Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Hypertrophic cardiomyopathy as a novel phenotypic feature of <i>NSUN3</i>-related mitochondrial disease: a case report with review of the literature.","authors":"Ayşe Şenol Ersak, Tuğçe Çağıran, Ayşen Koçyiğit, Kısmet Çıkı, Yılmaz Yıldız, Ebru Aypar, Serap Ketenci İşlek, Pelin Özlem Şimşek Kiper, Göknur Haliloğlu, Ali Dursun","doi":"10.1515/jpem-2025-0578","DOIUrl":"10.1515/jpem-2025-0578","url":null,"abstract":"<p><strong>Objectives: </strong><i>NSUN3</i> encodes a mitochondrial RNA methyltransferase responsible for cytosine methylation at the tRNA wobble base, which plays a role in the regulation of mitochondrial translation. Variants in <i>NSUN3</i> lead to impaired oxidative phosphorylation resulting in multisystem involvement. Reported cases to date have described developmental delay, hypotonia, optic atrophy and neurological involvement. Cardiac manifestations, however, have not yet been clearly associated with <i>NSUN3</i> deficiency. Here, we report hypertrophic cardiomyopathy (HCM) as a new clinical feature and the long-term follow-up of our case, further expanding the phenotype of <i>NSUN3</i>-related disease.</p><p><strong>Case presentation: </strong>An 18-year-old girl was referred for visual loss, progressive fatigue, muscle weakness and HCM. Initial symptoms started as hypotonia in infancy and proceeded with developmental delay, reduced visual acuity and chest pain. At the age 15 years, she was diagnosed with HCM. Cardiac magnetic resonance imaging showed concentric left ventricular (LV) hypertrophy with septal thickness measuring up to 20 mm, LV ejection fraction was preserved (70 %). Whole exome sequencing identified a homozygous likely pathogenic variant in the NSUN3 gene: NM_022072.5: c.465dup (p.Gly156ArgfsTer6), for which both parents were found to be heterozygous carriers.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first reported case of <i>NSUN3</i>-related mitochondrial disease with HCM. An increasing number of reported cases will likely contribute to a more comprehensive understanding of the clinical phenotype and genotype-phenotype correlations.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"372-380"},"PeriodicalIF":1.0,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147274214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.","authors":"Alaa Baioumi, Karthik Darma, Lakshmi Selvarajan, Rachel Hamblin, Sarah Armstrong, Michal S Lionakis, Marion Roderick, Toby Candler","doi":"10.1515/jpem-2025-0522","DOIUrl":"10.1515/jpem-2025-0522","url":null,"abstract":"<p><strong>Objectives: </strong>Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multi-system autoimmune disorder caused by <i>AIRE</i> gene variants. Diagnosis can be challenging and often delayed. A specialised clinic for children and young people with APECED established in 2024 at Bristol Royal Hospital for Children, recruited patients from South-West England. We describe the diagnostic journey, disease progression and management challenges for 4 patients with APECED.</p><p><strong>Case presentation: </strong>All cases had a history of fungal nail infections and chronic mucocutaneous candidiasis preceding the development of endocrinopathy. Hypoparathyroidism was the most common endocrine presentation (n=3). Two patients had pancreatic exocrine dysfunction requiring pancreatic enzyme replacement. One patient had primary ovarian insufficiency (POI) aged 11. One female without evidence of POI was referred to fertility services to discuss fertility preservation. Immunomodulation was used in 2 patients; 1 received sirolimus, rituximab, corticosteroids, mycophenolate followed by ruxolitinib and 1 patient recently started ruxolitinib.</p><p><strong>Conclusions: </strong>Inter-speciality working is important to detect and manage a range of comorbidities as new immunomodulatory therapies that aim to prevent disease progression are emerging. Proactive screening for certain autoantibodies such as 21-OH can help predict patients at risk of certain endocrinopathies and may provide an opportunity for early intervention to prevent long-term morbidity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"396-405"},"PeriodicalIF":1.0,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146230422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Suboptimal adoption of diabetes technology despite coverage and the impact on glycemic outcomes in children and adolescents with type 1 diabetes in Hong Kong.","authors":"Sarah Wing-Yiu Poon, Kwong-Tat Chan, Betty Wai-Man But, Shirley Man-Yee Wong, Wing-In Yam, Pik-To Cheung, Wing-Shan See, Suk-Yan Chan, Ho-Chung Yau, Eunice Wai Yu Wong, Lap Ming Wong, Antony Chun-Cheung Fu, Elaine Yin-Wah Kwan, Janez Heung-Ching Tsui, Sin-Ting Lai, Priscilla Wai-Chee Lo, Yuen-Yu Lam, Hoi-Wing Yuen, Sammy Wai-Chun Wong, Jacky Ying-Ki Chung, Ching-Yin Lee, Ming-Kut Tay, Joanna Yuet-Ling Tung","doi":"10.1515/jpem-2025-0595","DOIUrl":"10.1515/jpem-2025-0595","url":null,"abstract":"<p><strong>Objectives: </strong>Despite proven benefits of diabetes technologies in children with type 1 diabetes (T1DM), utilization varies globally. In Hong Kong, continuous glucose monitoring system (CGMS) uptake was low (10.6 %) in 2018; however reimbursement programs have been implemented since then to enhance accessibility. This study examined trends in diabetes technology adoption and glycemic outcomes from 2018 to 2023.</p><p><strong>Methods: </strong>The Hong Kong Childhood Diabetes Registry prospectively collected standardized data on all children with diabetes at age ≤18 years in public hospitals since 2018, and those with follow-up data between 2018 and 2023 were included. Regular CGMS use was defined as >80 % usage/year. Outcomes included mean HbA_1c levels, incidence of diabetic ketoacidosis (DKA) and severe hypoglycemia. Clinical and psychosocial factors were compared between regular and non-regular CGMS users.</p><p><strong>Results: </strong>Mean HbA_1c significantly decreased from 8.3 % in 2018 to 8.0 % in 2023 (p<0.05), with fewer children having HbA_1c >9 % and a reduced rate of DKA. Regular CGMS use increased from 10.7 to 41.7 %, with highest adoption among school-aged children and lowest among adolescents. Compared to non-regular users, regular CGMS users demonstrated better glycemic outcome (mean HbA_1c 7.6 vs. 8.2 %, p<0.05). There were no significant differences in rates of micro/macrovascular complications or severe hypoglycemic events between the two groups.</p><p><strong>Conclusions: </strong>Despite improved glycemic outcomes and free access, CGMS adoption remained suboptimal in Hong Kong particularly among adolescents, indicating barriers beyond cost. Further research is needed to identify these barriers and develop targeted strategies to enhance technology use.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"251-257"},"PeriodicalIF":1.0,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146215564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel <i>CEP57</i> gene mutation in mosaic variegated aneuploidy syndrome 2: case report.","authors":"Cristina Pellicer Viudes, María Mansó Borrás, Susana Enrique Madrid, Berta Diago García, Armando Carlos Maruenda Jiménez, Paula Guzmán Tena, María Leticia Vázquez Álvarez, Victoria Cañadas Olmo, Dolores Tío Guillamón, María Amparo Edo Tena, Edurne Novella-Maestre, Purificación Marín Reina","doi":"10.1515/jpem-2025-0643","DOIUrl":"10.1515/jpem-2025-0643","url":null,"abstract":"<p><strong>Objectives: </strong>Mosaic variegated aneuploidy syndrome 2 (MVA2) is an uncommon autosomal recessive genetic condition caused by mutations in the <i>CEP57</i> gene. It is characterized by intrauterine growth restriction, severe short stature, facial dysmorphism, and skeletal abnormalities. Most affected individuals also show congenital cardiac defects and delayed development. To date, only 16 patients have been reported.</p><p><strong>Case presentation: </strong>We report a 6-year-old girl of consanguineous Moroccan parents, presenting with severe short stature, clinodactyly, and dysmorphic facial features including prominent forehead, triangular face, micro-retrognathia, and low set ears. Neurodevelopment was initially normal, but mild intellectual disability was then noted. Genetic testing including karyotype, array-CGH, and Silver-Russell syndrome were normal. Finally, whole exome sequencing revealed a homozygous c.834_844dupCAATGTTCAGC variant in <i>CEP57</i>, classified as likely pathogenic. Familial segregation confirmed heterozygosity in both parents and siblings.</p><p><strong>Conclusions: </strong>This report describes a novel homozygous variant of <i>CEP57</i>, expanding the clinical and genetic spectrum of MVA2 syndrome. Although, karyotype should be firstly requested if MVA is suspected, whole exome sequencing is crucial. Growth hormone therapy shows limited response in this syndrome, and the association with cancer predisposition should be further studied.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"381-387"},"PeriodicalIF":1.0,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146208437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of adrenomedullin levels in adolescents with Hashimoto's thyroiditis: association with clinical and laboratory findings.","authors":"Nevin Cambaz Kurt, Zümrüt Kocabey Sütçü, Gülsen Şener, Hasan Önal","doi":"10.1515/jpem-2025-0515","DOIUrl":"10.1515/jpem-2025-0515","url":null,"abstract":"<p><strong>Objectives: </strong>Hashimoto thyroiditis (HT) is an autoimmune disorder that may be associated with systemic inflammation. Adrenomedullin (ADM) is a peptide known to be elevated in inflammatory conditions, but its role in pediatric HT has not been extensively studied. To investigate serum ADM levels and their relationship with clinical and laboratory parameters in adolescents with HT.</p><p><strong>Methods: </strong>This cross-sectional study included 46 adolescents with HT and 41 age-, sex-, and BMI-matched healthy controls. Serum ADM, thyroid function tests, anti-thyroid antibodies, IL-6, and CRP levels were measured. Clinical features including goiter and symptom status were recorded. Correlation and multivariate logistic regression analyses were performed to evaluate associations and predictive factors.</p><p><strong>Results: </strong>ADM levels were significantly higher in the HT group than in controls (p=0.016). TSH, anti-TPO, anti-TG, and IL-6 levels were also elevated, while free T4 and CRP did not differ significantly. ADM correlated with TSH and thyroid functional status but not with IL-6 or CRP. Goiter was present in 28 % of patients, with all patients with goiter showing elevated ADM. Multivariate analysis identified TSH, free T4, and ADM as significant predictors of HT. Receiver operating characteristic analysis showed moderate diagnostic performance for ADM (AUC=0.651).</p><p><strong>Conclusions: </strong>Serum adrenomedullin levels were elevated in adolescents with Hashimoto thyroiditis compared with matched controls and were associated with thyroid dysfunction and local inflammatory activity. Although ADM showed only moderate diagnostic performance, this exploratory first study in pediatric HT suggests a potential role in disease pathophysiology and warrants confirmation in larger prospective cohort studies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"265-272"},"PeriodicalIF":1.0,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146208603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of eating behaviour on craniopharyngioma-associated obesity.","authors":"Danielle Eddy, Rebecca L Elsworth, Toby Philip Candler, Nimra Naeem, Sophie Szymkowiak, Rachel Perry, Blandine Gatta-Cherifi, Elizabeth Clare Crowne, Elanor C Hinton","doi":"10.1515/jpem-2025-0589","DOIUrl":"10.1515/jpem-2025-0589","url":null,"abstract":"<p><p>Craniopharyngiomas are low-grade suprasellar intracranial tumours associated with hypothalamic-pituitary axis dysfunction and obesity. This scoping review aimed to explore the potential impact of hyperphagic eating behaviour and appetitive factors on the development of craniopharyngioma-associated obesity and to identify areas for future intervention. PRISMA-ScR and JBI methodology was followed. Five databases and two trial registries were searched. All published studies of patients with childhood or adult-onset craniopharyngioma that addressed eating behaviours in conjunction with pharmaceutical/surgical interventions, neuroimaging, endocrine responses, energy expenditure, sleep and/or neuropsychology were included in this review. Evidence surrounding eating behaviours in craniopharyngioma patients was sparce with only 10 of the 50 included papers using validated eating behaviour assessments. Eating behaviour was included as a primary outcome (n=7), secondary outcome (n=12) or commented on without formal measurement (n=31). Few studies included patients with adult-onset craniopharyngioma (n=8) or compared patients with craniopharyngioma with and without obesity (n=2), and no papers were identified that attempted to modify eating behaviours as an intervention for craniopharyngioma-related obesity. Further understanding of eating behaviour in craniopharyngioma patients through longer-term research with validated measures will improve our understanding of mechanisms underlying craniopharyngioma-associated obesity and inform clinical practice by allowing treatments tailored for patient-centred care.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"217-235"},"PeriodicalIF":1.0,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Customized birth weight percentiles for identification of SGA short statue.","authors":"Corinna Melanie Held, Andreas Krebs, Dirk Manfred Olbertz, Niels Rochow, Manfred Voigt, Karl Otfried Schwab","doi":"10.1515/jpem-2025-0548","DOIUrl":"10.1515/jpem-2025-0548","url":null,"abstract":"<p><strong>Objectives: </strong>About 10-15 % of small for gestational age (SGA) children have persistent short stature (SGA-SS) and may benefit from growth hormone therapy. Customized percentiles that consider maternal height and weight, among other factors, appear to more accurately identify pathologically small newborns at higher risk of perinatal morbidity. We aim to determine whether the consideration of maternal height and weight in definition of SGA has an impact on the frequency of SGA-SS diagnosis and potential therapy.</p><p><strong>Methods: </strong>Birth data of 1321 infants with a gestational age of ≥30 weeks of gestation were analyzed using both conventional percentiles and customized birth weight percentiles, the latter incorporating maternal height and weight. Growth data at 2 and 4 years of age were analyzed for the presence of persistent short stature (SGA-SS) in infants born SGA.</p><p><strong>Results: </strong>Using the conventional birth weight percentiles, 129 (9.8 %) newborns are classified as SGA compared to 158 (11.9 %) using the customized percentiles. Forty-one infants of high-weight mothers were identified using only the customized classification. Twelve infants born to low-weight mothers were identified by conventional classification only. At 2 and 4 years of age, seven children had persistent short stature. The diagnosis of SGA-SS differed in only one case between the conventional and customized birth weight percentiles.</p><p><strong>Conclusions: </strong>Customized percentiles classify more children as SGA based on their birth weight but do not appear to identify more children with postnatal growth failure than do conventional percentiles.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"244-250"},"PeriodicalIF":1.0,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146109545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Berardinelli-Seip congenital lipodystrophy type-2: a case series of three Indian children.","authors":"Surbhi Gyani, Mithila Das Mazumder, Medha Mittal, Swati Dokania, Anuradha Rai, Prabhakar Bindhu, Seema Kapoor","doi":"10.1515/jpem-2025-0514","DOIUrl":"10.1515/jpem-2025-0514","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital generalised lipodystrophies (CGL) are a group of rare genetic disorders characterised by absence of adipose tissue and disturbances in lipid and carbohydrate metabolism. These disorders are characterised by distinct muscular phenotype with acromegaloid features, acanthosis nigricans and hepatomegaly. Metabolic disturbances lead to long-term complications such as diabetes, metabolic fatty liver disease, pancreatitis and cardiovascular disease. To highlight the clinical features and diagnostic approach towards lipodystrophies through the presentation of three Indian children with classical phenotypic and biochemical features.</p><p><strong>Case presentation: </strong>Three Indian children (two siblings and one unrelated child), all born to non-consanguineous parents with uneventful perinatal histories, presented with progressive abdominal distension and developmental delay. Clinical examination showed generalised loss of subcutaneous fat, muscular habitus, acanthosis nigricans, and hepatosplenomegaly. Laboratory investigations revealed elevated transaminases and hypertriglyceridaemia. Ultrasonography showed hepatomegaly with fatty liver changes. Exome sequencing confirmed presence of variants consistent with the diagnosis of CGL. Though metreleptin was not available, diet modification and increased physical activity were initiated along with lipid lowering drugs which have helped to improve the dyslipidaemia in the siblings.</p><p><strong>Conclusions: </strong>CGL is a rare but distinct disorder that should be considered in children presenting with generalised muscularity, hepatomegaly, and metabolic abnormalities.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"406-413"},"PeriodicalIF":1.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146088857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Meier-Gorlin syndrome due to a recurrent <i>DONSON</i> variant in a Turkish family: first report of thumb aplasia and long-term growth data.","authors":"Abdullah Sezer, Fatma Zehra Yalçın, Abdulkerim Kolkıran, Semra Çetinkaya","doi":"10.1515/jpem-2025-0470","DOIUrl":"10.1515/jpem-2025-0470","url":null,"abstract":"<p><strong>Objectives: </strong>Meier-Gorlin syndrome (MGORS) is a rare primordial dwarfism characterized by microtia, patellar hypoplasia/aplasia, and short stature. Additional features may include skeletal, respiratory, urogenital, and endocrine abnormalities. 13 genes have been implicated, with <i>DONSON</i>, essential for replication fork stability and intra-S phase checkpoint activation, being the most recently identified. Only six patients with <i>DONSON</i>-related MGORS have been reported. This study expands the phenotype by presenting long-term follow-up and prenatal data in two affected siblings.</p><p><strong>Case presentation: </strong>The index patient, a 10-year-old male, had short stature, microcephaly, microtia, craniofacial features, hearing loss, patellar aplasia, and genitourinary anomalies. Despite an early growth delay, his height progressively improved without intervention. Whole-exome sequencing revealed a homozygous pathogenic c.631C>T p.(Arg211Cys) variant in <i>DONSON</i> (NM_017613.3). Following genetic counseling, the family declined prenatal testing in a subsequent pregnancy complicated by intrauterine growth restriction. The newborn female sibling carried the same variant and displayed <i>DONSON</i>-related MGORS features, including the first reported case of thumb aplasia. Additional findings in the family included renal hypoplasia, 2-4 toe syndactyly, and hypospadias.</p><p><strong>Conclusions: </strong>This is the third report of <i>DONSON</i> c.631C>T p.(Arg211Cys) in Turkish patients. While the recurrence in the same population suggests a founder effect, haplotype-based analysis is required. Thumb aplasia expands the known phenotype of <i>DONSON</i>-related MGORS, and the observed moderate course of growth retardation offers prognostic value. These findings highlight the importance of including <i>DONSON</i> in MGORS gene panels, considering population-specific variants, and systematically documenting rare phenotypic features to improve diagnosis, follow-up, and genetic counseling.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"388-395"},"PeriodicalIF":1.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146088854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy, adherence, and cost-efficiency of three growth hormone treatment strategies in children with idiopathic short stature: a retrospective cohort study.","authors":"Li Jie, Li Bo, Chen Lina, Chen Libin, He Li, Liang Yan","doi":"10.1515/jpem-2025-0573","DOIUrl":"10.1515/jpem-2025-0573","url":null,"abstract":"<p><strong>Objectives: </strong>The study compares the efficacy, adherence, and cost-effectiveness of three recombinant human growth hormone (rhGH) regimens in children with idiopathic short stature (ISS) to optimize treatments.</p><p><strong>Methods: </strong>This retrospective cohort study involved 105 children with ISS who were divided into three groups: short-acting rhGH for 48 weeks (Group 1), PEG-rhGH for 48 weeks (Group 2), and sequential therapy (PEG-rhGH for 24 weeks + short-acting rhGH for 24 weeks) (Group 3). The primary endpoints were the annual changes in the height standard deviation score (ΔHtSDS) and height velocity (HV). Adherence was measured by the missed injection rate (%), and the cost-effectiveness analysis employed the cost-effectiveness ratio.</p><p><strong>Results: </strong>After one year, all regimens improved HtSDS and HV (p<0.05), with Groups 2 and 3 showing better HV and ΔHtSDS than Group 1. Group 2 had the highest adherence (0 % missed rate), followed by Group 3 (0.14 %) and Group 1 (0.27 %). Missed injections were the only significant predictor of ΔHtSDS (β=-0.196, p=0.048). Financially, Group 3 had lower costs (¥64,730) and a better cost-effectiveness ratio than Group 2 (¥67,479). No serious adverse events occurred.</p><p><strong>Conclusions: </strong>Sequential therapy offers efficacy and compliance benefits for long-acting rhGH while lowering costs, thus making it suitable for ISS treatment. Long-acting therapy is ideal for individuals with the financial means to support such treatment, whereas short-acting therapy is an option for individuals facing budgetary constraints. Future research should include longer follow-up and quality-of-life (QoL) assessments to improve the cost-benefit analysis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"236-243"},"PeriodicalIF":1.0,"publicationDate":"2026-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}