Hormone Research in Paediatrics最新文献

{"title":"Marked hypokalemia at presentation in an adolescent with ectopic ACTH syndrome secondary to a bronchial carcinoid tumor: a case report.","authors":"Hasan Yanik, Asli Derya Kardelen, Dogu Vuralli Bakkaloglu, Zeynep Gozde Ozkan, Salih Duman, Berker Ozkan, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas","doi":"10.1159/hrp/adaag035","DOIUrl":"https://doi.org/10.1159/hrp/adaag035","url":null,"abstract":"<p><strong>Introduction: </strong>Ectopic ACTH syndrome (EAS) is a rare cause of Cushing's syndrome in children and adolescents, accounting for less than 1% of pediatric cases. Compared with Cushing's disease, EAS follows a more rapid clinical course with more pronounced metabolic disturbances, among which hypokalemia is one of the most distinctive features.</p><p><strong>Case presentation: </strong>A 14.7-year-old male presented with a three-month history of rapid weight gain, violaceous striae, hypertension, and proximal muscle weakness. Marked hypokalemia (2.8 mmol/L) prompted endocrine work-up, which revealed ACTH-dependent hypercortisolism with loss of diurnal cortisol rhythm, elevated midnight salivary cortisol, and non-suppression on low- and high-dose dexamethasone suppression tests. Pituitary MRI was unremarkable, and the marked hypokalemia raised suspicion of an ectopic source. Thoracic CT identified a nodular lesion in the right middle lobe, with corresponding uptake on ⁶⁸Ga-DOTATATE PET/CT. Right middle lobectomy was performed, and histopathology confirmed a typical bronchial carcinoid tumor. Postoperatively, hypercortisolism resolved, electrolyte balance normalized, and Cushingoid features regressed.</p><p><strong>Conclusion: </strong>Marked hypokalemia at presentation may serve as an early biochemical clue to ectopic ACTH secretion in pediatric ACTH-dependent hypercortisolism, and should prompt timely evaluation for extrapituitary sources, including bronchial carcinoid tumors.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features and Short-Term Growth Hormone Outcomes in Maternal UPD of Chromosome 20: Five Chinese Patients and a Literature Review.","authors":"Hui Sun, Xiuli Chen, Min Chen, Zhengwei Cai, Yuan Li, Fengyun Wang, Rongrong Xie, Ting Chen, Linqi Chen, Xiaoyan Wang, Bingyu Yang, Haiyan- Wei, Haiying Wu","doi":"10.1159/hrp/adaag033","DOIUrl":"https://doi.org/10.1159/hrp/adaag033","url":null,"abstract":"<p><strong>Background: </strong>Maternally derived uniparental disomy of chromosome 20 [UPD(20)mat], also known as Mulchandani-Bhoj-Conlin syndrome (MBCS), is a rare imprinting disorder with fewer than 30 cases documented to date. It is characterized by prenatal and postnatal growth failure and feeding difficulties. Herein, we aimed to summarize the clinical and growth characteristics of UPD(20)mat and describe short-term growth outcomes during recombinant human growth hormone (rhGH) exposure in affected individuals.</p><p><strong>Methods: </strong>We retrospectively analyzed five Chinese children with UPD(20)mat genetically evaluated by whole-exome sequencing (WES), methylation-specific multiplex ligation-dependent probe amplification, or short tandem repeat analysis. Clinical manifestations and growth data were collected. Four patients received rhGH therapy and were evaluated for changes in height standard deviation scores (Ht-SDS). In addition, we conducted a structured narrative review of 23 previously published cases identified in PubMed, CNKI, and WanFang through July 19, 2026.</p><p><strong>Results: </strong>The cohort included three female and two male children, with a median age at diagnosis of 3.4 years. Predominant features included advanced maternal age (3/4), postnatal feeding difficulties with low body mass index (BMI), and low absolute serum insulin-like growth factor-1 concentrations in the available records. Facial dysmorphism was mild and predominantly characterized by a prominent forehead and relative macrocephaly. Neurodevelopmental delay was noted in 4/5 patients. After rhGH treatment (duration: 10-15 months), the four treated patients showed substantial short-term catch-up growth, achieving a mean annualized height velocity of 10.7 cm/year and a mean increase in Ht-SDS of +1.18 (range: +0.7 to +2.0). The narrative review identified postnatal growth failure (93%) and feeding difficulties (100%) as cardinal features.</p><p><strong>Conclusion: </strong>To our knowledge, this study reports the largest case series of Chinese patients with UPD(20)mat to date, highlighting that neurodevelopmental delay and hypotonia are frequent features of this condition. rhGH exposure was associated with short-term increases in linear growth, but the findings are exploratory and do not establish efficacy. Compared with SRS, facial dysmorphism was mild and non-specific, underscoring the importance of early genetic testing in children with unexplained early-onset growth failure.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-term side effects of first bisphosphonate infusion in children with different underlying bone pathologies.","authors":"Adalbert Raimann, Wolfgang Högler, Elisabeth Laurer, Oliver Semler, Robyn Gilbey-Cross, Stefanie Stasek, Moira Cheung","doi":"10.1159/hrp/adaag034","DOIUrl":"https://doi.org/10.1159/hrp/adaag034","url":null,"abstract":"<p><strong>Background: </strong>Intravenous bisphosphonates are the primary pharmacological intervention for both primary and secondary paediatric osteoporosis. Following the successful use of bisphosphonates in children with osteogenesis imperfecta (OI), indications have expanded to a broad range of bone pathologies with variable underlying pathophysiology. While bisphosphonate use appears to be safe in children, data on risk factors for acute-phase reaction remain sparse. A prospective characterisation of adverse effects - including baseline musculoskeletal symptoms - has not previously been performed in children.</p><p><strong>Methods: </strong>In this prospective, multicentre observational study, children and adolescents initiating intravenous bisphosphonate therapy at 10 tertiary centres were enrolled. Baseline assessments included diagnosis, fracture history, and patient/proxy-reported pain, fatigue, mobility, and well-being. Acute-phase reactions within days after the first infusion, and symptom scores at 6-8 weeks were obtained by structured telephone interviews and analysed using multivariable models adjusted for age, sex, and diagnostic subgroup.</p><p><strong>Results: </strong>A total of 139 children and adolescents (mean age 9.8 years, 37% female) were included across a spectrum of primary and secondary bone disorders, of whom 83% had a history of fractures. Acute-phase reaction rates varied substantially between diagnostic subgroups: febrile episodes were most frequent in children with inflammatory conditions (71.4%) and OI type III/IV (59.1%) but lowest in OI type I (29.2%), with a comparable pattern for nausea (57.1% vs 22.7% vs 20.8%). Across the cohort, all four symptom domains improved significantly at 6-8 weeks after treatment (p<0.05), with the greatest improvements in patients with inflammatory conditions and those with the highest baseline burden. In zoledronate‑treated children, nausea showed a clear dose relationship and did not occur below 0.02 mg/kg.</p><p><strong>Conclusions: </strong>This prospective, multicentre study demonstrates clinically relevant variability in both acute-phase reactions and treatment response following bisphosphonate treatment initiation in a large cohort of children with bone conditions. Recognition of subgroup‑dependent risk and benefits, and the dose‑dependent occurrence of nausea with zoledronate, supports dose-adapted initiation protocols, particularly for high‑risk groups such as children with inflammatory bone conditions.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sustained Glycemic Outcomes in Children: A Three-Year Real-World Follow-Up of the MiniMed™ 780G System.","authors":"Jessica Cardin, Maria Joanna Juachon, Benedikt Völker, Javier Castañeda, John Shin, Tim van den Heuvel, Robert Vigersky, Jennifer McVean","doi":"10.1159/hrp/adaag038","DOIUrl":"https://doi.org/10.1159/hrp/adaag038","url":null,"abstract":"<p><p>Introduction Automated insulin delivery systems have shown promise in bridging the gap between achieving international glycemic targets and the burden associated with achieving such outcomes. This is especially important in children and adolescents wherein addressing dysglycemia early can reduce long-term complications and mitigate cognitive impacts. This study presents the first real-world 3-year evaluation of the MiniMed™ 780G system in the global pediatric population, assessing long-term glycemic outcomes and user burden. Methods 'Carelink Personal' data from January 1,2020 to October 31,2025 were extracted from global MiniMed™ users aged ≤15 years with type 1 diabetes. Users had ≥10 days of sensor data before automation and in each of the 36 months post-advanced hybrid closed loop (AHCL) initiation. Endpoints were based on glycemic control, system use and insulin delivery type. User burden was defined as the percentage of insulin delivered by the user versus automatically by the system. Results Among 1,699 children, time in range (TIR 70-180 mg/dL) and time in tight range (TITR 70-140 mg/dL) increased immediately and remained elevated at 36 months (TIR increased from 64.1% to 73.6% at study end). TITR increased to 52.3% one month after SmartGuard™ initiation and experienced minimal changes throughout the study period. Time below range <70 mg/dL remained low, even as the proportion of insulin delivered automatically by the system increased. While the average grams of carbohydrates entered increased in growing children, the number of carb entries per day decreased. Time in automated mode remained consistently above 96%. From month 24 to 36 (the third year of use), TIR changed by +0.21 percentage points (P=0.1891) and GMI by +0.01 percentage points (P=0.1580). Conclusion In this three-year real-world analysis, glycemic improvements previously demonstrated following MiniMed™ 780G initiation were sustained through the third year of use, with consistently high automated mode use and an increasing proportion of insulin delivered automatically. The shift toward greater system-initiated insulin delivery suggests a reduction in burden for children and caregivers. These findings support the goal of automated insulin delivery systems, which is to improve glycemic control while minimizing daily management effort.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The transient pubertal free thyroxine dip should not be misinterpreted as central hypothyroidism: a case series.","authors":"Mark Robert-Jan Garrelfs, Jacquelien Hillebrand, Annemieke C Heijboer, Christiaan F Mooij, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala","doi":"10.1159/hrp/adaag031","DOIUrl":"https://doi.org/10.1159/hrp/adaag031","url":null,"abstract":"<p><p>During 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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Pilot Clinical Evaluation of DiaBuddy, a Point-of-Care Decision Support Tool for Children and Adolescents with Insulin-Treated Diabetes.","authors":"Alapan Mahapatra, Sandeep Paimode, Sayan Banerjee, Prashant Shukla, Nimisha Sachan, Vibha Yadav, Anurag Bajpai","doi":"10.1159/hrp/adaag032","DOIUrl":"https://doi.org/10.1159/hrp/adaag032","url":null,"abstract":"<p><p>Background - 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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal and parental anxiety levels before and after the child's seroconversion to islet autoimmunity.","authors":"Jessica Melin, Marlena Maziarz, Ezio Bonifacio, Kristina Casteels, Janne Houben, Olga Kordonouri, Karin Lange, Markus Lundgren, Thekla von dem Berge, Andreas Weiß, Christiane Winkler, Anette-Gabriele Ziegler, Helena Elding Larsson","doi":"10.1159/hrp/adaag037","DOIUrl":"https://doi.org/10.1159/hrp/adaag037","url":null,"abstract":"<p><strong>Introduction: </strong>To investigate parental type 1 diabetes-related anxiety in response to genetic screening at birth and islet autoantibody test results in at-risk children participating in the prevention study Primary Oral Insulin Trial (POInT).</p><p><strong>Methods: </strong>Children were screened at birth for genetic risk for type 1 diabetes and enrolled between 4-7 months of age in the POInT study. Parental anxiety regarding their child's risk of type 1 diabetes was measured by the State Anxiety Inventory (SAI) at 8-11, 18, and 36 months of age. Blood samples were analyzed for islet autoantibodies at each visit and results and information on risk of type 1 diabetes was communicated to the parents. Linear regression was used to investigate factors associated with anxiety.</p><p><strong>Results: </strong>Type 1 diabetes related anxiety was considered high among 58.5% of the mothers and 41.9% for the fathers when the child was between 8-11 months old, regardless of autoantibody status. Mean anxiety scores decreased over time among parents of children with negative autoantibody status. Receiving information about their child's positive islet autoantibody status increased parental anxiety and their anxiety scores remained high over time. Anxiety was also found to be associated with country of residence, having a first degree relative with type 1 diabetes, and parental study satisfaction for both mothers and fathers at all time-points. First degree relatives were more anxious than those from the general population and parents more satisfied with participation in the study were less anxious. Parents from Poland and Belgium were more anxious than parents from Germany and Sweden.</p><p><strong>Conclusion: </strong>Type 1 diabetes related anxiety is common among parents participating in genetic screening at birth and receiving information on high genetic risk after screening at birth, declining over time. Information on islet autoantibody positivity increases type 1 diabetes related anxiety. Having a first degree relative and being a mother increase the risk of anxiety, while fathers and parents satisfied with participation are less anxious. These findings emphasize the importance of close follow-up and individualized support of families with a child at high genetic risk for type 1 diabetes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Century of Growth Hormone from Pierre Marie (1886) to Creutzfeldt-Jakob Disease (1985).","authors":"Alan David Rogol","doi":"10.1159/hrp/adaag029","DOIUrl":"https://doi.org/10.1159/hrp/adaag029","url":null,"abstract":"<p><strong>Background: </strong>The 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.</p><p><strong>Summary: </strong>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.</p><p><strong>Key messages: </strong>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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149024685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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).","authors":"Carine de Beaufort, Steven James, Jill Weissberg-Benchell, Apoorva Gomber, Laura Cudizio, Nisa M Maruthur, Sarah Lyons, Frank Snoek, Sze May Ng, Aleksandra Araszkiewicz, Eva Hagström Toft","doi":"10.1159/hrp/adaag005","DOIUrl":"10.1159/hrp/adaag005","url":null,"abstract":"<p><p>Young 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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.","authors":"Shenali Anne Amaratunga, Martin Bezdicka, Tara Hussein Tayeb, Ondrej Soucek, Jan Lebl","doi":"10.1159/hrp/adaag023","DOIUrl":"https://doi.org/10.1159/hrp/adaag023","url":null,"abstract":"<p><p>Introduction 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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}