Hormone Research in Paediatrics最新文献

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Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report. 沃索里肽治疗1型嗜盐性发育不良1例报告。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-10-10 DOI: 10.1159/000548836
Rodrigo Montero-Lopez, Alexandra Blaschitz, Katharina Karas, Tanja Fritz, Elisabeth Laurer, Uvistra Naidoo, Wolfgang Högler
{"title":"Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.","authors":"Rodrigo Montero-Lopez, Alexandra Blaschitz, Katharina Karas, Tanja Fritz, Elisabeth Laurer, Uvistra Naidoo, Wolfgang Högler","doi":"10.1159/000548836","DOIUrl":"https://doi.org/10.1159/000548836","url":null,"abstract":"<p><strong>Background: </strong>Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies. Vosoritide, a C-type natriuretic peptide analogue that counteracts FGFR3 overactivation, improves growth in achondroplasia, but its effects in TD1 remains unexplored.</p><p><strong>Methods: </strong>We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T). Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously, and increased to 30 µg/kg/day after 16 months. Growth velocity, anthropometry, pulmonary function, densitometry and safety were assessed longitudinally over 28 months.</p><p><strong>Results: </strong>At baseline, height was 78.6 cm (-10.9 SDS) and annual growth velocity (AGV) 1.6 cm/year (-4.7 SDS). After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm/year (+3 SDS from baseline). Lung vital capacity improved by 65%. Serial MRI demonstrated persistent severe foramen magnum stenosis without radiological progression. Adverse events were limited to transient injection‑site reactions and mild vasovagal episodes; no major safety concerns emerged.</p><p><strong>Conclusions: </strong>Vosoritide was well tolerated and improved growth velocity and lung function in this long‑term TD1 survivor, suggesting therapeutic potential even in severe FGFR3 overactivation. Given TD1's rarity, larger studies and further off‑label experience are essential to validate these findings.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-16"},"PeriodicalIF":2.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280106","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}
引用次数: 0
Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns. 探讨产前生长与新生儿性发育差异的关系。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-10-10 DOI: 10.1159/000548803
María Celeste Mattone, Natalia Perez Garrido, Pablo Ramirez, Roxana Marino, María Laura Galluzzo Mutti, Lorena Mabel Hidalgo Coronado, Luciana Zoff, María Sonia Baquedano, Nora Saraco, Esperanza Berensztein, Marta Ciaccio, Mariana Costanzo, Alicia Belgorosky, Gabriela Guercio
{"title":"Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns.","authors":"María Celeste Mattone, Natalia Perez Garrido, Pablo Ramirez, Roxana Marino, María Laura Galluzzo Mutti, Lorena Mabel Hidalgo Coronado, Luciana Zoff, María Sonia Baquedano, Nora Saraco, Esperanza Berensztein, Marta Ciaccio, Mariana Costanzo, Alicia Belgorosky, Gabriela Guercio","doi":"10.1159/000548803","DOIUrl":"https://doi.org/10.1159/000548803","url":null,"abstract":"<p><strong>Introduction: </strong>Associated conditions, especially being born small for gestational age (SGA), have been reported with a higher prevalence in patients with differences in sexual development (DSD) compared to the general population. Our objective was to analyze the prevalence of SGA in a cohort of DSD patients evaluated at a single tertiary pediatric center, and to examine its association with sex chromosome constitution, molecular diagnosis, and clinical phenotype.</p><p><strong>Methods: </strong>Gestational age (GA), birth weight (BW), and birth length (BL) were evaluated to assess prenatal growth and the prevalence of SGA. DSD patients were classified according to karyotype. Among 46,XY DSD patients, perinatal data were further analyzed based on molecular diagnosis and the presence or absence of gonadal dysgenesis.</p><p><strong>Results: </strong>Overall, 642 DSD patients were included: 202 (31.5%) with chromosomal DSD, 218 (33.9%) with 46,XX DSD, and 222 (34.6%)with 46,XY DSD. SGA prevalence was 30.2%, 7%, and 27.5%, respectively. In the 46,XY DSD group, a molecular diagnosis was achieved in 35% of patients. SGA was more frequent in 46,XY DSD subjects without molecular diagnosis and without gonadal dysgenesis.</p><p><strong>Conclusion: </strong>A high prevalence of SGA was observed among individuals with sex chromosome DSD, consistent with the literature, whereas a lower prevalence was found among those with 46,XX DSD, as expected in the Latin American population. The frequency of SGA in the 46,XY DSD group reinforces the association between SGA and DSD in the 46,XY DSD, particularly in patients without a clear molecular diagnosis and without specific disorders of undervirilization. Factors involved in early embryonic growth, development and gonadal differentiation, may mediate the association between being born SGA and DSD in humans. Further studies are needed to clarify the etiological diagnosis.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-15"},"PeriodicalIF":2.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280096","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}
引用次数: 0
Bone Health in Youth with Congenital Adrenal Hyperplasia: Abdominal and Total Adiposity is Associated with Bone Mineral Density. 患有先天性肾上腺增生的青年的骨骼健康:腹部和全身肥胖与骨密度有关。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-30 DOI: 10.1159/000548651
Anna Ryabets-Lienhard, Justin N Nguyen, Trevor A Pickering, Nicole R Fraga, Edwin A Deras, Mitchell E Geffner, Mimi S Kim
{"title":"Bone Health in Youth with Congenital Adrenal Hyperplasia: Abdominal and Total Adiposity is Associated with Bone Mineral Density.","authors":"Anna Ryabets-Lienhard, Justin N Nguyen, Trevor A Pickering, Nicole R Fraga, Edwin A Deras, Mitchell E Geffner, Mimi S Kim","doi":"10.1159/000548651","DOIUrl":"https://doi.org/10.1159/000548651","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require lifelong glucocorticoid treatment, often at supraphysiologic doses, which increases their risk for obesity starting in early childhood and osteoporosis later in life. While obesity and inflammation have been shown to negatively impact bone health in the general population, the relationship between bone mineral density (BMD) and abdominal adiposity in youth with CAH remains unclear. We examine the association between BMD, adiposity, inflammation, and adrenal androgens in youth with CAH.</p><p><strong>Methods: </strong>Thirty-five youth with CAH (12.33±3.20 years; 12 males) and 38 age- and sex-matched controls (12.70±2.83 years; 14 males) underwent dual-energy X-ray absorptiometry (DXA) for BMD, MRI for abdominal adiposity [visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT)], and bone age X-ray. Linear regression models assessed associations between whole body and lumbar areal height-adjusted BMD-z (WB aBMDHAZ, LS aBMDHAZ), adiposity, hormones, and inflammatory markers, adjusting for GC dose and BMI-z.</p><p><strong>Results: </strong>Adiposity measures were significantly higher in CAH patients (SAT, VAT, total % body fat, Ps <0.01). LS aBMDHAZ negatively correlated with SAT (β= -1.21; 95% CI:-2.17, -0.24; P=0.014), VAT (β= -0.38; 95% CI:-0.77, 0.02; P=0.061), and total % body fat (β= -0.63; 95% CI:-1.23, -0.03; P=0.039) in youth with CAH, independent of BMI-z and GC dose. In controls, only VAT (β= -0.39; 95% CI:-0.77, -0.01; P=0.044) was negatively associated with LS aBMDHAZ. Areal BMDHAZ remained within normal limits for both groups, but in CAH patients, LS aBMDHAZ declined with age. No associations were found between BMDHAZ and adrenal hormones or MCP-1.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-17"},"PeriodicalIF":2.7,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191544","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}
引用次数: 0
"Thyroid nodules with indeterminated cytological category in pediatric age: clinical and surgical management and outcome in an Italian multicentre retrospective study". “儿科年龄的甲状腺结节细胞学分类不确定:意大利多中心回顾性研究的临床和手术处理和结果”。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-25 DOI: 10.1159/000548521
Gerdi Tuli, Tommaso Aversa, Maria Cristina Vigone, Marco Abbate, Jessica Munarin, Francesco Quaglino, Giorgia Pepe, Francesca Franchina, Malgorzata Wasniewska, Luisa De Sanctis
{"title":"\"Thyroid nodules with indeterminated cytological category in pediatric age: clinical and surgical management and outcome in an Italian multicentre retrospective study\".","authors":"Gerdi Tuli, Tommaso Aversa, Maria Cristina Vigone, Marco Abbate, Jessica Munarin, Francesco Quaglino, Giorgia Pepe, Francesca Franchina, Malgorzata Wasniewska, Luisa De Sanctis","doi":"10.1159/000548521","DOIUrl":"https://doi.org/10.1159/000548521","url":null,"abstract":"<p><strong>Introduction: </strong>The rate of malignancy (ROM) among pediatric studies using the Bethesda System is 39.5% and 41.5% for atypia of undetermined significance/follicular lesion of undetermined significance and for suspected follicular neoplasm, respectively. Data reported on the basis of Bethesda System system showed lower ROM in adults with indeterminate nodules (30.5% and 28.9% respectively). Studies on adults based on the Italian Society of Anatomic Pathology and Cytology (SIAPEC) classification, report ROM of 4-20.8 % for TIR3a and 28-60.3% for TIR3b category, showing greater sensitivity in detecting malignancy. To date, very few performance data are available about SIAPEC classification in pediatric age.</p><p><strong>Methods: </strong>multicentre retrospective data were collected from 44 pediatric subjects with thyroid nodules.</p><p><strong>Results: </strong>The distribution of cytological categories after fine needle aspiration biopsy (FNAB) was 26 TIR3a and 18 TIR3b. Surgical approach was performed in 8/26 subjects with TIR3a and 18/18 subjects with TIR3b with total ROM of 53.8% (12.5% for TIR3a, 72.8% for TIR3b). Total FNAB accuracy for indeterminate cytologic category was 77%.</p><p><strong>Conclusion: </strong>The reported data seem to confirm a greater sensitivity of SIAPEC classification to identify malignancy within the indeterminate category also in pediatric age and not only in adulthood. This finding may orient clinicians towards clinical follow-up for the indeterminate TIR3a group and towards surgical approach with total thyroidectomy in the indeterminate TIR3b group, although this indication should be confirmed in further national multicenter studies including larger cohorts.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-18"},"PeriodicalIF":2.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149033","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}
引用次数: 0
An ethical framework for addressing the differential impact of systemic racism and inequities on type 1 and type 2 diabetes mellitus in youth in the United States. 解决系统性种族主义和不平等对美国青少年1型和2型糖尿病的不同影响的伦理框架
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-19 DOI: 10.1159/000548527
Camilia Kamoun, Lina Huerta-Saenz, Dorit Koren, Shideh Majidi, Shilpa Mehta, Natalie Nokoff, Elise Schlissel Tremblay, Rebecca M Harris, Rohan Henry, Brynn E Marks, Jennifer K Raymond
{"title":"An ethical framework for addressing the differential impact of systemic racism and inequities on type 1 and type 2 diabetes mellitus in youth in the United States.","authors":"Camilia Kamoun, Lina Huerta-Saenz, Dorit Koren, Shideh Majidi, Shilpa Mehta, Natalie Nokoff, Elise Schlissel Tremblay, Rebecca M Harris, Rohan Henry, Brynn E Marks, Jennifer K Raymond","doi":"10.1159/000548527","DOIUrl":"https://doi.org/10.1159/000548527","url":null,"abstract":"<p><strong>Background: </strong>Inequities in the clinical care and health outcomes of youth and young adults (YYA) with type 1 diabetes mellitus (T1D) and type 2 diabetes mellitus (T2D) are well-established. Systemic and institutional racism and barriers, as well as implicit biases underlie these inequities in the United States.</p><p><strong>Summary: </strong>This article offers a broad overview and analysis of disparities in clinical care and outcomes among youth and young adults (YYA) with type 1 and type 2 diabetes, framed within an ethical context. We argue that achieving ethical care requires centering assessments of patient and family needs within the realities of their lived experiences, as well as structural barriers and challenges. We examine the impact of structural racism and implicit bias on clinical care and explore how factors such as non-English language communication, literacy, numeracy, nutrition, school nursing services, access to diabetes technology and medications, and insurance disparities influence diabetes management and outcomes. The article concludes with a call to action and concrete recommendations to address and reduce these inequities.</p><p><strong>Key messages: </strong>Clinicians can play a pivotal role in reducing diabetes-related health care disparities by adopting an ethical approach that centers upon lived experiences of YYA with diabetes thereby identifying opportunities for more equitable care.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-21"},"PeriodicalIF":2.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091556","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}
引用次数: 0
From Replacement to Tailoring: Evolving Concepts in the Therapy for Short Stature. 从替代到剪裁:矮个子治疗概念的演变。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-18 DOI: 10.1159/000548478
Stefano Cianfarani
{"title":"From Replacement to Tailoring: Evolving Concepts in the Therapy for Short Stature.","authors":"Stefano Cianfarani","doi":"10.1159/000548478","DOIUrl":"https://doi.org/10.1159/000548478","url":null,"abstract":"<p><p>Growth Hormone (GH) therapy is a cornerstone in managing pediatric growth disorders, yet individual responses vary significantly despite standardized protocols. This variability underscores the need for a comprehensive predictive framework to guide clinical decisions and optimize outcomes. Key determinants of growth response include the underlying diagnosis and degree of GH sensitivity, with conditions like severe GH deficiency typically responding better than disorders such as idiopathic short stature (ISS), small for gestational age (SGA), or Turner syndrome. Patient-specific factors-including age at treatment initiation, bone age delay, mid-parental height and auxological parameters-further shape therapeutic outcomes. Definitions of poor response remain debated, typically relying on first-year height gain or height velocity metrics. A suboptimal response should prompt reassessment of the diagnosis and therapeutic strategy. Emerging therapies offer promising alternatives and adjuncts aimed at improving adherence, targeting specific etiologies, and enhancing outcomes. Despite early success, these interventions require further validation regarding long-term efficacy, safety, and cost-effectiveness. Together, these innovations reflect a broader shift toward mechanism-driven, personalized therapy in pediatric endocrinology.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-21"},"PeriodicalIF":2.7,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086197","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}
引用次数: 0
Head-to-head comparison of two automated insulin delivery systems in children with type 1 diabetes during a two-week summer camp: an exploratory prospective study. 在为期两周的夏令营期间,两种自动胰岛素输送系统对1型糖尿病儿童的正面比较:一项探索性前瞻性研究。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-11 DOI: 10.1159/000548290
Katharina Bünzel, Sabrina Sanfilippo, Othmar Moser, Julia K Mader, Michaela Hofmann, Birgit Rami-Merhar, Martin Tauschmann
{"title":"Head-to-head comparison of two automated insulin delivery systems in children with type 1 diabetes during a two-week summer camp: an exploratory prospective study.","authors":"Katharina Bünzel, Sabrina Sanfilippo, Othmar Moser, Julia K Mader, Michaela Hofmann, Birgit Rami-Merhar, Martin Tauschmann","doi":"10.1159/000548290","DOIUrl":"https://doi.org/10.1159/000548290","url":null,"abstract":"<p><p>INTRODUCTION Automated insulin delivery (AID) systems offer superior glycaemic control compared to non-AID in children with type 1 diabetes, yet their performance during real-life challenges, such as summer camps with physical activity, remains underexplored. This study evaluated AID efficacy based on time range (70-180 mg/dL), comparing AID systems against sensor-augmented pump therapy (SAP) during a summer camp in children with type 1 diabetes. METHODS Data were collected from a 14-day diabetes camp (July 2024) involving 26 children (mean+SD age 10±1.3 years, using Medtronic MiniMed 780G (n=13), CamAPS FX (n=7) or SAP (n=6). CGM-derived metrics for the two AID systems and SAP were compared by means of t-tests or Mann-Whitney U-tests (p ≤ 0.05). RESULTS Both AID systems showed a similar time in range over the camp (primary endpoint, 75.5±7.5% for MiniMed 780G vs. 71.1±11.16% for CamAPS FX; p=0.30). No significant differences were found for other glycemic metrics or insulin dosage. Overnight, MiniMed 780G had less time below 54 mg/dL (0.0% (IQR: 0.0; 0.0%)) than CamAPS FX (0.4% (IQR: 0.0; 0.7%); p=0.024). SAP had significantly lower time in range than both AID systems (75.0% (IQR: 70.0; 81.0%) vs. 56.0% (IQR: 55.0; 66.0%); p=0.006). A positive correlation was found between coefficient of variation and the total number of steps (r=0.39; p=0.0459). CONCLUSIONS Despite the camp's challenges, both AID systems were safe and effective, meeting recommended CGM-derived treatment targets. Furthermore, AID systems showed superior glycaemic control compared to SAP.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-17"},"PeriodicalIF":2.7,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039960","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}
引用次数: 0
Neonatal diabetes: 20-year experience from a tertiary care pediatric diabetes clinic in north India. 新生儿糖尿病:20年的经验,从三级保健儿科糖尿病诊所在印度北部。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-09 DOI: 10.1159/000548390
Rakesh Kumar, Devi Dayal, Arun George, Sayan Banerjee, Jaivinder Yadav, Molly Govier, Viswanathan Mohan, Venkatesan Radha
{"title":"Neonatal diabetes: 20-year experience from a tertiary care pediatric diabetes clinic in north India.","authors":"Rakesh Kumar, Devi Dayal, Arun George, Sayan Banerjee, Jaivinder Yadav, Molly Govier, Viswanathan Mohan, Venkatesan Radha","doi":"10.1159/000548390","DOIUrl":"https://doi.org/10.1159/000548390","url":null,"abstract":"<p><strong>Background: </strong>Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, typically diagnosed within the first six months of life. While NDM is well-recognized globally, data from India regarding its clinical characteristics, treatment strategies, and long-term outcomes are scarce.</p><p><strong>Objectives: </strong>To describe the molecular characterization, clinical phenotype and follow-up of children with NDM.</p><p><strong>Methods: </strong>Data from children diagnosed with NDM between January 2005 and December 2024 were retrospectively analyzed. Genetic testing was performed using standard protocols.</p><p><strong>Results: </strong>Thirty-two patients (10 females) with NDM, median age at diagnosis 13.2 (range:1.6-36.5) weeks, were identified. Twenty-four patients had diabetic ketoacidosis at diagnosis. Pathogenic genetic variants were confirmed in 25 children, including KCNJ11 (11/25), the INS gene (4/25), and EIF2AK3 (3/25). An empirical sulfonylurea trial was initiated in 22 infants with good response in 13 (12 with variants in the KCNJ11 or ABCC8 genes). HbA1c levels amongst this cohort were significantly better than other genetic variants [41(38,45) versus 75(52, 81) mmol/mol]. At median follow-up of 6.6 years, the mean HbA1c was 56.33±18.55 mmol/mol with two deaths (both EIF2AK3 gene-related).</p><p><strong>Conclusions: </strong>This study highlights the genetic heterogeneity of NDM in the north Indian population and emphasizes the significance of early genetic testing for personalized management. Empirical sulfonylurea trials proved successful in specific cases, considering that genetic testing is delayed in resource-limited settings.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-14"},"PeriodicalIF":2.7,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029417","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}
引用次数: 0
A Case of Heterozygous INS Gene Missense Variant in Neonatal Diabetes with Beta-Cell Autoantibodies: Experience in Limited Resources Setting. 新生儿糖尿病伴β细胞自身抗体的INS基因杂合错义变异1例:资源有限的情况下的经验。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-09 DOI: 10.1159/000548319
Yuni Hisbiyah, Muhammad Faizi, Rayi Kurnia Perwitasari, Nur Rochmah, Evhy Apryani, Calcarina Nira Pramesthi, Aditya Primadana, Abdulsalam Issa Abu-Libdeh, Aman B Pulungan
{"title":"A Case of Heterozygous INS Gene Missense Variant in Neonatal Diabetes with Beta-Cell Autoantibodies: Experience in Limited Resources Setting.","authors":"Yuni Hisbiyah, Muhammad Faizi, Rayi Kurnia Perwitasari, Nur Rochmah, Evhy Apryani, Calcarina Nira Pramesthi, Aditya Primadana, Abdulsalam Issa Abu-Libdeh, Aman B Pulungan","doi":"10.1159/000548319","DOIUrl":"10.1159/000548319","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic analysis is essential for diagnosing, treating, and predicting complications in neonatal diabetes mellitus (NDM) but is unavailable in some regions. Sulfonylureas are effective for NDM caused by KCNJ11 or ABCC8 mutations, which are among the most common genetic causes; therefore, they are often given before genetic testing. Unfortunately, in certain ethnicities, this mutation rarely occurs. This report presents a case of NDM with a heterozygous INS gene missense mutation and positive pancreatic autoantibodies in a single individual.</p><p><strong>Case presentation: </strong>A three-month-old boy, born to non-consanguineous parents, presented with diabetic ketoacidosis and bronchopneumonia. Initial management included intravenous insulin and antibiotics, followed by sulfonylurea and detemir insulin. The patient demonstrated a good response at 5 months of age, but by 11 months, glucose control deteriorated with increased HbA1c, positive pancreatic autoantibodies, and declining C-peptide levels over 10 months, necessitating a transition from sulfonylurea to basal - bolus insulin regimen. Genetic testing at age 4 years identified a heterozygous missense mutation in the INS gene (c.325T>C, p.Cys109Arg), confirming a diagnosis of permanent NDM.</p><p><strong>Conclusion: </strong>In settings where genetic testing is limited, cautious sulfonylurea use based on clinical algorithms is recommended. Regular monitoring of sulfonylurea response, pancreatic autoantibodies, and β-cell function is essential to guide therapy adjustments.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.7,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029438","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}
引用次数: 0
In Memoriam: Jan Victor Leo Van den Brande, 1933-2025. 纪念:Jan Victor Leo Van den Brande, 1933-2025。
IF 2.7 3区 医学
Hormone Research in Paediatrics Pub Date : 2025-09-02 DOI: 10.1159/000548270
Jan M Wit
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