Hormone Research in Paediatrics最新文献

{"title":"Real-world growth outcomes and safety of vosoritide in children with achondroplasia: a Brazilian single center 24 monhts experience.","authors":"Ana Paula Neves Bordallo, José Gregorio Dominguez Alfonso, Juan Llerena, Tatiana Sa Pacheco Carneiro Magalhaes, Henrique Botti, Dafne Dain Gandelman Horovitz, Paulo Ferrez Collett-Solberg","doi":"10.1159/000553585","DOIUrl":"10.1159/000553585","url":null,"abstract":"<p><strong>Introduction: </strong>To evaluate the longitudinal effects of vosoritide on growth, body proportionality, and safety in children with achondroplasia in a real-world clinical setting, and to identify early predictors of treatment response.</p><p><strong>Methods: </strong>We conducted a hybrid retrospective-prospective observational study in children with achondroplasia treated with vosoritide at a single tertiary center. Pre-treatment clinical and anthropometric data were collected retrospectively and prospectively. Prospectively patients were evaluated at baseline and after 12 and 24 months on treatment. Growth was assessed using height SDS, based on both WHO and achondroplasia-specific reference charts, as well as annualized height velocity Z-scores (HV SDS). Body proportionality was evaluated using the height/(height - sitting height) ratio. Longitudinal changes were analyzed using linear mixed-effects models, and potential predictors of response were explored using correlation and regression analyses.</p><p><strong>Results: </strong>Thirty-five children (mean age 5.92 ± 3.56 years) were included. Height velocity increased significantly at both 12 months (+1.50 SDS) and 24 months (+1.91 SDS) compared with baseline (p < 0.001). Using achondroplasia-specific references, height SDS increased over time, with a trend toward increment at 12 months (+0.17 SDS, p = 0.060) and a significant increase at 24 months (+0.50 SDS, p < 0.001). Similarly, WHO-based height SDS showed no significant change at 12 months and a significant increment at 24 months (+0.30 SDS, p = 0.005), suggesting a more gradual shift toward WHO standards. Body proportionality remained unchanged (p = 0.134). Height velocity increment during the first 12 months did not significantly predict height SDS gain at 24 months, highlighting inter-individual variability in treatment response. A significant age-by-time interaction was observed (p = 0.006), suggesting a differential longitudinal response according to age at treatment initiation. Hypertrichosis occurred in 66% of patients, but no severe adverse events were reported.</p><p><strong>Conclusion: </strong>Vosoritide increased linear growth in this real-world cohort, with heterogeneous response patterns over time. Height velocity increment during the first 12 months did not predict longer-term outcomes, and body proportionality remained unchanged over 24 months. Treatment was well tolerated, supporting its use in clinical practice.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":3.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148548898","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":"Use of Teriparatide for Treatment of a 3-Year-Old Child with an Activating Calcium-Sensing Receptor Mutation.","authors":"Stephanie Christensen, Stephanie Crossen","doi":"10.1159/000553439","DOIUrl":"10.1159/000553439","url":null,"abstract":"<p><strong>Introduction: </strong>Calcium-sensing receptor (CaSR) variants are a rare cause of congenital hypoparathyroidism. Current standard treatment consists of calcitriol and calcium supplements, but this regimen increases the risk of kidney complications due to hypercalciuria.</p><p><strong>Case presentation: </strong>Here, we present the case of a toddler with an activating CaSR mutation and severe complications of calcium and calcitriol treatment, who exhibited significant clinical improvement after initiation of teriparatide, an injectable parathyroid hormone analog.</p><p><strong>Conclusion: </strong>Studies of teriparatide use in children have shown that it is well tolerated and efficacious for the long-term management of hypoparathyroidism. However, few studies have documented its use in toddlers.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":3.8,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148420713","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":"Screening and Monitoring for Presymptomatic Type 1 Diabetes: A Time for Action.","authors":"Emily K Sims, Chantal Mathieu, Anette-Gabriele Ziegler, Marian Rewers, Osagie Ebekozien, Daniel Agardh, Emanuele Bosi, Lucienne Chatenoud, Richard Oram, Sanjoy Dutta","doi":"10.1159/000552602","DOIUrl":"10.1159/000552602","url":null,"abstract":"<p><strong>Background: </strong>Historically, type 1 diabetes (T1D) has been diagnosed following symptoms of overt hyperglycemia. However, the autoimmune processes driving the progression of the disease start years prior to the appearance of symptomatic disease. Early stages of T1D can be detected by screening individuals, including young children, for islet autoantibodies.</p><p><strong>Summary: </strong>The goal of this review is to discuss the benefits of early detection for individuals with presymptomatic T1D as well as discuss barriers that currently prevent a more widespread implementation of screening programs. Early detection of T1D can reduce the occurrence and severity of complications associated with clinical onset of T1D, including life-threatening diabetic ketoacidosis. It also facilitates the use of approved novel therapeutics that can delay the progression to clinical T1D and allows individuals to participate in clinical trials for other disease-modifying therapies in development. Despite these benefits, there are knowledge gaps that should be addressed before screening can be implemented optimally in practice.</p><p><strong>Key messages: </strong>Diagnosis of presymptomatic stages of T1D offers several benefits to individuals and their caregivers. Given the multifaceted benefits screening can provide, this review offers expert perspective on the importance of adopting early-detection strategies to identify presymptomatic stages of T1D as part of clinical care.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-12"},"PeriodicalIF":3.8,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13489600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148420749","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":"Attitudes and Practices of Youth and Young Adults with Type 1 Diabetes toward Self-Adjustments of Insulin Pump Settings.","authors":"Keren Smuel-Zilberberg, Michal Yackobovitch-Gavan, Sari Krepel Volsky, Naama Fisch-Shvalb, Moshe Phillip, Revital Nimri","doi":"10.1159/000552958","DOIUrl":"10.1159/000552958","url":null,"abstract":"<p><strong>Introduction: </strong>Achieving and maintaining glucose levels within recommended target range in individuals with type 1 diabetes receiving insulin therapy requires frequent adjustments. However, routine clinic visits occur quarterly, and the extent and effectiveness of interim self-management among pediatric pump users remain insufficiently characterized. This study aimed to evaluate the frequency and practices of insulin pump self-adjustments among pediatric nonautomated pump users and to examine their association with glycemic outcomes.</p><p><strong>Methods: </strong>We conducted a cross-sectional retrospective survey at Schneider Children's Medical Center of Israel between January 2019 and January 2023. The survey included 15 questions assessing self-management behaviors, pump parameter modifications, and attitudes toward automated decision support.</p><p><strong>Results: </strong>Seventy-five children, adolescents, and young adults (56% female) completed the questionnaire, with a mean age of 15.5 ± 5.7 years, a median HbA1c of 7.5% (IQR 6.9, 8.6), and a median daily insulin dose of 0.76 units/kg (0.6, 0.9). Forty percent of participants reported never independently adjusting insulin doses between clinical encounters, and 33.3% reported doing so rarely (1-2 times yearly). Basal rate was the most frequently modified parameter (93.8%). Engagement in self-adjustment was associated with lower HbA1c levels, and greater adjustment frequency correlated with glucose levels closer to target (rs = -0.389, p < 0.001). Sixty-nine percent expressed willingness to use automated insulin adjustment recommendations.</p><p><strong>Conclusions: </strong>Independent insulin pump adjustments between clinic visits were associated with HbA1c levels closer to recommended targets. These findings underscore the importance of strengthening patient education and structured support for interim diabetes self-management. Decision support tools and proactive provider guidance between visits may facilitate sustained glycemic optimization.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":3.8,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148420744","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":"Growth Hormone Therapy in Children Born Small for Gestational Age with Persistent Short Stature: Lessons Learned from Real-World International Databases and Directions for Future Research.","authors":"Sona Samvelyan, S Faisal Ahmed, Malika Alimussina, Aneta Kodytkova, Barbora Jirova, Shenali Anne Amaratunga, Jan Lebl","doi":"10.1159/000553457","DOIUrl":"10.1159/000553457","url":null,"abstract":"<p><strong>Background: </strong>Children born small for gestational age (SGA) account for approximately 5% of the newborn population. Although most experience spontaneous catch-up growth during early childhood, up to 10% remain short beyond 2-4 years of age and are classified as having SGA with persistent short stature (SGA-SS). Recombinant human growth hormone (rhGH) has been approved for the treatment of SGA-SS for more than 2 decades, and numerous clinical trials and real-world observational studies have confirmed its efficacy in improving childhood growth and adult height. However, treatment response is highly variable and likely reflects the heterogeneous aetiology of SGA-SS, ranging from intrauterine environmental influences to genetic and epigenetic determinants of growth. Over the past 40 years, large international drug-specific registry programs (KIGS, GeNeSIS, NordiNet IOS, ANSWER, PATRO, NCGS, and ECOS) have provided invaluable data on the long-term safety and efficacy of individual rhGH therapies, including thousands of patients with SGA-SS and extended follow-up.</p><p><strong>Summary: </strong>Safety outcomes across registries consistently demonstrate a low incidence of serious adverse events, with no excess metabolic or oncological risk compared with background population rates. With the increasing availability of next-generation sequencing, genetic diagnoses can now be identified in a substantial proportion of children with SGA-SS, opening new avenues for stratified treatment approaches.</p><p><strong>Key messages: </strong>Future research should focus on defining genotype-specific growth responses, optimizing treatment regimens, and integrating next-generation patient databases such as GloBE-Reg to enhance long-term surveillance in the era of conventional and long-acting GH preparations.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":3.8,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13533479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148404541","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":"Sleep Health and Barriers in Adolescents with Type 1 Diabetes: A Mixed-Methods Study.","authors":"Erin C Cobry, Emily Fivekiller, Laura Pyle, Lisa J Meltzer, Sarah S Jaser, Kasserine Taylor, Cristy Geno Rasmussen, Bennett Stewart, R Paul Wadwa","doi":"10.1159/000553441","DOIUrl":"10.1159/000553441","url":null,"abstract":"<p><strong>Introduction: </strong>Sleep health is critical for physical and mental well-being, yet adolescents with type 1 diabetes (T1D) often experience sleep disruptions due to nocturnal glucose management, fear of hypoglycemia, and device alarms. Despite evidence linking poor sleep to adverse diabetes outcomes, sleep assessment is rarely integrated into routine care.</p><p><strong>Methods: </strong>This mixed-methods observational study evaluated sleep patterns and barriers to sleep in adolescents with T1D (ages 11-17 years) recruited from a pediatric diabetes clinic. Participants completed 7 days of actigraphy and sleep diaries, surveys assessing sleep and psychosocial factors, and diabetes device downloads. A subset completed qualitative interviews exploring sleep experiences and perceived facilitators and barriers. Quantitative analyses examined sleep duration, efficiency, and glycemic metrics; qualitative data were coded for themes.</p><p><strong>Results: </strong>Among 70 participants, 54% did not meet American Academy of Sleep Medicine recommendations for sleep duration. The mean actigraphic sleep duration was 7.1 ± 0.9 h, with older adolescents sleeping less than younger peers (p = 0.002). Lower sleep efficiency was observed in those not achieving sufficient sleep (p = 0.011). No significant differences in glycemic outcomes were found by sleep sufficiency. Qualitative interviews (n = 31) revealed school and extracurricular demands as the most common barriers, with diabetes-related factors (e.g., nocturnal alarms) contributing to awakenings. Most adolescents reported good perceived sleep quality but expressed interest in receiving recommendations to improve sleep health.</p><p><strong>Conclusions: </strong>Over half of adolescents with T1D fail to achieve recommended sleep duration, and qualitative findings highlight modifiable behavioral and diabetes-related barriers. Routine sleep screening and tailored interventions should be developed in efforts to address overall health in adolescents with T1D.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-14"},"PeriodicalIF":3.8,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148396649","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":"Circulating mRNA and miRNA Signatures Used as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Management.","authors":"Aneta M Gawlik-Starzyk, Michael Shmoish, Abdullah Bereket, Malgorzata Gabriela Wasniewska, Aleksandra Antosz, Kamila Magdalena Szeliga, Tarık Kırkgoz, Serap Turan, Tulay Guran, Tommaso Aversa, Domenico Corica, Stefan A Wudy, Michaela F Hartmann, Marta Sobalska-Kwapis, Dominik Strapagiel, Ze Apos Ev Hochberg","doi":"10.1159/000553090","DOIUrl":"10.1159/000553090","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict. The aim of the study was to explore the relationship between circulating miRNA and mRNA expression patterns and the individual response to simple LSM in pediatric obesity: (i) identification of specific miRNAs/mRNA associated with successful weight reduction following LSM and (ii) use of these associations to inform the development of more targeted and effective intervention strategies.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Out of 240 children with obesity (BMI &gt;97%) recruited to a prospective \"multi-OMICS\" study granted by ESPE Research Unit, 159 subjects (age 8-17 years, median 12.8 years; 45% females) finished 12 months (between visits V0-V12) of LSM obesity management at three clinical centers in Poland, Turkey, and Italy. From &gt;180 baseline clinical and laboratory variables, four prespecified key features at V0/before LSM (sex, age, severity of obesity, and steroid metabolome) and delta z-score BMI V12-V0 were used to stratify and select 50 representative samples for RNA-seq. We searched for circulating mRNA and miRNA capable of establishing the link with positive response to LSM defined by a decrease in z-score BMI (delta z score BMI V12-V0&lt;0, responders/RS). First, the candidate gene approach with previously documented STAT3, CORO1C, SERPINH1, MVP, ITGB5 (upregulated in obesity), PCM1, SIRT1, EEF1G, PTEN, and RPS2 (downregulated in obesity) hub genes was applied. The pairwise ratios of transcripts per million (TPMs) of these genes were tested for statistical significance between RS (n = 31) and non-RS (n = 19) groups. Second, the TPM expression values of 2,129 miRNAs and 33,246 RPL13A-normalized mRNAs were compared between RS and non-RS to get a list of putative significant genes (p &lt; 0.05; the Welch t test). Enrichr, a Web-based tool (&lt;ext-link ext-link-type=\"uri\" xlink:href=\"https://amp.pharm.mssm.edu/Enrichr\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"&gt;https://amp.pharm.mssm.edu/Enrichr&lt;/ext-link&gt;), was used for analyzing gene sets.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Expression values for 909 mRNA and 24 miRNA genes were significantly different between RS vs. non-RS. For example, STAT3/PTEN, CORO1C/PTEN, MVP/PTEN; miRNA-10a, miRNA-122, miRNA-127, miRNA-502, miRNA-210 were significantly higher and SIRT1/PTEN, EEF1G/PTEN, RPS2/PTEN, miRNA-27a were lower comparing RS vs. non-RS (p = 0.009, 0.022, 0.030, 0.048, 0.029, 0.045, 0.035, 0.020, 0.047, 0.04, 0.039, 0.029, respectively). Several pathways, including \"vitamin B6 metabolism\" and \"insulin receptor signaling,\" were enriched in our differentially expressed mRNA (p &lt; 0.001): PNPO, PHOSPHO2, PDXP, PSAT1 were upregulated in RS vs. non-RS. \"Leptin signaling pathway WP2034\" was enriched in STAT3 and PTEN (p &lt; 0.0001).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;The role of the balance between STAT3 and PTEN in LSM was discovered. The importance of previously described mi","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-17"},"PeriodicalIF":3.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148375545","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":"Functional Impact of a <i>Novel</i> Intronic <i>TG</i> Variant in Congenital Goiter and Thyroid Dyshormonogenesis.","authors":"Zehra Yavas Abalı, Esra Dirimtekin, Mehmet Eltan, Bilgen Bilge Geçkinli, Tuğba Kalaycı, Tugba Sarac Sivrikoz, Serap Turan, Zehra Oya Uyguner","doi":"10.1159/000553376","DOIUrl":"10.1159/000553376","url":null,"abstract":"<p><strong>Introduction: </strong>Thyroglobulin (TG) is essential for the biosynthesis of thyroid hormones. Biallelic pathogenic variants in the TG gene cause primary congenital hypothyroidism due to dyshormonogenesis, which often presents with congenital goiter. Here, we report a novel homozygous intronic TG variant, identified in a family with multiple cases of congenital goiter, and demonstrate its pathogenicity using cDNA sequencing.</p><p><strong>Case presentation: </strong>The proband, a 15.5-year-old male, presented with a thyroid nodule and had a history of congenital goiter. He had been treated with levothyroxine since birth. Serum TG concentration was markedly low. Thyroid ultrasound revealed diffuse heterogeneity and a solid nodule. Thyroidectomy was performed due to atypia of undetermined significance on fine-needle aspiration biopsy, and histopathological examination revealed adenomatoid hyperplasia. Analysis of the proband revealed a novel homozygous c.5686 + 3A>C variant in TG (NM_003235). In silico analysis predicted a splice-altering variant, and the variant was absent from gnomAD. Analysis of cDNA sequencing confirmed that this variant causes skipping of exon 30, leading to an in-frame deletion and presumably a nonfunctional TG protein. In a subsequent pregnancy evaluated during the course of this case, fetal goiter was identified and treated with intra-amniotic levothyroxine.</p><p><strong>Conclusion: </strong>This study reports a novel intronic TG variant causing aberrant splicing, thereby expanding the molecular spectrum of primary congenital hypothyroidism and emphasizing the importance of early genetic diagnosis for effective counseling and prevention of recurrence.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":3.8,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148360619","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":"Efficacy and Safety of Somapacitan versus Daily Growth Hormone in Children with Growth Hormone Deficiency: A Pooled Analysis of Randomised Trial Data.","authors":"Lars Sävendahl, Aristides K Maniatis, Alberto Pietropoli, Nicky Kelepouris, Michael Højby, Jean-Marc Ferran, Junfen Fu, Jun Mori, Martin Wabitsch, Bradley S Miller","doi":"10.1159/000553101","DOIUrl":"10.1159/000553101","url":null,"abstract":"<p><strong>Introduction: </strong>Several studies have individually suggested that somapacitan, a once-weekly growth hormone (GH) treatment, has similar efficacy and safety to once-daily GH in children with GH deficiency. Here, we assessed the efficacy and safety of somapacitan versus daily GH after 52 and 156 weeks of treatment using pooled data from the REAL 3, REAL 4, and REAL 6 trials.</p><p><strong>Methods: </strong>Participants receiving somapacitan 0.16 mg/kg/week or daily GH 0.034 mg/kg/day were included. Some participants switched from daily GH to somapacitan after 52 weeks of treatment, so data beyond week 52 were analysed separately. Outcomes, including height velocity (HV) and adverse events (AEs), were analysed by treatment group. An additional analysis was conducted in relation to puberty onset and Tanner stage.</p><p><strong>Results: </strong>At week 52, HV was similar in participants receiving somapacitan and those receiving daily GH. At week 156, mean (SD) HV (cm/year) was 7.5 (1.6) in participants who had always received somapacitan, 7.6 (2.0) in those who had always received daily GH, and 7.8 (1.4) in those who switched to somapacitan from daily GH. Most AEs were mild and unlikely to be treatment-related. HV remained stable for up to 130 weeks in pubertal children, and was similar across treatment groups and Tanner stages.</p><p><strong>Conclusions: </strong>In this pooled analysis of clinical trial data, somapacitan demonstrated similar efficacy and safety to daily GH for up to 156 weeks of treatment. A dose of 0.16 mg/kg/week of somapacitan was able to maintain consistent growth in children and adolescents who reached puberty.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-19"},"PeriodicalIF":3.8,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148328982","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":"Cerebral X-Linked Adrenoleukodystrophy Associated with Hemophilia A: A Case Report.","authors":"Gaetano Terrone, Simona Fecarotta, Paola Lorello, Nicola Improda, Marianna Alagia, Chiara Paolella, Mariacarolina Salerno, Donatella Capalbo","doi":"10.1159/000553076","DOIUrl":"10.1159/000553076","url":null,"abstract":"<p><strong>Introduction: </strong>The co-occurrence of hemophilia A and X-linked adrenoleukodystrophy (ALD) represents an exceptionally rare clinical scenario. Both the F8 and ABCD1 genes are situated at the Xq28 locus, a gene-dense region where independent pathogenic variants may co-segregate due to low recombination rates and the presence of mutational hotspots. We report a rare co-occurrence of distinct pathogenic variants in both genes in the same patient.</p><p><strong>Case presentation: </strong>A 12-year-old male with FVIII deficiency (hemophilia A), caused by a heterozygous c.3652delG variant in the F8 gene, presented with cutaneous hyperpigmentation, progressive cognitive decline, and behavioral issues including irritability and impulsivity. A first brain MRI revealed a leukodystrophic pattern over the posterior regions. Electroencephalogram revealed brief and sudden episodes of impaired consciousness associated with generalized epileptiform discharges consistent with absence seizures treated with lamotrigine. Given the presence of hyperpigmentation, adrenal function was tested revealing primary adrenal insufficiency. Adrenal autoantibodies were negative. Very-long-chain fatty acids were elevated, and molecular analysis revealed a pathogenic variant c.1978C>T in the ABCD1 gene, thus leading to a definitive diagnosis of cerebral ALD. Due to the severity and extent of MRI lesions at diagnosis (Loes score = 14), the patient was not eligible for hematopoietic stem cell transplantation; he received hydrocortisone and fludrocortisone replacement and supportive nutritional therapy. At last follow-up visit at 15 years of age, he presented with severe cognitive impairment, psychiatric issues, insomnia, neurological pyramidal signs, drug-resistant generalized epilepsy, and a Loes score of 23 at brain MRI.</p><p><strong>Conclusions: </strong>This case highlights the genetic vulnerability of the Xq28 locus and the possible co-occurrence of hemophilia A and ALD. Physicians should maintain a high index of clinical suspicion for ALD in males with known FVIII deficiency and cognitive signs or concomitant hyperpigmentation as early diagnosis is vital for life-saving therapeutic interventions.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":3.8,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148294679","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}