in Infants using Diazoxide to manage Congenital Hyperinsulinism.
PMID:日期:2026-09-12Congenital Hyperinsulinism (CHI) is a rare condition which causes severe and profound hypoglycaemia. Breastfeeding is often stopped at diagnosis of CHI to reduce the likelihood of fluid overload during treatment with diazoxide, but without supportive evidence. Breastfeeding confers numerous advantages to all newborn babies and their mothers and may be safe and effective in babies with CHI. We aimed to evaluate whether demand breastfeeding in babies and infants with CHI receiving diazoxide therapy maintains safe glycaemic stability without risk of fluid overload. A retrospective observational review was undertaken to test safety, efficacy and acceptability of breastfeeding alongside diazoxide treatment in 17 infants with biochemically confirmed CHI. Data was collected on feeding method, glycaemic outcomes, adverse effects, signs/symptoms of fluid overload and genetic aetiology of CHI. The cohort included 17 infants (13 males, 4 females). Two patients had genetic forms of CHI; due to ABCC8 and HNF4A variants, while the remaining infants were diagnosed with transient CHI. All infants were demand breastfed; four infants transitioned from restricted bottle feeding to successful demand breastfeeding during the treatment course. Duration of diazoxide therapy ranged from 5-13 weeks in patients with transient CHI. The two patients with genetic CHI required prolonged therapy, with treatment durations of 9-18 months at the time of the study. Glycaemic stability was maintained throughout the treatment period without any increase in hypoglycaemic episodes during transfer to breastfeeding or reductions in diazoxide. There was no clinical evidence of fluid overload across the patient cohort. No diazoxide related adverse effects were observed, and therapy did not interfere with breastfeeding progression. Study findings support the feasibility and safety of demand breastfeeding in infants receiving diazoxide for CHI. This supports metabolic stability and parental feeding goals. These findings suggest that breastfeeding should not be routinely discouraged in this population and can be safely pursued with appropriate monitoring.
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7. Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.
PMID:日期:2026-09-12Introduction We investigated two siblings from a consanguineous Kurdish family presenting with a specific facial phenotype (prominent forehead, supraorbital ridges, broad nose, depressed nasal bridge), severe short stature with biochemical features of growth hormone (GH) deficiency, microcephaly, and developmental delay. Whole-exome sequencing identified a homozygous variant (c.3119G>A, p.Arg1040His) in gene ZSWIM6, a putative transcription factor. Previously, only de novo heterozygous ZSWIM6 variants were known, causing either acromelic frontonasal dysostosis (AFND) or severe intellectual disability without craniofacial or skeletal anomalies. We aimed to characterize the functional impact of these three distinct variants to understand the resulting genotype-phenotype correlations. Methods The three ZSWIM6 variants were prepared in vitro by site-directed mutagenesis. Transcriptional activity was assessed in HEK293 cells using dual-luciferase reporter assays for HECW2 and ZIC2 promoters, previously hypothesized to possess functional links to ZSWIM6. In addition, in silico 3D structural modelling was performed using AlphaFold to predict the impact of each mutation on protein conformation and surface charge. Results The siblings shared partial overlap with prior ZSWIM6-associated phenotypes but also exhibited a distinct clinical presentation. Functional assays confirmed ZSWIM6 is a transcriptional regulator of the HECW2 and ZIC2 promoters. The three variants showed different effects on transcriptional regulation: the p.Arg1040His variant reduced ZIC2 activation (loss-of-function), p.Arg1163Trp enhanced ZIC2 activation (gain-of-function), and p.Arg913Ter specifically increased HECW2 activation (derepression). The 3D structural modelling predicted that p.Arg1040His and p.Arg1163Trp alter local surface charge without disrupting the overall fold, while p.Arg913Ter truncates ZSWIM6, potentially affecting the DNA binding interactions. Conclusion We report the first-ever homozygous ZSWIM6 variant, causing a novel phenotype of severe syndromic short stature with biochemical features consistent with GH deficiency and developmental delay. Our findings demonstrate that ZSWIM6 is a key transcriptional regulator and that allele-specific disturbances drive the marked clinical heterogeneity of ZSWIM6-related disorders.
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8. Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.
8. 完善软骨发育不良表型连续体：23名患者的遗传、内分泌和放射学发现PMID:日期:2026-09-11Hypochondroplasia (HCH) is mild, often under-recognized skeletal dysplasia caused by FGFR3 variants. It is characterized by disproportionate short stature and subtle radiographic findings, which can delay diagnosis. This study evaluated genetic, endocrine, and radiographic findings in patients with HCH. We performed retrospective, single-center review of individuals with molecularly confirmed FGFR3 variants. Diagnosis was established by clinical exome and/or Sanger sequencing, and anthropometric, dysmorphologic, radiologic, and molecular data were extracted from medical records. Twenty-three patients (10 males, 13 females) were included. Short stature, frequently accompanied by skeletal abnormalities, was common. Most frequent radiologic findings were increased lumbar lordosis, lack of expected caudal widening of interpedicular distance, and scoliosis. Seven distinct FGFR3 genotypes were identified, with p.Asn540Ser and p.Asn540Lys being most prevalent. Hypochondroplasia typically results from heterozygous FGFR3 variants, most commonly p.Asn540Ser or p.Asn540Lys substitutions. p.Asn540 appears central to disease pathogenesis and aligns with graded activation model, in which serine substitution is thought to increase receptor activation less than lysine substitution. Consistent with this, clinical findings in our cohort were milder in individuals with serine substitution than in those with lysine substitution. Clinical presentation usually includes mild-to-moderate disproportionate short stature with variable features such as macrocephaly, acanthosis nigricans, or craniosynostosis, and marked intra/interfamilial variability with mild radiographic dysplasia. This study underscores genetic and clinical heterogeneity of HCH. Molecular diagnosis is essential for accurate identification, and continued reporting of clinical and molecular data will refine phenotypic spectrum and improve genotype-phenotype correlations.
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9. Diagnostic Value of Thyroid Ultrasound in Disseminated Fungal Infection. Case Report.
9. 甲状腺超声在播散性真菌感染中的诊断价值。病例报告PMID:日期:2026-09-11Intrathyroidal nodules in pediatrics are less frequent than in adults. Infectious etiologies, particularly fungal, are rare but relevant in immunocompromised patients and can mimic neoplastic lesions. We report a 14-year-old female with a history of osteosarcoma; six months after oncologic treatment she was diagnosed with acute lymphoblastic leukemia. A cervical imaging study performed for central venous catheter placement revealed two left thyroid nodules interpreted as suspicious for malignancy. Fine-needle aspiration (FNA) was performed. Initial pathology was negative for neoplastic cells and demonstrated hyaline septate hyphae; subsequent microbiological evaluation identified Candida albicans. The patient received targeted antifungal therapy. This case illustrates that fungal thyroid infection can be present as a nodule suspicious for malignancy in pediatric oncology patients, even in the absence of overt neutropenia. FNA allowed identification of hyphae and guided microbiological workup, underscoring the usefulness of combining cytology, culture, and molecular techniques for etiologic diagnosis and appropriate management. In oncologic or immunocompromised patients presenting with a newly appearing thyroid nodule, especially when prior imaging was normal, infectious etiologies - including fungi - should be included in the differential diagnosis.
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10. Patterns, Perceptions, and Gaps in Estrogen Replacement Therapies Among Adolescents and Adults with Turner Syndrome: Insights from the UTHealth Houston/Turner Syndrome Society of the United States Research Registry.
PMID:日期:2026-09-10Most individuals with TS develop hypergonadotropic hypogonadism and need exogenous estrogen replacement for induction of puberty and continue to require estrogen replacement until approximately the age of natural menopause. Despite established guidelines, gaps remain in long-term adherence and patient understanding of estrogen therapy. This study explored estrogen use patterns, perceived benefits, and challenges among individuals with TS. The study survey was implemented in Research Electronic Data Capture and distributed to UTHealth Houston/Turner Syndrome Society of the United States Research Registry participants between July and September 2024. A total of 169 individuals with TS responded to the survey. The mean age of study participants was 39.3 years (SD 16.9 years). Most (86%) had used estrogen at some point in their lives, and 65% were still taking estrogen at the time of the survey. One-third of participants who had discontinued estrogen were younger than 50 years old. Interruption of estrogen use occurred at least once in 27% of participants over the last 10 years. One in five participants currently taking estrogen endorsed significant side effects such as breakthrough bleeding, anxiety, depression, and mood swings, as well as brain fog and difficulties with memory or learning. More than one-third of participants did not believe they needed estrogen therapy, including one in five respondents younger than 50 years. Common reasons included perceived lack of health benefit (16%), not being sexually active (19%), concerns about cancer risk (5%), and limited awareness of the benefits of estrogen therapy (16%). Self-reported mental health diagnoses were common (47%), with anxiety (80%) and depression (69%) being the most frequently reported conditions. Estrogen replacement remains an essential component of long-term care for individuals with Turner syndrome. This survey identified important barriers to sustained estrogen use, including side effects, misconceptions regarding the need for therapy, and limited awareness of its health benefits. These findings highlight the importance of individualized counseling, patient education, and coordinated long-term follow-up to improve adherence and optimize long-term health outcomes.