Neonatal diabetes in Ireland over the past 19 years: Clinical presentation, management, genetics, and outcomes [0.03%]
北爱尔兰过去19年间的新生儿糖尿病的临床特点、治疗、遗传学及转归分析
Yuxin Woon,Casey Card,Lorna Holcroft et al.
Yuxin Woon et al.
Background: Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes presenting before 6 months of age. It may be permanent (PNDM) or transient (TNDM). Individuals with KATP channel variants may respond to or...
Long-acting PEGylated Growth Hormone in Children with Idiopathic Short Stature: 2-Year Results [0.03%]
重组人生长激素PEG类似物治疗儿童特发性矮身材的疗效和安全性多中心研究——为期两年的研究结果
Ling Hou,Yu Yang,Sha Zhao et al.
Ling Hou et al.
Background: Idiopathic short stature (ISS) is characterized by short stature without identifiable underlying disorders. Long-acting PEGylated recombinant human growth hormone (PEG-rhGH) has emerged as a promising treatmen...
The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals [0.03%]
CrescNet注册中心软骨发育不全模块：未接受治疗和接受Vosoritide治疗的个体的真实世界人口统计学数据和临床结果
Klaus Mohnike,Christoph Beger,Ruth Gausche et al.
Klaus Mohnike et al.
Introduction: Achondroplasia is a rare skeletal dysplasia characterized by severe disproportionate short stature. Vosoritide is currently the only approved therapy. The CrescNet registry is a network of primary and specia...
Use of the Loop Open-Source Automated Insulin Delivery System in Children with Type 1 Diabetes: Six-Month Results from a Single Center [0.03%]
用于1型糖尿病儿童的Loop开环开源人工胰腺系统单中心6个月研究结果分析
Ayça Uğur Kaval,Neslihan Öztürk,Elif Eviz et al.
Ayça Uğur Kaval et al.
Introduction: As an alternative to commercial automated insulin delivery (AID) systems open-source AID (OS-AID) technologies such as Loop had growing interest among people with type 1 diabetes (T1D). This study aims to ev...
Prevalence and changes in genetic and clinical characteristics in growth hormone-treated Belgian girls with Turner syndrome: a study from the BELGROW registry [0.03%]
比利时BELGROW登记库中接受生长激素治疗的唐氏综合症女孩患病率和遗传学及临床特征的变化：一项基于登记库的研究
Laure Boutsen,Muriel Thomas,Jean De Schepper et al.
Laure Boutsen et al.
Objective: Since the first description of Turner Syndrome (TS), both genotypic spectrum and phenotypic presentation have evolved. This study aims to examine trends in this evolution over the past three decades and provide...
Efficacy of Recombinant Human Growth Hormone on Glucocorticoid-Induced Short Stature in Children: A Retrospective Controlled Study [0.03%]
Yanjun Yang,Lanlan Ge,Fujuan Liu et al.
Yanjun Yang et al.
Background: Long-term glucocorticoid (GC) therapy is a leading cause of growth retardation in children with chronic renal and rheumatic diseases. While recombinant human growth hormone (rhGH) is used to counteract these e...
Trajectory of glycemic control from late adolescence to young adulthood with type 1 diabetes: A longitudinal study [0.03%]
1型糖尿病青年患者的血糖控制轨迹：一项纵向研究
Min Jee Kim,Yun Jeong Lee,Da Hye Lee et al.
Min Jee Kim et al.
Introduction: Improving outcomes for transition-aged patients with type 1 diabetes (T1D) requires understanding glycemic trajectories and modifiable factors. We evaluated longitudinal glycated hemoglobin (HbA1c) trends, t...
A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report [0.03%]
三个患有生殖器低雄性化和附加临床特征兄弟的MED12杂合变异的一个病例报告
Nobuhiko Koga,Yuko Katoh-Fukui,Michihiko Aramaki et al.
Nobuhiko Koga et al.
Introduction: MED12 is a causative gene for congenital malformation syndromes. The association between MED12 variants 46,XY disorders/differences of sex development (DSD) remains unclear, although several variant-positive...
Case Reports
Hormone research in paediatrics. 2026 Jan 22:1-14. DOI:10.1159/000550257 2026
Stefano Cianfarani,Sommayya Aftab,Kanetee Busiah et al.
Stefano Cianfarani et al.
Pediatric endocrinology has made remarkable advances over recent decades, transforming the lives of countless children and families. Yet, major challenges persist. Many rare and complex endocrine disorders remain difficult to diagnose, moni...
Practice Guideline
Hormone research in paediatrics. 2026 Jan 19:1-11. DOI:10.1159/000550518 2026
Emotional Challenges Experienced Along the Diabetes Technology Journey by Caregivers of Black and Hispanic/Latino Youth with Type 1 Diabetes [0.03%]
黑人和西班牙裔/拉丁裔1型糖尿病青年照护者的糖尿病技术之旅中的情感挑战
Alexa J Durante,Margaret G Maynard,Shoshana S Liu et al.
Alexa J Durante et al.
Introduction: Caring for youth with type 1 diabetes (T1D) can be challenging for caregivers. Diabetes technology can improve glycemic outcomes and reduce the burden for youth with T1D. Little is known about the emotional ...