Hormone Research in Paediatrics最新文献

{"title":"LMS Parameter Errors in Noonan Syndrome Growth Charts.","authors":"Joseph H Chou","doi":"10.1159/000552951","DOIUrl":"10.1159/000552951","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":3.8,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217178","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":"Impact of Early Initiation of Automated Insulin Delivery on Glycemia Two Years from Type 1 Diabetes Diagnosis.","authors":"Michelle Van Name, Jennifer L Sherr, Colleen Bauza, Bruce A Buckingham, Gregory P Forlenza, Anna Neyman, Roy Beck, Ryan Bailey, Craig Kollman, Shannon Beasley, Erin Cobry, Lisa Norlander, Ryan McDonough, Emily K Sims, Linda A DiMeglio, Antoinette Moran","doi":"10.1159/000552649","DOIUrl":"10.1159/000552649","url":null,"abstract":"<p><strong>Introduction: </strong>Recently, our clinical trial of youth randomized shortly after type 1 diabetes (T1D) diagnosis to intensive diabetes management with automated insulin delivery (AID) reported mean time in range (TIR) of 78% at 52 weeks. This analysis investigated whether high TIR persisted over 104 weeks.</p><p><strong>Methods: </strong>Participants were initially randomly assigned to intensive care or a control group receiving standard care through 52 weeks. During this randomized period, the intensive care group was intensively managed with AID and frequent contacts and the control group used continuous glucose monitoring (CGM) with injections or pumps without AID. At 52 weeks, all participants could select their insulin delivery modality, and diabetes management returned to clinical teams. This secondary analysis compared TIR between groups in this observational extension phase (52- to 104-week post-diagnosis).</p><p><strong>Results: </strong>Thirty-nine of 61 RCT intensive care and 30 of 52 control participants enrolled in the extension and provided 104-week CGM data. Three RCT intensive care participants discontinued AID and 25 control participants initiated AID. From 52 to 104 weeks, mean %TIR remained stable (65% ± 21% to 65 ± 15%) in the RCT control group and declined in the RCT intensive care (79 ± 13% to 67 ± 15%) with no significant between-group difference at 104 weeks (mean difference 4% [95% CI: -5%, 13%], p = 0.72). Forty-nine percent of RCT intensive care and 40% of control participants had TIR >70% at 104 weeks (p = 0.73). Mean %time <54 mg/dL remained very low (<0.4%) in both groups at 104 weeks. Mean hemoglobin A1c was 6.7% ± 0.7 in the RCT intensive care group and 7.2% ± 1.5 in the controls at 104 weeks (mean difference -0.4 [-1.1, 0.4], p = 0.72).</p><p><strong>Conclusion: </strong>Very high mean TIR at 52 weeks in youth randomized to intensive care with AID soon after T1D diagnosis waned during the 52-week observation period after the randomized trial.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":3.8,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148156313","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":"Extension of the Phase 3 Trial of Somatrogon in Children with Growth Hormone Deficiency: 3 Years of Safety and Efficacy.","authors":"Renata Stawerska, John Choe, Ronnie Wang, Michael P Wajnrajch, José F Cara, Marc Thomas, Daria La Torre, Carrie T Taylor, Moshe Phillip, Joel Steelman, Cheri L Deal, Lawrence A Silverman","doi":"10.1159/000552183","DOIUrl":"10.1159/000552183","url":null,"abstract":"<p><strong>Introduction: </strong>Somatrogon is a once-weekly, long-acting growth hormone approved to treat children with growth hormone deficiency (GHD). This study evaluated the long-term efficacy and safety of once-weekly somatrogon in children with GHD following up to 3 years of treatment.</p><p><strong>Methods: </strong>During the 12-month main study, patients were randomized 1:1 to once-weekly somatrogon (0.66 mg/kg/week) or once-daily somatropin (0.24 mg/kg/week). Patients could then enter an open-label extension (OLE), wherein somatrogon-treated patients continued receiving somatrogon and somatropin-treated patients switched to somatrogon (0.66 mg/kg/week). Data to the end of the second year of the OLE (OLE year [Y] 2) are reported. Of the 222 patients who completed the main study, 212 entered OLE Y1 and 177 entered OLE Y2.</p><p><strong>Results: </strong>Mean (SD) height velocity (HV) was 8.11 (1.84) and 7.91 (1.84) cm/year at OLE Y1 and Y2, respectively. Mean (SD) height SD score (SDS) was -1.42 (0.90) and -0.95 (0.84) in OLE Y1 and Y2, respectively. In OLE Y1 and Y2, mean change in height SDS (ΔHSDS) was 1.36 and 1.61, respectively, and mean insulin-like growth factor I (IGF-I) SDS remained >1, confirming the efficacy of the treatment. Patients who switched from somatropin to somatrogon had similar HV, height SDS, and ΔHSDS to those who received somatrogon continuously. The incidence of adverse events (all causality) was 71.7% and 72.3% in OLE Y1 and Y2, respectively; most were mild or moderate in severity. Injection site pain and injection site erythema were the most commonly reported treatment-related adverse events in the OLE period. In OLE Y1 and Y2, up to one quarter of patients had IGF-I SDS >2 at two consecutive assessments, meeting protocol criteria for dose reduction.</p><p><strong>Conclusion: </strong>Following up to 3 years of somatrogon treatment, children with GHD showed a persistent increase in linear growth velocity compared to baseline. Somatrogon was well tolerated, with no new safety signals identified.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":3.8,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of Phentermine-Topiramate in Children Living with Duchenne Muscular Dystrophy.","authors":"Li-Min Chen, Po-Chih Shen, Philip Zeitler","doi":"10.1159/000552576","DOIUrl":"10.1159/000552576","url":null,"abstract":"<p><strong>Introduction: </strong>Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder associated with obesity due to low energy expenditure and high-dose corticosteroid treatment. Obesity significantly impacts quality of life in individuals with DMD and is consistently identified as a top family concern. Despite FDA approval of weight-loss medications for adolescents, including phentermine/topiramate (PHEN/TPM), there is limited evidence for their use in children with DMD, particularly regarding potential cardiac complications in a population already at elevated risk.</p><p><strong>Method: </strong>Individuals with a genetic diagnosis of DMD, who were prescribed PHEN/TPM from January 1, 2015, to April 25, 2025, were identified from the electronic medical record system of Children's Hospital Colorado (CHCO). A final cohort of six individuals treated for at least 6 months had clinic-obtained weights documented and were included in the analysis.</p><p><strong>Results: </strong>All patients were aged 9.9-16.9 years, with baseline weight 45-108.2 kg and BMI 29.5-39.7 kg/m2. Treatment duration ranged from 0.6 to 4.2 years. In the first year of therapy, median BMI decreased by 3.75 kg/m2 (interquartile ranges [IQRs]: -5.5 to -2.6), BMI standard deviation (SD) by 0.57 (IQR: -0.99 to -0.31), and weight SD by 0.73 (IQR: -1.17 to -0.59). Over the full treatment course (0.6-4.2 years), median annualized changes were BMI -1.73 kg/m2 (IQR: -2.93 to 0.17), BMI SD -0.31 (IQR: -0.44 to -0.15), and weight SD -0.30 (IQR: -0.70 to -0.11). Longitudinal analysis revealed significant nonlinear trends for BMI and BMI SD, with nadir effect by year two. Cardiac parameters showed initial transient heart rate increase (HR, median +13.5 bpm at 0.5 years) but no significant changes in longitudinal follow-up of HR, systolic blood pressure, diastolic blood pressure, or left ventricular ejection fraction. Two individuals developed kidney stones; other adverse events were mild to moderate.</p><p><strong>Conclusion: </strong>Treatment with PHEN/TPM in a small group of children with DMD and obesity was associated with clinically relevant reductions in measures of obesity and was generally well-tolerated with no significant adverse cardiac effects observed during extended follow-up. These findings support the potential use of PHEN/TPM as a weight management option in carefully selected individuals with DMD, though larger prospective studies are warranted.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":3.8,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972026","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 Presentation and Outcomes of Insulinomas in Pediatric Patients.","authors":"Lauren M Mitteer, Yesenia Sanchez-Kleinberg, Katherine Lord, Winifred Sigal, Lisa J States, Tricia R Bhatti, Robert J Gallop, Andrea Kelly, N Scott Adzick, Diva D De Leon","doi":"10.1159/000552145","DOIUrl":"10.1159/000552145","url":null,"abstract":"<p><strong>Introduction: </strong>Insulinomas are the leading cause of hyperinsulinemic hypoglycemia in adults, but they can also present during childhood, and, when they do, diagnosis and localization of the lesion can be difficult. Moreover, differentiating between congenital hyperinsulinism (HI) and pediatric insulinomas is challenging because both diseases have similar presentations. Our objective was to review the clinical presentation, diagnostic characteristics, and success of methods for localization, treatment, and outcomes in pediatric patients with insulinomas.</p><p><strong>Methods: </strong>Retrospective study of patients with confirmed insulinoma treated at a single academic pediatric hospital between 2006 and 2024. Descriptive statistics and logistic regression models were used to quantify the data and discriminate between groups, respectively. The optimal operating point (OOP) for diagnostic laboratory data was used to maximize discrimination between insulinomas and HI, with prediction accuracy determined by the sensitivity and specificity at the OOP.</p><p><strong>Results: </strong>We reviewed the records of 23 patients with insulinoma with a median age at presentation of 13 years. A positive family history of multiple endocrine neoplasia type 1 was recorded in 22%. The most common presenting symptom was altered mental status. Median plasma insulin and beta-hydroxybutyrate (BOHB) concentrations during hypoglycemia were 8.8 uIU/mL (61.1 pmol/L) and 0.3 mmol/L, respectively. Most patients had four imaging studies completed to localize their insulinoma. Twenty of the 23 patients reviewed had a single lesion successfully resected and were cured. Of these 20 patients, 12 had 18F-Fluoro-dihydroxyphenylalanine (18F-DOPA) positron emission tomography/computed tomography (PET/CT) completed, of which nine were positive (75%). Three patients had initial lesions localized and successfully resected but continued to have hypoglycemia requiring medical management. Median duration from presentation to surgery was 9 weeks. When comparing the critical samples of patients with insulinomas and HI, the combination of BOHB and insulin-like growth factor binding protein 1 at the time of hypoglycemia yielded a sensitivity and specificity of 0.89 and 0.84, respectively, for insulinoma versus HI when using a multivariate function on our cohorts.</p><p><strong>Conclusion: </strong>In this series, successful treatment of insulinomas took, on average, 9 weeks from diagnosis. Multiple imaging modalities were employed for preoperative lesion localization, with 18F-DOPA PET/CT and magnetic resonance imaging being the most successful. Improved imaging modalities are needed to localize insulinomas in pediatric patients and reduce the time between diagnosis and resection. We propose an algorithm to differentiate between pediatric insulinomas and congenital hyperinsulinism using laboratory data to quicken diagnosis and lessen time to treatment.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":3.8,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13240611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthcare Professionals' Experience with Routine Mental Health Screening in Pediatric Diabetes Care: Findings from a Global Survey.","authors":"Jess Forster, Lindsay Sawatsky, Samantha Berry, Kerrie Abel, Judy Craft, Olive James, Rebecca Barber, Claudia Piona, Agata Chobot, Laura Cudizio, Apoorva Gomber, Timothy Skinner, Agnieszka Lejk, Euan Preston, Vinathe Sharma-Brymer, Steven James","doi":"10.1159/000552500","DOIUrl":"10.1159/000552500","url":null,"abstract":"<p><strong>Introduction: </strong>Consensus guidelines recommend the use of age-appropriate and validated assessment tools to monitor and discuss psychosocial well-being and quality of life. Our study explored healthcare professionals' (HCPs) standardized psychological screening tool use and experiences discussing mental health concerns in pediatric diabetes care worldwide.</p><p><strong>Methods: </strong>Data were collected via a survey, using a research team developed, externally reviewed and piloted questionnaire (English and Portuguese), administered via Google Forms. Research team partners advertised the survey through their electronic newsletters, websites, and social media platforms.</p><p><strong>Results: </strong>Overall, 204 HCPs (90 physicians, 47 nurses, and 67 others) responded; covering 33 countries and 6 continents. Half (49%) indicated that their centers did not perform any psychological screening; 51% of those that did used standardized psychological screening tools. Most (69.1%) were confident discussing mental health concerns; those who were not detailed lack of time and resources and not wanting to cause offense. Some perceived depression (46.1%) and disordered eating (40.7%) screening should occur annually, and diabetes distress (40.7%) every 3 months. Few (2.9%) perceived psychological screening should not be undertaken.</p><p><strong>Conclusion: </strong>There is a need for increased focus on mental health screening and related support for HCPs, youth with diabetes, and, where applicable, their caregivers.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":3.8,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147947632","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":"Advancing toward Universal Newborn Screening for Congenital Adrenal Hyperplasia in Indonesia: A Nationwide Study on the Knowledge, Perspectives, and Experience of Pediatric Residents and Pediatricians.","authors":"Aman Pulungan, Helena A Puteri, Annisa N Insani, Diane E J Stafford, Jean-Pierre Chanoine, Agustini Utari","doi":"10.1159/000552279","DOIUrl":"10.1159/000552279","url":null,"abstract":"<p><strong>Introduction: </strong>With Indonesia introducing newborn screening (NBS) for congenital adrenal hyperplasia (CAH) in 2024, it is anticipated that the number of diagnosed CAH cases will rise. Therefore, it is crucial that healthcare professionals, especially pediatricians, are adequately prepared to diagnose and manage CAH. This study aimed to explore the knowledge, perspectives, and experiences of pediatric residents and pediatricians in Indonesia toward CAH.</p><p><strong>Methods: </strong>This is a cross-sectional study based on a newly developed electronic survey that was made available online and was disseminated during a national webinar conducted by Global Pediatric Endocrinology and Diabetes (GPED).</p><p><strong>Results: </strong>A total of 416 respondents consisting of 257 pediatric residents and 159 pediatricians participated in this study. Pediatric residents and pediatricians had similar levels of CAH knowledge. Significant factors affecting level of knowledge include age, number of cases managed, past experience in encountering CAH cases, and length of working as a pediatrician. The majority of respondents (77.6%) encountered a CAH case later during their residency. Only 15.1% of respondents felt that they had sufficient knowledge to manage CAH cases, and the majority of respondents expressed the need for more training to anticipate increased cases of CAH through NBS programs.</p><p><strong>Conclusion: </strong>As Indonesia advances toward universal NBS for CAH, the knowledge, training, and resource gaps identified in this study should be addressed. The preparedness of pediatricians to manage CAH must be placed as a priority to ensure that children diagnosed through NBS attain quality care.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":3.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837018","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":"Muscle Function and Bone Strength in Children and Adolescents with Tall Stature.","authors":"Klara Maliska-Maratova, Katerina Gregorova, Maciej Jaworski, Marketa Pavlikova, Ondrej Soucek, Stepanka Pruhova, Zdenek Sumnik","doi":"10.1159/000552378","DOIUrl":"10.1159/000552378","url":null,"abstract":"<p><strong>Introduction: </strong>Muscle functions are dependent on age, weight, and height. The question of how the muscle-bone unit is adapted for tall stature (TS) is yet to be elucidated. The aim of this study was to evaluate muscle functions and markers of bone strength in children and adolescents with TS.</p><p><strong>Methods: </strong>A total of 98 children and adolescents participated in the study and were divided into two groups: the TS group included 63 non-trained participants (mean age 13.4 ± 3.2 years, height Z-score 3.0 ± 0.7); the basketball players (BPs) group included 35 actively training BPs (mean age 16.8 ± 1.9 years, height Z-score 2.7 ± 0.4). Dynamic muscle functions - relative muscle power (P_max/mass) and force (F_max/body weight) - were assessed using jumping mechanography and compared between groups. Parameters of bone strength were assessed in the TS group using peripheral quantitative computed tomography and dual-energy X-ray absorptiometry (DXA).</p><p><strong>Results: </strong>Z-scores of P_max/mass and F_max/body weight were significantly decreased in the TS group compared with age- and sex-specific normative values (mean -1.28 ± 1.15; p < 0.001, and -1.10 ± 1.06; p < 0.001), but increased in the BP group (mean 0.99 ± 1.15; p < 0.001 and 0.64 ± 1.42; p < 0.05). Children in the TS group had decreased cortical bone mineral density (BMD) and cortical thickness (mean Z-scores -0.78 ± 1.0 and -0.57 ± 1.12; p < 0.001 for both). Trabecular BMD was normal (mean Z-score 0.31 ± 1.46; p = 0.14) and the stress-strain index was increased (1.93 ± 0.96; p < 0.001). Z-scores of lumbar spine BMD and whole-body bone mineral content (BMC) measured by DXA were increased (0.99 ± 1.22; p < 0.001; 1.81 ± 1.04; p < 0.001), whereas whole-body BMD was normal (0.19 ± 1.16; p = 0.24).</p><p><strong>Conclusion: </strong>Dynamic muscle functions relative to body mass are decreased in healthy untrained individuals with TS, unlike trained individuals with TS. Reduced mechanical stimulation may contribute to decreased cortical BMD and thickness at the tibia in this group.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":3.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13341086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.","authors":"Karine Aouchiche, Pauline Romanet, Théo Charnay, Anne Barlier, Catherine Roche, Solange Grunenwald, Lauriane Le Collen, Valérie Porques Bordes, Pascal Barat, Frederic Castinetti, Thierry Brue, Rachel Reynaud, Alexandru Saveanu","doi":"10.1159/000551700","DOIUrl":"10.1159/000551700","url":null,"abstract":"<p><strong>Introduction: </strong>Isolated growth hormone deficiency (IGHD) involves multiple genes, yet characterization of its mutational landscape and genotype-phenotype correlations remains limited. The aim of this study was to analyze a large cohort of patients with genetic IGHD and describe associated genotypes and phenotypes.</p><p><strong>Methods: </strong>Descriptive study of IGHD patients with an identified genetic cause was referred for targeted NGS panel analysis through the GENHYPOPIT network between 2017 and 2024, and complementary targeted family analysis.</p><p><strong>Results: </strong>Among 205 patients with IGHD, 23 (11.2%) had a pathogenic (P) or likely pathogenic (LP) variant. The average age at diagnosis was 3.9 years, and 47% of patients had pituitary hypoplasia. Seventy percent of variants were in GH secretion genes, 39% in GH1, mostly with autosomal dominant transmission, 13% in GHRHR, and 18% in GHSR, with autosomal dominant or recessive inheritance and incomplete penetrance. Variants in genes involved in pituitary development were rarer (30% of variants). The most commonly affected pituitary development gene was GLI2 (13%). GLI2 variants were always associated with pituitary stalk interruption syndrome. The remaining variants were in POU1F1 (9%), HESX1 (4%), and SOX3 (4%). We report 10 new P or LP variants. Family analyses (n = 30) broadened the genotype-phenotype correlation, identified de novo variants, as well as the first ever reported case of GH1 mosaicism.</p><p><strong>Conclusion: </strong>Our study broadens the spectrum of genetic variations associated with IGHD. In most cases, the implicated gene is involved in GH secretion, but our results highlight that IGHD can also be caused by genes involved in pituitary development. These findings confirm the importance of genetic analysis in IGHD, to improve patient management and genetic counselling.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-12"},"PeriodicalIF":3.8,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13290134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"US Adolescents of Asian Ethnicity Have Higher Risk of Polycystic Ovary Syndrome.","authors":"Anika S Naidu, Joan C Lo, Jeanne A Darbinian, Louise C Greenspan","doi":"10.1159/000552156","DOIUrl":"10.1159/000552156","url":null,"abstract":"<p><strong>Introduction: </strong>Polycystic ovary syndrome (PCOS) is an endocrine disorder that is rising in prevalence among adolescents, attributable in part to the obesity epidemic. PCOS disproportionately affects Asian females, including those without obesity. Given the higher burden of adolescent PCOS and heightened susceptibility in Asian populations, this study examines the prevalence of diagnosed PCOS by race/ethnicity in a contemporary, real-world population of US adolescents.</p><p><strong>Methods: </strong>We conducted a retrospective study of 126,861 female adolescents aged 13-17 years with well-child visits during 2021-2024 in a California healthcare system. The prevalence of diagnosed PCOS was reported overall and by body mass index (BMI) category. The odds of PCOS (odds ratio [OR], 95% confidence interval) by race/ethnicity was examined using logistic regression, adjusting for age, BMI category, and neighborhood deprivation index (NDI).</p><p><strong>Results: </strong>The prevalence of PCOS was 1.1% overall, ranging from 1.6 to 1.7% (Hispanic, Filipina, South Asian, and Native Hawaiian/Pacific Islander, NHPI), 1.3% (Vietnamese), 1.1% (Black), and 0.7-0.8% (White and Chinese). Prevalence of PCOS was 4.1% among those with obesity, ranging from 2.7 to 3.3% (White, Black, and NHPI), 4.8% (Hispanic), 5.7-6.2% (Chinese, Vietnamese, and South Asian), and 7.5% (Filipina). Adjusting for age, BMI category, and NDI quartile, Vietnamese (OR 3.0 [1.7-5.2]), South Asian (2.8 [2.0-3.9], Filipina (2.6 [2.0-3.4]), Chinese (1.8 [1.2-2.7]), and Hispanic (1.5 [1.3-1.7]) adolescents had higher odds of PCOS compared with White adolescents.</p><p><strong>Conclusion: </strong>Contemporary US adolescents of South Asian, Filipina, Vietnamese, and Chinese descent have about 2- to 3-fold higher adjusted odds of PCOS than White adolescents, and Hispanic females have 1.5-fold higher odds. These findings emphasize the importance of systematic surveillance in at-risk populations.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769698","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}