Hormone Research in Paediatrics最新文献

{"title":"Early-Onset Monogenic Obesity Due to LEPR Deficiency: Fatal Outcome in childhood in the era of precision therapy.","authors":"Ummahan Tercan, Tugce Kandemir, Aslı Derya Kardelen, Nilay Bas Ikizoglu, Sukran Poyrazoglu, Feyza Darendeliler, Firdevs Bas, Melek Yildiz","doi":"10.1159/000551903","DOIUrl":"https://doi.org/10.1159/000551903","url":null,"abstract":"<p><strong>Introduction: </strong>Early-onset monogenic obesity due to leptin receptor (LEPR) deficiency is characterized by severe hyperphagia, rapid weight gain, and obesity related comorbidities, including obstructive sleep apnea syndrome (OSAS). Setmelanotide, a melanocortin-4 receptor agonist, is an approved targeted treatment for patients with LEPR deficiency. However, access to this treatment remains limited in many countries.</p><p><strong>Case presentation: </strong>A 20-month-old boy born to first-degree consanguineous parents was referred for severe obesity and hyperphagia. At presentation, his weight was 23.4 kg (+5.3 standard deviation score [SDS]), with a BMI of 34.0 kg/m² (+7.6 SDS). There were no dysmorphic features, developmental delay or clinical findings suggestive of syndromic obesity. Targeted LEPR sequencing identified a homozygous splice-site variant (c.1603+2T>C), previously detected in his similarly affected sibling. Both parents were heterozygous carriers. At 2.5 years, BMI reached 39.3 kg/m² (+6.7 SDS), and polysomnography confirmed severe obstructive sleep apnea syndrome (OSAS). Adenoidectomy was deferred due to anesthesia related risks associated with severe obesity and lack of an adequately equipped center. Following FDA approval of setmelanotide for children ≥2 years of age, a six-month court-approved authorization for compassionate use was obtained. However, the drug was not yet available when the patient died suddenly during sleep at 3 years and 9 months of age, with presumed OSAS related respiratory failure.</p><p><strong>Conclusion: </strong>This case highlights the fatal consequences of delayed access to precision therapy in rare monogenic forms of obesity, such as LEPR deficiency, despite early molecular diagnosis. It also provides insight into the natural history and long-term outcomes of affected patients.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.7,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716790","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":"Polish recommendations for the early detection of type 1 diabetes in the pediatric population - position statement of the Polish Society of Pediatric Endocrinology and Diabetology and the Pediatric Section of the Diabetes Poland 2026.","authors":"Agata Chobot, Artur Bossowski, Przemysława Jarosz-Chobot, Małgorzata Myśliwiec, Agnieszka Szadkowska, Agnieszka Szypowska, Mieczysław Walczak","doi":"10.1159/000551858","DOIUrl":"https://doi.org/10.1159/000551858","url":null,"abstract":"<p><p>Recent advances in the understanding of the natural history of type 1 diabetes (T1D), together with the availability of disease-modifying therapies, have fundamentally changed the rationale for early detection of this disease. Type 1 diabetes is a common autoimmune disorder with rapidly increasing incidence among Polish children, particularly in the youngest age groups, and is still frequently diagnosed at the stage of diabetic ketoacidosis (DKA), which carries significant short- and long-term morbidity. The document summarizes current evidence supporting screening based on the detection of islet autoantibodies (GADA, IA-2A, ZnT8A, and IAA), reviews international and national screening programs, and outlines the clinical, psychological, and economic benefits of early identification, including a marked reduction in DKA at diagnosis. Definitions of T1D stages, diagnostic criteria, and risks of progression are described, along with practical algorithms for confirmatory testing, referral, and follow-up. Particular attention is given to screening strategies in both high-risk groups and the general pediatric population, recommended ages for screening, and principles of longitudinal monitoring. These recommendations, developed by national experts, are intended to support the implementation of structured early-detection programs and to improve outcomes for children at risk of or living with preclinical T1D within the Polish healthcare system.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-26"},"PeriodicalIF":2.7,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716730","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":"Natural History of the Hyperinsulinism Hyperammonemia Syndrome - A Retrospective Review Incorporating Patient-centered Data.","authors":"Elizabeth Rosenfeld, Olivia Taylor, Lauren M Mitteer, Kara E Boodhansingh, Tai L S Pasquini, Julie Raskin, Deborah Rafferty, Paul S Thornton, Diva D De Leon","doi":"10.1159/000551535","DOIUrl":"10.1159/000551535","url":null,"abstract":"<p><strong>Introduction: </strong>The hyperinsulinism hyperammonemia (HI/HA) syndrome manifests with fasting and protein-induced hypoglycemia, hyperammonemia, and neurodevelopmental features including epilepsy. There is a paucity of information describing the natural history of the HI/HA syndrome.</p><p><strong>Methods: </strong>A retrospective review of patients with HI/HA syndrome evaluated at the Congenital Hyperinsulinism Centers at the Children's Hospital of Philadelphia or Cook Children's Medical Center or who contributed to the Congenital Hyperinsulinism International HI Global Registry (HIGR) was conducted to describe the natural history of the HI/HA syndrome with particular focus on treatment and neurodevelopmental outcomes.</p><p><strong>Results: </strong>A total of 66 patients (36 female) from the medical record review and 15 patients (7 female, 3 sex not reported) from HIGR were included. Median age at last follow-up was 13.1 years (IQR, 6.8-19.0 years) in the medical record cohort and median age at survey completion was 11.6 years (IQR, 5.5-18.0 years) among HIGR participants. Eighty percent of the medical record cohort and 82% of HIGR participants were treated with diazoxide and most continued treatment over the follow-up period. Epilepsy (29% of medical record cohort, 33% HIGR participants) and neurodevelopmental issues (64% medical record cohort, 73% HIGR participants) were common.</p><p><strong>Conclusions: </strong>Our findings underscore the importance of longitudinal endocrine and neuropsychological follow-up for patients with HI/HA syndrome and demonstrate the potential value of patient-driven registry data to address persistent knowledge gaps in the natural history of rare diseases.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-23"},"PeriodicalIF":2.7,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689553","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":"MKRN3 variants in central precocious puberty as an example of the complexity to classify missense variants in imprinted genes as pathogenic.","authors":"Clémence Delcour, Carole Harbulot, Leila Drira, Kathy Wagner Malher, Delphine Zenaty, George Gelwane, Dominique Simon, Mélanie Amouyal, Maryse Cartigny Maciejewski, Hélène Bony, Axelle Cauliez, Aurélie Donzeau, Rachel Reynaud, Catherine Brue Fabre, Isam Al-Amir Ahmad, Juliane Léger, Jean-Claude Carel, Nicolas de Roux","doi":"10.1159/000551859","DOIUrl":"https://doi.org/10.1159/000551859","url":null,"abstract":"<p><strong>Introduction: </strong>Makorin ring-finger protein 3 (MKRN3) is a maternally imprinted gene and variants of this gene have been associated with central precocious puberty (CPP). To date, the biochemical function of MKRN3 is still uncertain. The aim of this study was to assess ACMG criteria for pathogenic classification of missense variants of MKRN3 and to propose specific ACMG criteria for this gene.</p><p><strong>Materials and methods: </strong>MKRN3 missense variants from our cohort of CPP or the HGMD (considered as pathogenic) and gnomAD (considered as benign) databases were annotated by diverse in silico analysis tools. Performance of these tools was assessed by determining sensitivity, specificity, positive and negative predictive values. We then assessed the relevance of using amino-acid conservation between MKRN family proteins and the population constraint as additional criteria to annotate missense variants.</p><p><strong>Results: </strong>Usual in silico tools showed limited ability to distinguish the deleterious effect of pathogenic from benign variants. Analyses of amino-acid conservation between MKRN family proteins and population constraint facilitated characterization of the damaging effect of MKRN3 missense variants. Revised ACMG criteria expanding familial segregation, conservation within MKRN protein family, and population constraint allowed reclassification of several uncertain significant variants to likely pathogenic.</p><p><strong>Discussion: </strong>This study highlights the challenge involved in the classification of missense variants of a maternally imprinted gene. Expanding familial segregation over three generations, protein-family conservation, and population constraint improve accuracy of MKRN3 variants annotation in central precocious puberty.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-18"},"PeriodicalIF":2.7,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147638660","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":"Co-designing Peer Support Interventions for Adolescents with Type 1 Diabetes and their Caregivers: A novel integration of community-based participatory research and human-centred design thinking.","authors":"Sara Abdullah, Ethan Parikh, Ugonna Ofonagora, Cilia Mejia-Lancheros, Anne Pettigrew, Chelsea D Apos Silva, Daphne Lok, Delilah Ofosu-Barko, Elizabeth Mansfield, Dianne Fierheller, Ian S Zenlea","doi":"10.1159/000551646","DOIUrl":"https://doi.org/10.1159/000551646","url":null,"abstract":"<p><strong>Introduction: </strong>Despite technological advances, managing type 1 diabetes (T1D) and achieving a high quality of life remains challenging for adolescents. Their caregivers also experience anxiety, stress, and burnout from management responsibilities. Peer support is an approach to help alleviate these challenges, yet most interventions are not co-designed with lived experience and may not be culturally relevant or aligned with patient or caregiver priorities. This paper describes the application of human-centred design (HCD) and community-based participatory research (CBPR) to co-design peer support intervention prototypes for adolescents and young adults (AYAs) with T1D and their caregivers.</p><p><strong>Methods: </strong>The project unfolded in three stages: 1) Empathize and Define-AYAs with T1D and their caregivers created digital stories to share first-person narratives; 2) Ideate-a community event showcased the digital stories to diverse diabetes shareholders to generate and prioritize ideas for peer support interventions; 3) Prototype-a Hackathon brought together AYAs with T1D and caregivers to co-design peer support solutions based on priority ideas.</p><p><strong>Results: </strong>Seven AYAs and four caregiver digital stories were produced in stage 1. In stage 2, 52 unique ideas were generated at the community event and refined into six Hackathon challenge statements. In stage 3, six peer support prototypes were developed during the Hackathon, with the winning designs focusing on addressing diabetes-related stigma in schools and supporting caregivers of newly diagnosed youth.</p><p><strong>Conclusion: </strong>Integrating CBPR and HCD, alongside innovative co-design methods, can effectively center lived experience to generate actionable, community-informed peer support prototypes for adolescents with T1D and their caregivers.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-29"},"PeriodicalIF":2.7,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147638611","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 and Biochemical Monitoring of MCT8 Deficiency (Allan-Herndon-Dudley Syndrome) Across the Lifespan: Practical Considerations for Multidisciplinary Care.","authors":"Johannes W Dietrich, Evelyn Jelesch, Michaela Linder-Lucht, Thomas M K Völkl, Ilja Dubinski","doi":"10.1159/000551857","DOIUrl":"https://doi.org/10.1159/000551857","url":null,"abstract":"<p><p>Pathogenic mutations in the SLC16A2 gene can result in partial or complete loss of function of the critical and highly specific monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter. MCT8 deficiency (Allan-Herndon-Dudley syndrome) is a rare X-linked genetic disorder that causes profound neurodevelopmental delay, movement disorders, and peripheral thyrotoxicosis secondary to elevated serum triiodothyronine (T3). The condition is chronic and life-limiting, with patients requiring regular multidisciplinary monitoring to manage their symptoms. This guideline proposes a comprehensive, multidisciplinary management strategy for healthcare professionals caring for patients with MCT8 deficiency across all age groups, monitoring key symptoms and sequelae. It highlights the substantial heterogeneity in symptoms and long-term outcomes associated with the condition, underscoring the need for individualized patient care plans.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-23"},"PeriodicalIF":2.7,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147608737","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":"T1D GRS: a tool for identifying children and adolescents with monogenic diabetes.","authors":"Zuzana Dobiasova, Martina Skopkova, Miloslav Karhanek, Filip Gregus, Miroslav Sabo, Miroslava Huckova, Denisa Lobotkova, Kristina Podolakova, Emilia Jancova, Lubomir Barak, Daniela Gasperikova, Juraj Stanik","doi":"10.1159/000551615","DOIUrl":"https://doi.org/10.1159/000551615","url":null,"abstract":"<p><p>Introduction It is important to diagnose monogenic diabetes because gene-tailored treatment is available. In children and adolescents, monogenic diabetes must mostly be differentiated from Type 1 diabetes. People with Type 1 and monogenic diabetes have different genetic risks for Type 1 diabetes. This study evaluates the effectiveness of the Type 1 Diabetes Genetic Risk Score (T1D GRS) in prioritising children with newly diagnosed hyperglycaemia for monogenic diabetes genetic testing. Methods The T1D GRS2 and 10SNP GRS scores were assessed in 808 children and adolescents with newly diagnosed hyperglycaemia, 165 monogenic diabetes patients, and 24 healthy individuals. Genetic testing was performed in all autoantibody negative cases and cases with clinically unclassified diabetes. The usefulness of T1D GRS in prioritisation for genetic testing was evaluated retrospectively. Results Applying T1D GRS2 alongside negative autoantibodies tripled the pick-up rate, with only slight reduction in sensitivity (from 77.8% to 72.2%) compared to using autoantibodies alone. Most monogenic diabetes cases missed by this prioritisation had low levels of a single autoantibody and were likely false positives in autoantibody testing. While these monogenic cases not prioritised by GRS2 and autoantibodies were diagnosed based on clinical phenotype, two HNF1B-MODY cases were identified solely thanks to their low GRS2 scores. Conclusions Combining T1D GRS with autoantibody testing improves the efficiency of genetic testing by reducing unnecessary investigations while maintaining high sensitivity. When combined with clinical evaluation, this approach enables earlier and more targeted identification of candidates for monogenic diabetes testing.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-23"},"PeriodicalIF":2.7,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580637","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":"IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY IN BOYS: RESULTS FROM A NATIONAL PORTUGUESE COHORT.","authors":"Elisa Galo, Sofia Castro, Daniela Amaral, Filipa Espada, Carla Maria Dos Santos Silva Brandão, Ana Luísa Leite, Sofia Ferreira, Francisco Caetano, Brígida Robalo, Rita Cerqueira, Catarina Limbert","doi":"10.1159/000551720","DOIUrl":"https://doi.org/10.1159/000551720","url":null,"abstract":"<p><strong>Introduction: </strong>Central Precocious Puberty (CPP) is rare in boys, and idiopathic forms are particularly uncommon. This study characterizes the genetic architecture of idiopathic CPP (ICPP) in a national cohort of boys.</p><p><strong>Design and methods: </strong>We conducted a retrospective and prospective study of boys with ICPP recorded in the Portuguese national registry over the past 2 decades. Clinical, laboratory and demographic characteristics of the patients were reviewed. Whole exome sequencing (WES) was performed to identify pathogenic variants.</p><p><strong>Results: </strong>Of 736 children with CPP, 8.2% were males. Total CPP cases in boys increased significantly over time (p<0.001), particularly during COVID-19. While secondary CPP remained stable (p=0.198), idiopathic forms increased by 19.1%/year (p<0.001), with change points in 2011 and 2021. WES identified pathogenic MKRN3 variants in 13.3% (2/15) boys, including a novel variant (p.Asp267Asn). MKRN3-positive patients presented with later-onset puberty, though sample size limits definitive conclusions. WES also detected a clinically significant TP53 variant as an incidental finding.</p><p><strong>Conclusions: </strong>ICPP incidence in Portuguese boys increased significantly over two decades, with acceleration during the pandemic. While genetic causes (primarily MKRN3 variants) were identified in 13.3% of cases, the substantial proportion of unexplained cases and temporal clustering indicate important roles for environmental and epigenetic factors.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-21"},"PeriodicalIF":2.7,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580488","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":"Social Determinants of Health Impact on Pediatric Type 1 Diabetes Outcomes Early After Diagnosis.","authors":"Brittany Marks, Claire Hecklinger, Alexander Meyer, Joshua Reyling, Sophia E Linn, Kaitlin E Olson, Kristen Miller, G Todd Alonso","doi":"10.1159/000551650","DOIUrl":"10.1159/000551650","url":null,"abstract":"<p><strong>Introduction: </strong>Disparities in diabetes technology use and glycemic outcomes among US youth with type 1 diabetes (T1D) are strongly associated with race/ethnicity and insurance. The Social Deprivation Index (SDI) offers a multidimensional measure of area-level socioeconomic disadvantage linked to poorer health outcomes in pediatric populations.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study (1,541 youth < 19 years) newly diagnosed with T1D between 2018-2022 at a single tertiary care center. SDI was calculated from address and categorized into quintiles (Q1 least deprived). Primary outcomes included time to continuous glucose monitor (CGM) and insulin pump initiation, and hemoglobin A1c (A1c) over 12 months. Differences by SDI quintile were assessed using interval-censored Cox proportional hazards and linear mixed-effects models.</p><p><strong>Results: </strong>Within one year, 84% initiated CGM and 50% initiated pump therapy. Time to CGM initiation increased across SDI quintiles; patients in Q3-Q5 were significantly less likely to initiate CGM than Q1 (Q3 HR, 95% CI: 0.81, 0.66-0.99, p = 0.036; Q4 0.81, 0.67-0.98, p = 0.027; Q5 0.69, 0.56-0.86; p = 0.001). Hispanic, non-Hispanic Black, and Medicaid-insured patients had lower CGM uptake. Pump initiation was significantly lower only in Q5. Among CGM users, Q5 had higher A1c than Q1 (difference 0.80%, p = 0.001). Among non-pump users, Q4 and Q5 had higher A1c than Q1. AID users had lower A1c than pump-only users (7.0% vs 7.2%, p = 0.003).</p><p><strong>Conclusion: </strong>A1c is lower across all SDI levels with CGM use, but disparities persist. Addressing structural barriers is essential to achieving equity.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-16"},"PeriodicalIF":2.7,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147511819","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 Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.","authors":"Karine Aouchiche, Mirjam Dirlewanger, Mehul Dattani, Valerie Schwitzgebel, Sarah Castets","doi":"10.1159/000551549","DOIUrl":"https://doi.org/10.1159/000551549","url":null,"abstract":"<p><strong>Introduction: </strong>Pituitary duplication is a rare congenital malformation, with fewer than 80 cases reported in the literature. It is often associated with midline malformations but can also occur in isolation. Central precocious puberty (CPP) is the most common endocrinological manifestation, but to date this has only ever been reported in female patients.</p><p><strong>Case report: </strong>A 9-year-old boy presented with precocious puberty. His medical history was notable for ventricular septal defect. Physical examination showed Tanner stage P3 G2, a growth rate of 10 cm/year, and bone age of 12.5 years. A GnRH test confirmed CPP. Pituitary function was otherwise normal. MRI revealed ectopic pituitary duplication with two separate stalks, two ectopic posterior pituitary, tuberomammillary fusion, and vascular anomalies involving the basilar artery and vertebral vessels. The patient was treated with GnRH agonist therapy, which normalized growth and slowed bone maturation. Whole exome sequencing did not identify any pathogenic variants.</p><p><strong>Conclusion: </strong>This is the first reported case of CPP in a male with pituitary duplication. The findings highlight the need for awareness of endocrine dysfunction, including CPP, in patients with pituitary malformations. The gender disparity of CPP in pituitary duplication remains unexplained, and further research into genetic and molecular mechanisms, notably Sonic Hedgehog signaling, is required to understand this association.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-15"},"PeriodicalIF":2.7,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147490803","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}