Hormone Research in Paediatrics最新文献

{"title":"Advancing Towards 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":"https://doi.org/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 aims to explore the knowledge, perspectives and experiences of pediatric residents and pediatricians in Indonesia towards 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 newborn screening 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":"1-19"},"PeriodicalIF":2.7,"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":"https://doi.org/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 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 tall stature.</p><p><strong>Methods: </strong>A total of 98 children and adolescents participated in the study and were divided into two groups: the tall stature (TS) group included 63 non-trained participants (mean age 13.4±3.2 years, height Z-score 3.0±0.7); the basketball players (BP) group included 35 actively training basketball players (mean age 16.8±1.9 years, height Z-score 2.7±0.4). Dynamic muscle functions-relative muscle power (Pmax/mass) and force (Fmax/body weight)-were assessed using jumping mechanography and compared between groups. Parameters of bone strength were assessed in the TS group using pQCT and DXA.</p><p><strong>Results: </strong>Z-scores of Pmax/mass and Fmax/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 (SSI) 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 tall stature, unlike trained individuals with tall stature. 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":"1-19"},"PeriodicalIF":2.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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":"https://doi.org/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 is 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 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":"1-16"},"PeriodicalIF":2.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"U.S. 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":"https://doi.org/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 U.S. 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 1.6-1.7% (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 2.7-3.3% (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 U.S. adolescents of South Asian, Filipina, Vietnamese, and Chinese descent have about 2-3-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":"1-10"},"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}

{"title":"Sex differences in pediatric and adolescent endocrinology - what are the origins?","authors":"Gerhard Binder, Desiree Dunstheimer, Bettina Gohlke, Sabine Heger, Thomas Reinehr, Annette Richter-Unruh, Joachim Woelfle, Achim Wüsthof","doi":"10.1159/000552184","DOIUrl":"https://doi.org/10.1159/000552184","url":null,"abstract":"<p><p>Background Endocrine disorders appear to be unevenly distributed between females and males in pediatric endocrinology. Summary This narrative review collects causes from nurture and nature that may contribute to these differences in prevalence. For this purpose, the scientific literature from 1990 to 2025 was evaluated using the keywords sex-specific difference, gender-specific difference, sex difference, gender difference in combination with the endocrine disorder being treated. Key Messages One identified reason for sex differences in pediatric and adolescent endocrinology is arbitrary thresholds regarding the timing of puberty, which may favor the diagnosis of precocious puberty in females. Another reason for sex differences appears to be the different severity of psychosocial stress, which may contribute to sex differences, with males more frequently diagnosed with delayed puberty and growth hormone deficiency. Possibly contributing biological factors include the different regulation of endocrine processes in both sexes, which imply lower or higher homeostatic stability. Such sex dimorphism of biology has been described for the regulation of GH and LH/FSH. Therefore, nature may have an additional impact on sex disparities in GHD and precocious puberty. Less convincing data on the influence of nature were available for delayed puberty. This review can aid physicians to critically review their individual clinical practice and refrain from prematurely diagnosing and treating healthy children when therapeutic interventions are not truly warranted. .</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":2.7,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769726","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":"Does Carbohydrate Counting from Diabetes Onset make a Difference to Glycemic Outcomes? A Swedish Registry Study.","authors":"Elisabeth Jelleryd, Carmel E Smart, Hans Järnbert-Petterson, Ulrika Käck, Anna-Lena Brorsson, Anna Lindholm-Olinder","doi":"10.1159/000552151","DOIUrl":"https://doi.org/10.1159/000552151","url":null,"abstract":"<p><p>Background Carbohydrate counting (CC) for calculating insulin for meals is recommended in type 1 diabetes to optimize the postprandial glycemic response. Few studies have studied the effect of CC on glycemic outcomes when introduced from diabetes diagnosis. Research aims To investigate if CC effects metabolic outcomes over time between individuals taught CC from diabetes onset and those who were not. A secondary aim was to examine if use of CC was associated with glycemic outcomes at eight years diabetes duration. Method This was a cohort study analysing pediatric data from the Swedish Diabetes Registry (NDR), comparing two groups with diabetes onset 2011-2013, where one was taught CC from diagnosis and the other group used fixed doses. HbA1c data was analysed from first year of diabetes up to eight years. A cross-sectional analysis at eight years diabetes duration, compared groups with reported use of CC to the NDR to examine the association with glycemic outcomes. Results There was no difference in HbA1c over time between the group taught CC from diagnosis (n=253) and those that were not (n=221) after adjusting for gender, age and insulin regimen (difference fixed-CC:1.0; 95% CI -0.8 to 2.9; p=0.27). The group using CC after eight years duration had significantly lower HbA1c than those not using CC (56.2 mmol/L vs 64.8 mmol/L p=<.001). Conclusions The results suggest that CC can be an effective in achieving target glycemic outcomes over time and support its introduction at any time in the life course to improve metabolic outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-18"},"PeriodicalIF":2.7,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770044","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":"Adrenocortical tumors in pediatrics beyond the classic presentation: A Case Series.","authors":"Elsa Dieterlen, Carine Villanueva, Sara Cabet, Grégoire Schneider, Cécile Picard, Marc Nicolino, Cecile Faure-Conter, Kevin Perge","doi":"10.1159/000552155","DOIUrl":"https://doi.org/10.1159/000552155","url":null,"abstract":"<p><p>Adrenocortical tumors (ACTs) are rare pediatric malignancies, typically presenting with signs of virilization or hypercortisolism. However, non-classical presentations may delay diagnosis and complicate management. Our study aimed to illustrate the diagnostic and therapeutic challenges posed by atypical forms of pediatric ACTs through a series of five diverse clinical cases. We report five cases of pediatric ACTs with unusual features: bilateral tumors, acute stroke due to hypertensive crisis, incidental discovery after trauma, misleading hormonal workup, or gradual onset of premature pubarche, and hemorrhagic lesion,. In two cases, the diagnosis was delayed due to initial absence of endocrine evaluation. One patient experienced tumor rupture following biopsy, leading to metastasis and death despite intensive treatment. Histopathological scoring (Wieneke score) was heterogeneous and did not always correlate with outcome. Two patients had underlying cancer predisposition syndromes (Li-Fraumeni and Beckwith-Wiedemann). This case series highlights the wide phenotypic variability of pediatric ACTs, which may mimic benign or unrelated conditions. Early recognition, systematic hormonal evaluation, and avoidance of biopsy are critical for improving prognosis. Multidisciplinary management is essential, and genetic screening should be systematically considered, even in the absence of suggestive personal or familial history.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-17"},"PeriodicalIF":2.7,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769967","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":"Preferences for (Dis)Continuing Growth Hormone Treatment at Mid-Puberty in Patients with Transient Idiopathic Isolated Growth Hormone Deficiency: A Qualitative Analysis.","authors":"Joeri Vliegenthart, Iris Vernooij, Eric J E van der Hijden, Stefan Schuiling, Edmond H H M Rings, Erica L T van den Akker, Danielle C M van der Kaay","doi":"10.1159/000552013","DOIUrl":"https://doi.org/10.1159/000552013","url":null,"abstract":"<p><p>Objective The SEENEZ GH trial found no difference in near adult height (NAH) between patients with isolated idiopathic growth hormone deficiency (IIGHD) who continued or discontinued recombinant human growth hormone (rhGH) at mid‑puberty after a sufficient GH retest. These findings support revising the guideline to recommend discontinuation for patients with a sufficient mid-pubertal retest result. To enable successful adaptation, insight into stakeholder preferences, perceived (dis)advantages, and factors influencing guideline implementation is crucial. Design A qualitative study based on 25 interviews involving 26 participants: patients with transient IIGHD, parents, healthcare professionals, and organizational employees. Methods Participants were asked to assume no clinical difference between (dis)continuing rhGH. Interviews combined a structured impact analysis tool with open‑ended questions. Results Patients and parents generally preferred rhGH continuation, mainly for reassurance and reduced uncertainty. Patients valued discontinuation for reducing injection‑related pain, whereas continuation aligned with personal treatment goals. Parents perceived rhGH continuation as reducing uncertainty. Healthcare professionals and organizational stakeholders favored discontinuation, citing cost‑effectiveness, reduced workload, and ethical concerns about overtreatment; lower healthcare costs were the main perceived advantage. Facilitators for guideline revision included positive communication, clear and timely information, and sufficient implementation resources. Barriers included old habits among clinicians, limited awareness of new evidence among stakeholders, and a lack of strong drivers for change. Conclusions Patients and parents favored continuing rhGH, whereas professionals and organizational stakeholders preferred discontinuation. Given comparable NAH outcomes after a sufficient mid‑pubertal GH retest, successful guideline revision requires clear communication, adequate resources, and involvement of patients and parents.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-16"},"PeriodicalIF":2.7,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769677","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":"Diabetic Kidney Disease Screening and Management Practices Amongst North American Pediatric Endocrinologists Caring for Youth with Type 2 Diabetes.","authors":"Paul M Ryan, Jill Hamilton, Elizabeth A C Sellers, Edgar Delbert, Melissa Del Vecchio, Carrie Costello, Kalie L Tommerdahl, Petter Bjornstad, Allison Dart, Brandy Wicklow","doi":"10.1159/000552027","DOIUrl":"https://doi.org/10.1159/000552027","url":null,"abstract":"<p><strong>Introduction: </strong>Assess current diabetic kidney disease (DKD) screening practices in adolescents with type 2 diabetes (T2D), identify the comfort level of pediatric endocrinologists in interpreting and treating kidney dysfunction, and investigate barriers and facilitators to implementation of estimated glomerular filtration rate (eGFR) as an adjunctive surveillance metric.</p><p><strong>Methods: </strong>An anonymous survey was distributed via email to North American pediatric endocrinologists.</p><p><strong>Results: </strong>115 pediatric endocrinologists (Canada, n=40, USA, n=75) with mean 12.4 (SD 10.3) years in practice, largely from tertiary care centers, completed the survey. Most respondents screen for DKD at T2D diagnosis and annually thereafter. Exposure to an electronic medical record screening prompt was associated with complete adherence. Random urine albumin-to-creatinine ratio was the most common test, while most respondents never ordered an eGFR for DKD surveillance. Discomfort with eGFR interpretation was common, with only one-quarter recognizing hyperfiltration as a clinical concern. Respondents would be more likely to use eGFR if it was externally validated, endorsed by a major society, or incorporated into clinical practice guidelines, with automated electronic medical record reporting as the preferred implementation method.</p><p><strong>Conclusion: </strong>Pediatric endocrinologists demonstrate fidelity to pediatric T2D DKD screening clinical practice guidelines; however, comfort with eGFR interpretation in this setting remains limited. .</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-15"},"PeriodicalIF":2.7,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716724","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":"Glucagon-like peptide-1 receptor agonists (GLP1RA) in the management of mitochondrial diabetes in an adolescent: A Case Report.","authors":"Eadaoin Hayes, Ann Nillsen, Peter W Rowe, Aris Siafarikas, Mary B Abraham","doi":"10.1159/000552014","DOIUrl":"https://doi.org/10.1159/000552014","url":null,"abstract":"<p><strong>Introduction: </strong>Mitochondrial diabetes is rare and typically treated with dietary intervention and oral hypoglycaemic agents. Most require insulin. Novel treatments are available but are not well-characterised.</p><p><strong>Presentation: </strong>A 16-year-old adolescent girl with a genetically confirmed diagnosis of MELAS due to a m.3243A>G presented with clinical and biochemical features of diabetes. She was successfully transitioned from subcutaneous insulin therapy to weekly GLP1RA monotherapy shortly after diagnosis of diabetes. Treatment with 0.25mg semaglutide SC weekly led to a reduction in HbA1c from 13.7% (126mmol/mol) to 5.6% (38mmol/mol) over a 7-month period. Insulin was completely ceased within 5 days of starting semaglutide. CGM data from a 5 month follow up period are presented, which demonstrate CGM data meeting glycaemic targets.</p><p><strong>Conclusion: </strong>Low-dose semaglutide 0.25mg sc weekly was efficacious and well tolerated without lactic acidosis. Use of GLP1RA could be considered a novel and effective treatment in the pharmacological management of paediatric mitochondrial diabetes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-16"},"PeriodicalIF":2.7,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716727","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}